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Mário Manuel da Silva Leite Sousa graduated in Medicine at Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto (ICBAS-UP)/Hospital Geral de Santo António (1985). I had the highest high-school and medical school classification, having received a university scholarship from Calouste Gulbenkian Foundation and medical prizes from the Hospital and Engenheiro António Almeida Foundation. I got a PhD in Reproductive Biology and Biochemistry (ICBAS-1992), did the military service (1991-1992), and went to France to perform a medical subspecialization in laboratorial reproductive medicine (American Hospital of Paris, 1993-1995), and a post-doctorate in Reproductive Biology and Physiology (INSERM U355, Clamart). I received an INSERM scholarship. I was appointed head of research at Depart. of Genetics (Dir. Prof. Alberto Barros), Faculty of Medicine of Porto (FMUP), placing it as a genetic diagnostics reference centre (1996-2008); head of research at the private Centre of Reproductive Genetics Prof. Alberto Barros (CGR), placing it as a national and international reference IVF centre (1996-2008); and head of research at the private IVF Bernabeu Institute, Alicante, Spain (1997-2001). My academic career at ICBAS started as a medical student (monitor, 1983) being currently full professor (2005), Ruler (of Cell Biology, to the integrated master's degree in medicine and veterinary medicine, and of Reproductive Medicine to the integrated master's degree in medicine (1995-), Director of Lab. of Cell Biology (1998-), and Scientific Council member (1991-2009; 2023-). I am founding member of UMIB-Multidisciplinary Biomedical Research Unit and at UMIB head of research of the group Biology and genetics of reproduction/Molecular and cellular medicine) (1994-). My scientific field is translational medicine in the areas of reproductive medicine, oncofertility, and ciliopathies. I have participated in 31 research projects (13 as PI). I authored/co-authored a total of 584 publications (496 International + 88 National), with 10992 citations, an h index of 50, and an i10 index of 191, and a total of 860 communications (299 International and 561 National). I participated in the discovery of new pathologic variants in infertile patients and in patients with Primary ciliary dyskinesia (12, in gene databases). I supervised/co-supervised 8 post-doctorate, 32 PhD and 46 MSc students, besides multiple of pregraduate students. I participated in 107 Scientific Juries, being author/co-author in 66 Prizes and Nominations and member of one international patent (WIPO PCT/IB2018/055715). I was co-responsible for discovering the mechanism of ICSI (first babies in France), which allowed the application of the technique throughout the world, responsible for discovering the mechanism of human oocyte activation, co-responsible for creating the ROSI technique (first babies in the world: microinjection of immature germ cells), responsible for the first in-vitro maturation of immature human germ cells into spermatozoa, responsible for the creation of the national preimplantation genetic testing centre (first application to familial amyloidotic polyneuropathy in Portugal and Spain), and responsible for the creation of the integrated diagnostics unit for ciliopathies, carrying out external diagnosis for hospitals in the northern region of Portugal. Besides other clinical discoveries, multiple media interviews, interventions near schools, patients and clinicians, I contributed politically to the implementation of the actual assisted reproductive system in Portugal, the cord blood bank, the gamete bank, and the programme for fertility preservation.
Identification

Personal identification

Full name
Mário Manuel da Silva Leite Sousa

Citation names

  • Sousa, Mário

Author identifiers

Ciência ID
5118-4AC0-9709
ORCID iD
0000-0002-3009-3290
Researcher Id
A-7340-2019
Scopus Author Id
7103201377

Knowledge fields

  • Medical and Health Sciences - Health Sciences
  • Natural sciences - Biological Sciences - Reproductive Biology
  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions
  • Medical and Health Sciences - Clinical Medicine - Respiratory Systems
  • Natural sciences - Biological Sciences - Cell Biology

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Intermediate (B1) Intermediate (B1) Beginner (A1) Intermediate (B1) Beginner (A1)
Spanish; Castilian Upper intermediate (B2) Upper intermediate (B2) Beginner (A1) Intermediate (B1) Upper intermediate (B2)
Education
Degree Classification
1993 - 1995
Concluded
Reproductive Biology and Physiology (Pós-doutoramento)
INSERM, France
1993 - 1995
Concluded
subspecialization in laboratorial reproductive medicine (Especialização pós-licenciatura)
Hôpital Américain de Paris, France
1992
Concluded
Ciências Biomédicas (Doutoramento)
Major in Outra:Biologia Celular
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"A Fertilização em Marthaesterias Glacialis" (THESIS/DISSERTATION)
1979 - 1985
Concluded
Medicina (Mestrado integrado)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Affiliation

Science

Category
Host institution
Employer
1997 - Current Principal Investigator (Research) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Teaching in Higher Education

Category
Host institution
Employer
2005/01/01 - Current Full Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 2005 Associate Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1990 - 1997 Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Positions / Appointments

Category
Host institution
Employer
2023 - Current Member of the Scientific Council Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - Current Pedagogic coordinator of Biology of the Cell unit of the course of Medicine and Veterinary Medicine Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - Current Pedagogic coordinator of Reproductive Medicine unit from course of Medicine Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014 - Current Organic Unit Director Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2008 - Current Responsable of transmission electron microscopy diagnostic of ciliary and platelet diseases Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1997 - Current Director of Research: Biology and Genetics of Reproduction (BGR), Multidisciplinary Biomedical Research Unit (UMIB) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Projects

Grant

Designation Funders
2016 - Current Obesitility – Gut hormones and testicular metabolism: mechanisms associated with obesity¬-related male infertility
Ref: PTDC/BIM¬MET/4712/2014
Ministério da Ciência Tecnologia e Ensino Superior
2015 - Current Aquaporins as molecular partners of CFTR in the Blood-Testis Barrier: a crossroad between human male infertility and cystic fibrosis?”
Ref: PTDC/BBB-BQB/1368/2014
Ministério da Ciência Tecnologia e Ensino Superior
2012/04 - 2015/03 Can Hormonal (De)regulation of Ion Transporters in Human Sertoli Cells be Responsible for Infertility?
PTDC/QUI-BIQ/121446/2010
Universidade da Beira Interior, Portugal

Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
Fundação para a Ciência e a Tecnologia, I.P.

Fundação para a Ciência e a Tecnologia
Concluded
2007/01 - 2008/09 Gene expression profiles in stage specific male germ cells using the microarray technology Fundação para a Ciência e a Tecnologia, I.P.
2007/01 - 2008/09 Genomic Imprinting in human spermatogenesis Fundação para a Ciência e a Tecnologia, I.P.
2005/10 - 2007/12 Gene expression profiles in stage specific male germ cells using the microarray technology Fundação para a Ciência e a Tecnologia, I.P.
2005/10 - 2007/12 Genomic Imprinting in human spermatogenesis Fundação para a Ciência e a Tecnologia, I.P.
2005 - 2007 Ultrastructural and cytochemical characterization of the follicular cells from cumulus oocyte complexes
FCTPOCTI/ CVT/60217/2004
Fundação para a Ciência e a Tecnologia, I.P.
2005 - 2007 Mechanisms of cell cycle control during human in vitro female meiosi
FCTPOCTI/ SAUMMO/ 59997/2004
Fundação para a Ciência e a Tecnologia, I.P.
2003 - 2005 Caracterização Electrofisiológica dos Canais Iónicos nas Células do Epitélio Seminífero
POCTI/BME/48376/02
Fundação para a Ciência e a Tecnologia, I.P.
2002 - 2005 Espermatogénese InVitro. Caracterização de Receptores de Superfície e da Expressão Genética Durante as Fases de Proliferação, Meiose e Diferenciação
POCTI/BME/43462/2001
Fundação para a Ciência e a Tecnologia, I.P.
2001 - 2004 Canais Iónicos Durante a Maturação e a Fertilização In Vitro de Ovócitos Bovinos
FCTSapiens, 35231/99
Fundação para a Ciência e a Tecnologia, I.P.
2001 - 2004 Análise de Haplotipos em Yq11.2 em Relação com Determinados Estadios da Espermatogénese
POCTI/ MGI/36363/2000
Fundação para a Ciência e a Tecnologia, I.P.
1997 - 1999 Acções da Proteína Quinase C nas Vias de Sinalização Celular Durante a Activação do Ovócito em Mamíferos
FCTPraxis XXI, PCNA/C/BIA/0100/96
Foundation for Science and Tecnology

Contract

Designation Funders
2023/01/01 - Current The effects of cryopreservation on the epigenome of human sperm.
Researcher
Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
2018/07/26 - 2021/01/21 Tracking TRAnsgenerational epigenetic Inheritance of metabolic diseases Transmitted via overweight or obese fathers
PTDC/MEC-AND/28691/2017
Universidade do Porto, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2016/04/01 - 2019/09/30 Obesitility – Gut hormones and testicular metabolism: mechanisms associated with obesity-related male infertility
PTDC/BIM-MET/4712/2014
Universidade da Beira Interior, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016/06/15 - 2018/12/14 Aquaporins as molecular partners of CFTR in the the Blood-Testis Barrier: a crossroad between human male infertility and cystic fibrosis?
PTDC/BBB-BQB/1368/2014
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010/05/01 - 2013/04/30 Search for genomic structural variants in azoospermia: a study in the Portuguese population
PTDC/SAU-GMG/101229/2008
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia

Fundação para a Ciência e a Tecnologia, I.P.
Concluded
2005/10/01 - 2007/12/31 Gene expression profiles in stage specific male germ cells using the microarray technology
POCI/SAU-MMO/60709/2004
Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2005/10/01 - 2007/12/31 Genomic Imprinting in human spermatogenesis
POCI/SAU-MMO/60555/2004
Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Book
  1. Crisóstomo, L.; Alves, M.G.; Gorga, A.; Sousa, M.; Riera, M.F.; Galardo, M.N.; Meroni, S.B.; Oliveira, P.F.. Molecular mechanisms and signaling pathways involved in the nutritional support of spermatogenesis by sertoli cells. 2018.
    10.1007/978-1-4939-7698-0_11
  2. Oliveira, J.; Pereira, R.; Santos, R.; Sousa, M.. Evaluating runs of homozygosity in exome sequencing data - Utility in disease inheritance model selection and variant filtering. 2018.
    10.1007/978-3-319-94806-5_15
  3. Sá, R.; Sousa, M.. Androgens and the ovary. 2014.
  4. Lima, P.; Monteiro, S.M.; Sousa, M.; Machado, J.. A histological study of oogenesis in the freshwater mussel Anodonta cygnea (Linnaeus, 1758) in Mira lagoon, Portugal. 2012.
    10.4002/040.055.0206
  5. Marques, C.J.; Sousa, M.. Imprinted gene anomalies in sperm. 2010.
    10.1017/9781139169349.005
  6. Barros, A.; Sousa, M.. Spermatid injection: Current status. 2008.
    10.1017/CBO9780511547287.056
  7. Fardilha, M.; Vieira, S.I.; Barros, A.; Sousa, M.; Da Cruz E Silva, O.A.B.; Da Cruz E Silva, E.F.. Differential distribution of Alzheimer's amyloid precursor protein family variants in human sperm. 2007.
    10.1196/annals.1397.086
Book chapter
  1. Luís Rato; Pedro F. Oliveira; Mário Sousa; Branca M. Silva; Marco G. Alves. "Role of Reactive Oxygen Species in Diabetes-Induced Male Reproductive Dysfunction". 135-147. Elsevier, 2019.
    10.1016/b978-0-12-812501-4.00014-6
  2. Oliveira, P.F.; Sousa, M.; Monteiro, M.P.; Silva, B.; Alves, M.G.. "Pineal gland and melatonin biosynthesis". 465-471. 2018.
  3. Oliveira, P.F.; Sousa, M.; Monteiro, M.P.; Silva, B.; Alves, M.G.. "Pineal gland and regulatory function". 472-477. 2018.
  4. Rato, L.; Oliveira, P.F.; Sousa, M.; Silva, B.M.; Alves, M.G.. "Role of reactive oxygen species in diabetes-induced male reproductive dysfunction". 135-147. 2018.
  5. Sousa, Mário. "Basic aspects of spermatogenesis". India, 2017.
    DOI: 10.2174/97816810850051170101
  6. Meneses, MJ; Bernardino, RL; Sousa, Mário; Silva, BM; Sá, Rosália; Oliveira, Pedro F.; Alves, Marco G.. "Regulation of Testicular Glucose Metabolism in (Pre)Diabetes and its Implications to Male Reproductive Health". In Glucose Metabolism: Biochemistry, Regulation and Health Effects.. 2015.
  7. Sá, Rosália; Barros, Alberto; Sousa, Mário. "Reação acrossómica e fertilização". In Reprodução Humana Masculina: Princípios Fundamentais, edited by Fardilha, M; Vieira da Silva, J; Conde, M, 123-130. ARC Publishing, 2015.
    Published
  8. Sousa, Mário; Sá, Rosália; Alves, Cláudia; Barros, Alberto. "Gametogénese, Fecundação e Desenvolvimento Embrionário Pré-Implantação.". In Sexologia Médica, edited by Nuno Monteiro Pereira, 13-29. Portugal: Lidel ¿ edições técnicas, lda, 2014.
    Published
  9. Sá, Rosália; Barros, Alberto; Sousa, Mário. "Clonagem Reprodutiva". In Sexologia Médica, edited by Nuno Monteiro Pereira, 31-43. Porto, Portugal: Lidel - edições técnicas, lda., 2014.
    Published
  10. Sá, Rosália; Cremades, Nieves; Alves, Cláudia; Barros, Alberto; Sousa, Mário. "Haploidização". In Sexologia Médica, edited by Nuno Monteiro Pereira, 45-55. Portugal: Lidel - edições técnicas, lda., 2014.
    Published
  11. Sá, Rosália; Barros, Alberto; Sousa, Mário. "Células Estaminais". In Sexologia Médica, edited by Nuno Monteiro Pereira, 57-76. Portugal: Lidel - edições técnicas, lda., 2014.
    Published
  12. Sá, R.; Sousa, M.; Cremades, N.; Alves, C.; Silva, J.; Barros, A.. "In vitro maturation of spermatozoa". 425-452. 2007.
  13. Sá, Rosália; Sousa, Mário; Barros, Alberto. "Manual of the infertile couple.". In Biology in the Night, edited by Soares, Amadeu, 108-149. Edições Afrontamento, 2007.
    Published
  14. Sá, Rosália; Sousa, Mário; Cremades, Nieves; Alves, Cláudia; Silva, Joaquina; Barros, Alberto. "Developmental Biology, Reprodutive Cloning, Haploidization and Stem Cells.". In Sexual Medicine. Portuguese Society of Andrology, Lusophone University, 2006.
    Published
  15. Sá, Rosália; Sousa, Mário; Cremades, Nieves; Neves, Rui; Alves, Cláudia; Fernandes, Susana; Silva, Joaquina; Barros, Alberto. "In vitro maturation of sperm". In In Vitro Fertilization and Assisted Reproduction, edited by Gurgan, T; Demirol, A, 79-82. Bolonha, Italy: Medimond Publishing Group, 2005.
    Published
  16. Fernandes, Susana; Sousa, Mário; Barros, Alberto. "Os genes e o homem infértil.". In Tratado de Andrologia Clínica, 195-222. Portugal: Sociedade Portuguesa de Andrologia, 2000.
    Published
  17. M. Sousa; C. Azevedo. "Ultrastructure and AG Staining of Echinoderm Spermatogenesis". 115-129. Springer Berlin Heidelberg, 1990.
    10.1007/978-3-642-83965-8_9
Conference abstract
  1. Carrageta, David F; Oliveira, Pedro F.; Barros, Alberto; Sousa, Mário; Monteiro, Mariana P.; Alves, Marco G.. "Hyperglycemia induces capacitation and ROS overproduction on human sperm". Paper presented in European and International Congress on Obesity 2020, 2020.
    Published
  2. Carrageta, David F; Oliveira, Pedro F.; Barros, Alberto; Sousa, Mário; Monteiro, Mariana P.; Alves, Marco G.. "Hiperglicemia promove a capacitação e hiperativação mitocondrial em espermatozoides humanos.". Paper presented in 16º Congresso Português de Diabetes, 2020.
  3. Pereira, Sara C.; Martins, Ana D; Moreira, Bruno P.; Bernardino, Raquel L.; Barros, Alberto; Sousa, Mário; Oliveira, Pedro F.; Alves, Marco G.. "Assessment of the expression of obesity-related genes in human sertoli cells and spermatozoa". Paper presented in SEHIT 2019, 2019.
    Published • 10.14670/HH-sehit19
  4. Pereira, Sara C.; Martins, Ana D; Moreira, Bruno P.; Bernardino, Raquel L.; Barros, Alberto; Sousa, Mário; Paiva, Sandra; Oliveira, Pedro F.; Alves, Marco G.. "Ghrelin and Leptin stimuli alter the expression of Obesity-related genes in Sertoli Cells". Paper presented in 12th Meeting of Young Researchers of University of Porto, Porto, 2019.
    Published
  5. Almeida, SP; Jarak, I.; Carvalho, R. A.; Barros, A.; Sousa, Mário; Alves, Marco G.; Oliveira, PF. "The impact of ageing on the metabolic profile of rat testicular tissue: from the onset to the senescence". Paper presented in FEBS Open Bio, 2018.
    10.1002/2211-5463.12453
  6. Monteiro, JP; Jesus, TT; Crisóstomo, L.; Sousa, Mário; Barros, A.; Oliveira, Pedro F.; Alves, Marco G.. "mTOR coordinates the response to available energy substrates in human Sertoli cells: A defining point for male fertility?". Paper presented in The FEBS Journal, 2017.
    10.1111/febs.14171
  7. Bernardino, Raquel L.; Dias, Tânia R.; Oliveira, Elsa; Barros, Alberto; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro F.. "Morphological and metabolic alterations in human Sertoli cells induced by inhibition of carbonic anhydrase. DOI:10.1111/febs.14174". 2017.
    DOI:10.1111/febs.14174
  8. Meneses, M.J.; Bernardino, Raquel L.; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "The antidiabetic drugs Pioglitazone and Metformin alter the metabolic cooperation in the testis". Paper presented in IV Encontro Nacional de Pós-Graduação em Ciências Biológicas, Aveiro, 2016.
    Published
  9. Bernardino, Raquel L.; Alves, Marco G.; Silva, Joaquina; Barros, Alberto; Ferraz, Luís; Sousa, Mário; Sá, Rosália; Oliveira, Pedro F.. "Men with Klinefelter syndrome present altered testicular expression of estrogen receptors. DOI: 10.1111/eci.12603". 2016.
    Published • DOI: 10.1111/eci.12603
  10. Rabaça, Ana; Gonçalves, A.; Ferreira, C.; Bernardino, Raquel L.; Barros, Alberto; Alves, Marco G.; Sousa, Mário; Oliveira, Pedro F.; Sá, Rosália. "Protective effects of n-acetylcysteine on human sperm DNA during short-term etoposide exposure. DOI:10.1097/MD.0000000000002371". 2016.
    DOI:10.1097/MD.0000000000002371
  11. Ferreira, C.; Gonçalves, A.; Rabaça, Ana; Bernardino, Raquel L.; Barros, Alberto; Oliveira, Pedro F.; Sousa, Mário; Alves, Marco G.; Sá, Rosália. "Metformin preserves human sperm DNA integrity during short-term incubation. DOI:10.1097/MD.0000000000002371". 2016.
    DOI:10.1097/MD.0000000000002371
  12. Meneses, Maria J; Bernardino, Raquel L.; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "The antidiabetic drug pioglitazone alters human Sertoli cells metabolism by increasing its glycolytic efficiency. DOI: 10.1097/MD.0000000000002371". 2016.
    DOI: 10.1097/MD.0000000000002371
  13. Dias, Tania Rodrigues; Alves, Marco Gouveia; Bernardino, Raquel L.; Martins, Ana D; Moreira, Ana Carolina; Silva, Joaquina; Barros, Alberto; et al. "Caffeine-induced alterations in human Sertoli cells metabolism and oxidative profile. DOI: 10.1111/febs.13339.". Paper presented in FEBS, 2015.
    Published
  14. Cunha, M; Dória, Sofia; Lima, Vera; Pinho, MJ; Almeida, C; Oliveira, C; Gonçalves, A; Sousa, Mário; Barros, Alberto. "Prevalence,charaterization and distribution of sex chromosome abnormalities in 9,448 Portuguese infertile patients". Paper presented in ESHRE, 2007.
    Published
Conference paper
  1. Pereira, Sara C; Martins, Ana; Moreira, Bruno P; Bernardino, Raquel L.; Barros, Alberto; Sousa, Mário; Paiva, Sandra; Oliveira, Pedro F.; Alves, Marco G.. "Ghrelin and Leptin stimuli alter the expression of Obesity-related genes in Human Sertoli Cells". Paper presented in 12th Meeting of Young Researchers of University of Porto, 2019.
    Published
  2. Oliveira, J.; Pereira, R.; Santos, R.; Sousa, M.. "Homozygosity mapping using whole-exome sequencing: A valuable approach for pathogenic variant identification in genetic diseases". 2017.
    10.5220/0006248502100216
  3. Moreira, Bruno M; Martins, Ana D; Monteiro, Mariana P; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro F. "Leptin modulates Sertoli cells mitochondrial function and biogenesis with implications for the nutritional support of spermatogenesis". Paper presented in 19th European Congress of Endocrinology, 2017.
    Published
  4. Martins, Ana D; Monteiro, Mariana P; Sousa, Mário; Barros, Alberto; Silva, Joaquina; Carvalho, Rui A; Silva, Branca M; Oliveira, Pedro F; Alves, Marco G.. "Glucagon-like peptide-1 stimulates lactate production by human Sertoli cells with possible implication to male reproductive potential". Paper presented in 50th Annual Scientific Meeting of the European Society for Clinical Investigation, 2016.
  5. Dias, Tânia R; Alves, Marco G.; Bernardino, Raquel L.; Martins, Ana D; Moreira, Ana C; Silva, Joaquina; Barros, Alberto; et al. "Caffeine and male fertility: Metabolic effects and oxidative profile in human Sertoli cells". Paper presented in IV Encontro Nacional de Pós-graduação em Ciências Biológicas, 2014.
    Published
  6. Oliveira, Jorge; Negrão, Luís; Fineza, Isabel; Gonçalves, Ana Rita; Froufe, Hugo; Egas, Conceição; Sousa, Mário; Santos, Rosário. "Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da sequenciação completa do exoma". 2014.
  7. Bernardino, Raquel L.; Martins, Ana D; Jesus, Tito T; Sá, Rosália; Sousa, Mário; Socorro, Sílvia; Alves, Marco G.; Oliveira, Pedro F. "Regulation by estrogens of bicarbonate secretion mechanisms in Sertoli cell". Paper presented in 37th Congress of IUPS, 2013.
    Published
  8. Seabra, Catarina; Quental, Sofia; Neto, Ana; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Sousa, Mário; et al. "An Alu-mediated 1Mb deletion removes Wilms¿ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidism". 2013.
  9. Marau, R.; Almeida, L.; Sousa, M.; Pedreiras, P.. "A middleware to support dynamic reconfiguration of real-time networks". 2010.
    10.1109/ETFA.2010.5641306
Conference poster
  1. Lobo de Almeida, Ana; Gonçalves, Ana; Barros, Alberto; Sousa, Mário; Sá, Rosália. "Analysis of human sperm acrosome reaction observing the secrets of quick techniques". Paper presented in UMIB Summit 2023, 2023.
  2. Lobo de Almeida, Ana; Gonçalves, Ana; Barros, Alberto; Sousa, Mário; Sá, Rosália. "Oncofertilidade: O impacto da bleomicina na capacidade reprodutiva de jovens adultos". Paper presented in 5º Encontro Nacional de Jovens Investigadores em Oncologia, 2023.
  3. Lobo de Almeida, Ana; Gonçalves, Ana; Barros, Alberto; Sousa, Mário; Sá, Rosália. "Bleomicina uma sirga contra o DNA dos espermatozoides humanos". Paper presented in XXXVIII Jornadas de Estudos da Reprodução, Sociedade Portuguesa de Medicina da Reprodução, 2023.
  4. Lobo de Almeida, Ana; Gonçalves, Ana; Barros, Alberto; Sousa, Mário; Sá, Rosália. "Bleomycin's effects on human sperm motility and vitality in vitro". Paper presented in 16ª edição do IJUP ¿ Encontro de Investigação Jovem da Universidade do Porto, 2023.
  5. Pereira, Sara; Bernardino, Raquel; Martins, Ana D; Moreira, Bruno P.; Barros, Alberto; Sousa, Mário; Paiva, Sandra; Oliveira, Pedro F.; Alves, Marco G.. "Identification of obesity-related genes in Sertoli cells and human spermatozoa.". Paper presented in XX Congreso de la Sociedad Española de Histología e Ingeniería Tisular, 2019.
    10.14670/HH-sehit19
  6. Moreira, Bruno; Martins, Ana; Monteiro, Mariana P; Sousa, Mário; Oliveira, Pedro F; Alves, Marco G. "Leptin modulates biogenesis and mitochondrial function in Sertoli cells ¿ new mechanisms with implications in male reproductive potential.". Paper presented in I NoTeS Congress, 2019.
  7. Sara Pereira; Bernardino, Raquel; Martins, Ana D; Moreira, Bruno P; Barros, Alberto; Sousa, Mário; Paiva, Sandra; Oliveira, Pedro F; Alves, Marco G. "Expression of Obesity-related genes is altered by Leptin-Ghrelin stimuli, in Human Sertoli Cells". Paper presented in VII AEIBAS Biomedical Congress, 2019.
  8. Martins, Ana; Monteiro, Mariana P; Silva, Branca M; Barros, Alberto; Sousa, Mário; Carvalho, Rui A; Oliveira, Pedro F; Alves, Marco G. "Effects of GLP-1 in the glucose metabolism of human Sertoli cells". Paper presented in I NoTeS Congress,, 2018.
  9. Martins, Ana; Monteiro, Mariana P; Sousa, Mário; Oliveira, Pedro F; Alves, Marco G. "Leptin, ghrelin and GLP-1 regulate the metabolic profile of human Sertoli cells". Paper presented in Primeiro Encontro do Doutoramento em Ciências Biomédicas do ICBAS, 2018.
  10. Martins, Ana; Monteiro, Mariana P; Silva, Branca M; Sousa, Mário; Carvalho, Rui A; Oliveira, Pedro F; Alves, Marco G. "Control of energy balance by glucagon like peptide-1 may affect the nutritional support of spermatogenesis.". Paper presented in 42nd Congress of The Federation of the European Biochemical Societies, 2017.
  11. Crisóstomo, Luís; Jarak, Ivana; Carvalho, Rui; Sousa, Mário; Barros, Alberto; Alves, Marco G.; Oliveira, Pedro F.. "Glycerol metabolism in testicular cells ¿ a mitochondrial tale that may control male reproductive potential". 2017.
  12. Martins, Ana; Moreira, Bruno; Barros, Alberto; Sousa, Mário; Monteiro, Mariana P; Oliveira, Pedro F; Alves, Marco G. "Ghrelin, leptin and glp-1 as modulators of the nutritional support of spermatogenesis.". Paper presented in 24th European Congress on Obesity (ECO2017), 2017.
  13. Bernardino, Raquel L.; Dias, Tania Rodrigues; Oliveira, Elsa; Barros, Alberto; Sousa, Mário; Alves, Marco Gouveia; Oliveira, Pedro Fontes. "Morphological and metabolic alterations in human Sertoli cells induced by inhibition of carbonic anhydrase". Paper presented in 42nd Federation of European Biochemical Societies Congress, 2017.
  14. Bernardino, Raquel L.; Dias, Tânia R.; Oliveira, Elsa; Barros, Alberto; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro F.. "Inhibition of carbonic anhydrase induces alterations in morphology and metabolism of human Sertoli cells". Paper presented in 6th i3S Annual Meeting, 2017.
  15. Martins, Ana; Alves, Marco G; Jarak, Ivana; Barros, Alberto; Silva, Joaquina; Sousa, Mário; Oliveira, Pedro F. "Is intratesticular lactate and creatine content a reliable biomarker of testicular dysfunction in men with Klinefelter syndrome?". Paper presented in 2nd International Workshop on Klinefelter Syndrome 2016, 2016.
  16. Bernardino, Raquel L.; Alves, Marco Gouveia; Silva, Joaquina; Barros, Alberto; Ferraz, luis; Sousa, Mário; Sá, Rosália; Oliveira, Pedro Fontes. "Expression of estrogen receptors in testicular tissue of individuals with Klinefelter syndrome". Paper presented in 2nd International Workshop on Klinefelter Syndrome, 2016.
  17. Almeida, Susana P; Martins, Ana; Jarak, Ivana; Barros, Alberto; Sousa, Mário; Oliveira, Pedro F; Alves, Marco G. "Testicular metabolic biomarkers in men with Klinefelter syndrome". Paper presented in UMIB Summit 2015, 2015.
  18. Martins, Ana; Sá, Rosália; Monteiro, Mariana P; Barros, Alberto; Silva, Joaquina; Sousa, Mário; Silva, Branca M; Oliveira, Pedro F.; Alves, Marco G. "Ghrelin modulates human Sertoli cells metabolism: relevance for male fertility.". Paper presented in 40th FEBS Congress, The Biochemical Basis of Life 2015, 2015.
  19. Dias, Tânia R; Alves, Marco G; Bernardino, Raquel L.; Martins, Ana; Moreira, Ana C; Silva, Joaquina; Barros, Alberto; et al. "Caffeine induced alterations in human Sertoli cells metabolism and oxidative profile". Paper presented in 40th FEBS Congress, The Biochemical Basis of Life 2015, 2015.
  20. Meneses, Maria J; Bernardino, Raquel L.; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário; Silva, Branca Maria; Oliveira, Pedro Fontes; Alves, Marco Gouveia. "Pioglitazone alone alters the metabolic support of spermatogenesis but not in combination with metformin: in vitro evidence". Paper presented in III AEICBAS Biomedical Congress, 2015.
  21. Jesus, Tito T.; Bernardino, Raquel L.; Martins, Ana D; Sá, Rosália; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro Fontes. "Aquaporins-4 and -9 are expressed in rat Sertoli cells and interact with the CFTR". Paper presented in IV Encontro Nacional de Pós-graduação em Ciências Biológicas, 2015.
  22. Bernardino, Raquel L.; Alves, Marco Gouveia; Silva, Joaquina; Barros, Alberto; Ferraz, luis; Sousa, Mário; Sá, Rosália; et al. "Estrogen receptors alpha (ER-a), beta (ER-ß) and G protein-coupled receptor 30 (GPR30) in the testicular tissue of individuals with Klinefelter syndrome". Paper presented in UMIB Summit 2015, 2015.
    10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a4751
  23. Alves, Marco G; Jesus, Tito T; Bernardino, Raquel L.; Martins, Ana; Sá, Rosália; Sousa, Mário; Oliveira, Pedro F.. "Water transport in seminiferous tubule: Aquaporins identification in Sertoli cells". Paper presented in XXXVII IUPS Congress 2013, 2013.
  24. Bernardino, Raquel L.; Martins, Ana; Jesus, Tito T; Sá, Rosália; Sousa, Mário; Socorro, Sílvia; Alves, Marco G; Oliveira, Pedro F.. "Regulation by estrogens of bicarbonate secretion mechanisms in Sertoli cells". Paper presented in XXVII IUPS Congress 2013, 2013.
Edited book
  1. Braga Falcão, Pedro; Sousa, Mário; Carvalho, José Carlos Silva. Bíblia: Os Quatro Evangelhos e os Salmos. Fundação Secretariado Nacional da Educação Cristã. 2019.
    Published
Journal article
  1. Marika Bini Antunes; Sara Pinto Cardeal; Manuel Magalhães; Emídio Vale-Fernandes; Márcia Barreiro; Rosália Sá; Mário Sousa. "Preservation of fertility in female patients with hematologic diseases". Blood Reviews (2023): http://dx.doi.org/10.1016/j.blre.2023.101115.
    10.1016/j.blre.2023.101115
  2. M R Ribeiro; A M Calado; Â Alves; R Pereira; M Sousa; R Sá. "SARS-CoV-2 tropism spectrum for human testicular cells". Human Reproduction (2023): http://dx.doi.org/10.1093/humrep/dead093.372.
    10.1093/humrep/dead093.372
  3. Tânia Santos; Ana S. Pires-Luís; Ângela Alves; Elsa Oliveira; Carla Leal; Mónica Fernandes; Emídio Vale-Fernandes; et al. "All that glitters is not gold: a stereological study of human donor oocytes". Zygote (2023): http://dx.doi.org/10.1017/s0967199423000114.
    10.1017/s0967199423000114
  4. Juan Alvarez; agustin garcia-peiro; Alberto Barros; Luís Ferraz; Sousa M; Denny Sakkas. "Double strand DNA breaks in sperm: the bad guy in the crowd". Journal of Assisted Reproduction and Genetics (2023): http://dx.doi.org/10.1007/s10815-023-02748-5.
    10.1007/s10815-023-02748-5
  5. Maria Rita Ribeiro; Ana Margarida Calado; Ângela Alves; Rute Pereira; Sousa M; Sá R. "Spatial Distribution of SARS-CoV-2 Receptors and Proteases in Testicular Cells". Journal of Histochemistry & Cytochemistry (2023): http://dx.doi.org/10.1369/00221554231168916.
    10.1369/00221554231168916
  6. Pereira, Rute; Barbosa, Telma; Cardoso, Ana Lúcia; Sá, Rosália; Sousa, Mário. "Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences". Respiratory Medicine 209 (2023): 107169. http://dx.doi.org/10.1016/j.rmed.2023.107169.
    10.1016/j.rmed.2023.107169
  7. R. Pereira; V. Carvalho; C. Dias; T. Barbosa; J. Oliveira; Â. Alves; E. Oliveira; R. Sá; M. Sousa. "Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility". Journal of Assisted Reproduction and Genetics 40 (2023): 765-778. https://link.springer.com/article/10.1007/s10815-023-02755-6.
    Open access • 10.1007/s10815-023-02755-6
  8. Sá R; Luís Ferraz; Alberto Barros; Sousa M. "The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes". Genes (2023): https://www.mdpi.com/2073-4425/14/3/647.
    10.3390/genes14030647
  9. Eduarda Milheiro Tinoco; Ana Rita Gigante; Edite Ferreira; Inês Sanches; Rute Pereira; Sá R; Regina Monteiro; Sousa M; Ivone Pascoal. "Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic". Genes (2023): https://www.mdpi.com/2073-4425/14/3/541.
    10.3390/genes14030541
  10. Rute Pereira; Sousa M. "Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum". Genes (2023): https://www.mdpi.com/2073-4425/14/2/383.
    10.3390/genes14020383
  11. Sousa M. "Preimplantation genetic testing for familial amyloid polyneuropathy.". Reproductive health (2022): http://europepmc.org/abstract/med/36401333.
    10.1186/s12978-022-01491-x
  12. Ribeiro S; Sousa M. "In Vitro Fertilisation and Intracytoplasmic Sperm Injection predictive factors: A review of the effect of female age, ovarian reserve, male age, and male factor on IVF/ICSI treatment outcomes.". JBRA assisted reproduction (2022): http://europepmc.org/abstract/med/35916467.
    10.5935/1518-0557.20220000
  13. Carolina Silva; Paulo Viana; Alberto Barros; Sá R; Sousa M; Rute Pereira. "Further Insights on RNA Expression and Sperm Motility". Genes (2022): https://www.mdpi.com/2073-4425/13/7/1291.
    10.3390/genes13071291
  14. M Sousa; M Cunha; M Pereira; J Silva; A Gonçalves; P Viana; N Barros; et al. "Clinical outcomes of 127 patients with recurrent implantation failure treated with testicular sperm aspiration (TESA)". Human Reproduction (2022): http://dx.doi.org/10.1093/humrep/deac107.060.
    10.1093/humrep/deac107.060
  15. Sara Pereira; Inês F. Esperança; Soraia Pinto; Alberto Barros; Sousa M; Marco G: Alves; P.F. Oliveira. "Pregnancy Achievement by Medical Assisted Reproduction Is Correlated to the G Protein-Coupled Receptor 30 mRNA Abundance in Human Spermatozoa". Applied Sciences (2022): https://www.mdpi.com/2076-3417/12/7/3240.
    10.3390/app12073240
  16. S Mendes; Sá R; Manuel Magalhães; Franklim Marques; Sousa M; Elisabete Silva. "The Role of ROS as a Double-Edged Sword in (In)Fertility: The Impact of Cancer Treatment". Cancers (2022): https://www.mdpi.com/2072-6694/14/6/1585.
    10.3390/cancers14061585
  17. Ana Gonçalves; Ana Fortuna; Yavuz Ariyurek; Márcia Oliveira; Goreti Nadais; Jorge Pinheiro; Johan T. den Dunnen; et al. "Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)". International Journal of Molecular Sciences (2021): https://www.mdpi.com/1422-0067/23/1/59.
    10.3390/ijms23010059
  18. Barros P; Cunha M; Barros A; Sousa M; Dória S. "Clinical outcomes of 77 TESE treatment cycles in non-mosaic Klinefelter syndrome patients.". JBRA assisted reproduction (2021): http://europepmc.org/abstract/med/34751018.
    10.5935/1518-0557.20210081
  19. Sousa, Mário. "Syngamy, pronucleus, pronuclear breakdown and zygote". Asian Pac J Reprod (2021): http://www.apjr.net/text.asp?2021/10/5/239/326723.
    10.4103/2305-0500.326723
  20. M Maia; C Almeida; M Cunha; A Gonçalves; S S Soares; M Severo; C J Marques; et al. "Impact of semen parameters, sperm DNA fragmentation and sperm aneuploidy in male infertility". Human Reproduction 36 Supplement (2021): http://dx.doi.org/10.1093/humrep/deab130.041.
    10.1093/humrep/deab130.041
  21. P Barros; M Cunha; A Barros; S Dória; M Sousa. "P–038 Clinical outcomes of 77 testicular sperm extraction treatment cycles in non-mosaic Klinefelter syndrome patients". Human Reproduction 36 Supplement (2021): http://dx.doi.org/10.1093/humrep/deab130.037.
    10.1093/humrep/deab130.037
  22. Pereira, Sara C.; Esperança, Inês F; Pinto, S; Barros, Alberto; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro F.. "Association of GPR30 transcript abundance in human spermatozoa with outcomes of assisted reproduction". Research@UA 2020 (2021):
    Published
  23. Silva JV; Santiago J; Sousa M; Oliveira PF; Fardilha M. "New evidences of ubiquitin-proteasome system activity in human sperm.". Biochimica et biophysica acta. Molecular cell research (2021): http://europepmc.org/abstract/med/33338520.
    10.1016/j.bbamcr.2020.118932
  24. Moreira BP; Silva AM; Martins AD; Monteiro MP; Sousa M; Oliveira PF; Alves MG. "Effect of Leptin in Human Sertoli Cells Mitochondrial Physiology.". Reproductive sciences (Thousand Oaks, Calif.) (2021): http://europepmc.org/abstract/med/32997289.
    10.1007/s43032-020-00328-x
  25. Marcos, Hugo; Soares Santos, Tiago; Gonçalves, Paulo; Sousa, Mário; Oliveira, Elsa; Carvalho, Carlos; Alanin, Mikkel Christian. "Primary Ciliary Diskinesia with Structuraly Normal Cilia: an unusual diagnosis". Acta Otorrinolaringológica Gallega (2020):
    Under revision
  26. Pereira SC; Crisóstomo L; Sousa M; Oliveira PF; Alves MG. "Metabolic diseases affect male reproduction and induce signatures in gametes that may compromise the offspring health.". Environmental epigenetics (2020): http://europepmc.org/abstract/med/33324496.
    10.1093/eep/dvaa019
  27. Marques J; Carvalho F; Barros A; Sousa M. "Epimutations in human sperm from patients with impaired spermatogenesis.". Clinical epigenetics (2020): http://europepmc.org/abstract/med/33203461.
    10.1186/s13148-020-00919-0
  28. "Is Hyperglycemia the trigger for Diabetes-related Male Infertility?". European Journal of Clinical Investigation 50 S1 (2020): http://dx.doi.org/10.1111/eci.13369.
    10.1111/eci.13369
  29. Coelho S; Pires-Luís AS; Oliveira E; Alves Â; Leal C; Cunha M; Barreiro M; et al. "Stereological study of organelle distribution in human oocytes at metaphase I.". Zygote (Cambridge, England) 28 4 (2020): 308-312. http://europepmc.org/abstract/med/32285762.
    Published • 10.1017/s0967199420000131
  30. Lopes AC; Oliveira PF; Pinto S; Almeida C; Pinho MJ; Sá R; Rocha E; Barros A; Sousa M. "Discordance between human sperm quality and telomere length following differential gradient separation/swim-up.". Journal of assisted reproduction and genetics (2020): http://europepmc.org/abstract/med/32767207.
    10.1007/s10815-020-01897-1
  31. Carrageta DF; Guerra-Carvalho B; Sousa M; Barros A; Oliveira PF; Monteiro MP; Alves MG. "Mitochondrial Activation and Reactive Oxygen-Species Overproduction during Sperm Capacitation are Independent of Glucose Stimuli.". Antioxidants (Basel, Switzerland) (2020): http://europepmc.org/abstract/med/32823893.
    10.3390/antiox9080750
  32. Nunes JS; Sousa M; Montenegro N; Matias A. "Twin Pregnancies, Crown-rump Length and Birthweight Discordancy: The Influence of Chorionicity.". Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia (2020): http://europepmc.org/abstract/med/32559796.
    10.1055/s-0040-1712128
  33. Rabaça A; Ferreira C; Bernardino R; Alves M; Oliveira P; Viana P; Barros A; Sousa M; Sá R. "Use of antioxidant could ameliorate the negative impact of etoposide on human sperm DNA during chemotherapy.". Reproductive biomedicine online (2020): http://europepmc.org/abstract/med/32376314.
    10.1016/j.rbmo.2020.01.029
  34. Braga PC; Pereira SC; Ribeiro JC; Sousa M; Monteiro MP; Oliveira PF; Alves MG. "Late-onset hypogonadism and lifestyle-related metabolic disorders.". Andrology (2020): http://europepmc.org/abstract/med/31991053.
    10.1111/andr.12765
  35. Pereira R; Oliveira J; Sousa M. "Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics.". Journal of clinical medicine (2020): http://europepmc.org/abstract/med/31947757.
    10.3390/jcm9010132
  36. Coelho, S.; Pires-Luís, A.S.; Oliveira, E.; Alves, Â.; Leal, C.; Cunha, M.; Barreiro, M.; et al. "Stereological study of organelle distribution in human oocytes at metaphase i". Zygote (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85083362126&partnerID=MN8TOARS.
    10.1017/S0967199420000131
  37. Pereira R; Barbosa T; Alves Â; Santos R; Oliveira J; Sousa M. "Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.". Advances in medical sciences (2019): http://europepmc.org/abstract/med/31835165.
    10.1016/j.advms.2019.10.003
  38. Pavani KC; Rocha A; Oliveira E; da Silva FM; Sousa M. "Novel ultrastructural findings in bovine oocytes matured in vitro.". Theriogenology (2019): http://europepmc.org/abstract/med/31862672.
    10.1016/j.theriogenology.2019.12.003
  39. Pereira R; Barbosa T; Gales L; Oliveira E; Santos R; Oliveira J; Sousa M. "Clinical and Genetic Analysis of Children with Kartagener Syndrome.". Cells (2019): http://europepmc.org/abstract/med/31443223.
    10.3390/cells8080900
  40. Bernardino RL; Carrageta DF; Sousa M; Alves MG; Oliveira PF. "pH and male fertility: making sense on pH homeodynamics throughout the male reproductive tract.". Cellular and molecular life sciences : CMLS (2019): http://europepmc.org/abstract/med/31165202.
    10.1007/s00018-019-03170-w
  41. Pereira R; Oliveira ME; Santos R; Oliveira E; Barbosa T; Santos T; Gonçalves P; et al. "Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.". Journal of assisted reproduction and genetics (2019): http://europepmc.org/abstract/med/31273583.
    10.1007/s10815-019-01509-7
  42. Dias TR; Bernardino RL; Alves MG; Silva J; Barros A; Sousa M; Casal S; Silva BM; Oliveira PF. "L-Theanine promotes cultured human Sertoli cells proliferation and modulates glucose metabolism.". European journal of nutrition (2019): http://europepmc.org/abstract/med/31183510.
    10.1007/s00394-019-01999-2
  43. Silva JV; Cabral M; Correia BR; Carvalho P; Sousa M; Oliveira PF; Fardilha M. "mTOR Signaling Pathway Regulates Sperm Quality in Older Men.". Cells (2019): http://europepmc.org/abstract/med/31234465.
    10.3390/cells8060629
  44. Candoso B; Meneses MJ; Alves MG; Sousa M; Oliveira PF. "Molecular aspects of collagenolysis associated with stress urinary incontinence in women with urethral hypermobility vs intrinsic sphincter deficiency.". Neurourology and urodynamics (2019): http://europepmc.org/abstract/med/31099099.
    10.1002/nau.24026
  45. Lopes AC; Oliveira PF; Sousa M. "Shedding light into the relevance of telomeres in human reproduction and male factor infertility†.". Biology of reproduction (2019): http://europepmc.org/abstract/med/30285087.
    10.1093/biolre/ioy215
  46. Bernardino RL; Dias TR; Moreira BP; Cunha M; Barros A; Oliveira E; Sousa M; Alves MG; Oliveira PF. "Carbonic anhydrases are involved in mitochondrial biogenesis and control the production of lactate by human Sertoli cells.". The FEBS journal (2019): http://europepmc.org/abstract/med/30724485.
    10.1111/febs.14779
  47. Baetas J; Rabaça A; Gonçalves A; Barros A; Sousa M; Sá R. "Protective role of N-acetylcysteine (NAC) on human sperm exposed to etoposide.". Basic and clinical andrology (2019): http://europepmc.org/abstract/med/30774957.
    10.1186/s12610-018-0082-2
  48. Lopes, AD; Oliveira, Pedro F.; Pinto, S; Almeida, Carolina; Pinho, Maria João; Sá, Rosália; Barros, Alberto; Sousa, Mário. "Sperm telomere length is correlated with sperm quality in normozoospermic patients.". Human Reproduction 34 S1 (2019): I85.
    Published
  49. Moreira BP; Monteiro MP; Sousa M; Oliveira PF; Alves MG. "Insights into leptin signaling and male reproductive health: the missing link between overweight and subfertility?". The Biochemical journal (2018): http://europepmc.org/abstract/med/30459203.
    10.1042/bcj20180631
  50. Costa J; Pereira R; Oliveira J; Alves Â; Marques-Magalhães Â; Frutuoso A; Leal C; et al. "Structural and molecular analysis of the cancer prostate cell line PC3: Oocyte zona pellucida glycoproteins.". Tissue & cell (2018): http://europepmc.org/abstract/med/30503065.
    10.1016/j.tice.2018.11.001
  51. Martins AD; Monteiro MP; Silva BM; Barros A; Sousa M; Carvalho RA; Oliveira PF; Alves MG. "Metabolic dynamics of human Sertoli cells are differentially modulated by physiological and pharmacological concentrations of GLP-1.". Toxicology and applied pharmacology (2018): http://europepmc.org/abstract/med/30296456.
    10.1016/j.taap.2018.10.009
  52. Oliveira J; Gruber A; Cardoso M; Taipa R; Fineza I; Gonçalves A; Laner A; et al. "LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-a2 variome and its related phenotypes.". Human mutation (2018): http://europepmc.org/abstract/med/30055037.
    10.1002/humu.23599
  53. Jarak I; Almeida S; Carvalho RA; Sousa M; Barros A; Alves MG; Oliveira PF. "Senescence and declining reproductive potential: Insight into molecular mechanisms through testicular metabolomics.". Biochimica et biophysica acta. Molecular basis of disease (2018): http://europepmc.org/abstract/med/30059728.
    10.1016/j.bbadis.2018.07.028
  54. Tania Rodrigues Dias; Raquel Lages Bernardino; Marco Gouveia Alves; Joaquina Silva; Alberto Barros; Mário Sousa; Susana Casal; Branca Maria Silva; Pedro Fontes Oliveira. "L-theanine modulates human Sertoli cells metabolic and mitochondrial function while maintaining redox homeostasis". Free Radical Biology and Medicine 120 (2018): S150-S150. http://dx.doi.org/10.1016/j.freeradbiomed.2018.04.496.
    10.1016/j.freeradbiomed.2018.04.496
  55. Moreira, B.P.; Monteiro, M.P.; Sousa, M.; Oliveira, P.F.; Alves, M.G.. "Insights into leptin signaling and male reproductive health: The missing link between overweight and subfertility?". Biochemical Journal 475 22 (2018): 3535-3560. http://www.scopus.com/inward/record.url?eid=2-s2.0-85056803156&partnerID=MN8TOARS.
    10.1042/BCJ20180631
  56. Tavares, R.S.; Escada-Rebelo, S.; Silva, A.F.; Sousa, M.I.; Ramalho-Santos, J.; Amaral, S.. "Antidiabetic therapies and male reproductive function: where do we stand?". Reproduction 155 1 (2018): R13-R37. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041534439&partnerID=MN8TOARS.
    10.1530/REP-17-0390
  57. Oliveira, Pedro F.; Crisóstomo, Luís; Sousa, Mário; Monteiro, Mariana P.; Macedo, Maria; JOAO FILIPE RAPOSO; Alves, Marco G.. "O papel do Espermatozoide na Transmissão à Descendência do Risco para Diabetes Mellitus". Revista Portuguesa de Diabetes 12 4 (2017): 149-158. http://www.revportdiabetes.com/wp-content/uploads/2018/02/RPD-Vol-12-n%C2%BA-4-Dezembro-2017-Artigo-Revis%C3%A3o-p%C3%A1g-149-158.pdf.pdf.
    Published
  58. Sousa, Mário. "Glycerol and testicular activity: the good, the bad and the ugly.". Molecular human reproduction (2017): http://europepmc.org/abstract/med/28961924.
    10.1093/molehr/gax049
  59. Sousa, Mário. "The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.". Clinical genetics (2017): http://europepmc.org/abstract/med/28218388.
    10.1111/cge.12997
  60. Sousa, Mário. "Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.". Genes (2017): http://europepmc.org/abstract/med/28972564.
    10.3390/genes8100253
  61. Sousa, Mário. "Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).". Reproductive biomedicine online (2017): http://europepmc.org/abstract/med/29079197.
    10.1016/j.rbmo.2017.09.010
  62. Sousa, Mário. "Corino de Andrade disease: mechanisms and impact on reproduction.". JBRA assisted reproduction (2017): http://europepmc.org/abstract/med/28609277.
    10.5935/1518-0557.20170025
  63. Sousa, Mário. "DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients.". Andrology (2017): http://europepmc.org/abstract/med/28296202.
    10.1111/andr.12329
  64. Sousa, Mário. "Fertility and sperm quality in the aging male.". Current pharmaceutical design (2017): http://europepmc.org/abstract/med/28472913.
    10.2174/1381612823666170503150313
  65. Dias TR; Alves MG; Silva J; Barros A; Sousa M; Casal S; Silva BM; Oliveira PF. "Implications of epigallocatechin-3-gallate in cultured human Sertoli cells glycolytic and oxidative profile.". (2017): http://europepmc.org/abstract/med/28323106.
    10.1016/j.tiv.2017.03.006
  66. Oliveira PF; Sousa M; Silva BM; Monteiro MP; Alves MG. "Obesity, energy balance and spermatogenesis.". (2017): http://europepmc.org/abstract/med/28283671.
    10.1530/rep-17-0018
  67. Jesus TT; Oliveira PF; Sousa M; Cheng CY; Alves MG. "Mammalian target of rapamycin (mTOR): a central regulator of male fertility?". (2017): http://europepmc.org/abstract/med/28124577.
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  70. Sousa, Mário. "Spermatogenesis in freshwater mussel Anodonta cygnea (L.): environmental impact on seasonal cycle". International Journal of Zoological Investigations (2017):
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  71. Sousa, Mário. "Live birth delivery predictors of ICSI cycles with ejaculated sperm". Human reproduction (2017):
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  74. Gonçalves, C.; Cunha, M.; Rocha, E.; Fernandes, S.; Silva, J.; Ferraz, L.; Oliveira, C.; Barros, A.; Sousa, M.. "Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia". Asian Journal of Andrology 19 3 (2017): 338-345. http://www.scopus.com/inward/record.url?eid=2-s2.0-85018962703&partnerID=MN8TOARS.
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  75. Pereira, R.; Sá, R.; Barros, A.; Sousa, M.. "Major regulatory mechanisms involved in sperm motility". Asian Journal of Andrology 19 1 (2017): 5-14. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008657990&partnerID=MN8TOARS.
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  77. Crisóstomo, L.; Alves, M.G.; Calamita, G.; Sousa, M.; Oliveira, P.F.. "Glycerol and testicular activity: The good, the bad and the ugly". Molecular Human Reproduction 23 12 (2017): 725-737. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044230189&partnerID=MN8TOARS.
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  79. Meneses MJ; Bernardino RL; Sá R; Silva J; Barros A; Sousa M; Silva BM; Oliveira PF; Alves MG. "Pioglitazone increases the glycolytic efficiency of human Sertoli cells with possible implications for spermatogenesis.". (2016): http://europepmc.org/abstract/med/27515589.
    10.1016/j.biocel.2016.08.011
  80. Romão R; Bettencourt E; Pereira RM; Marques CC; Baptista MC; Barbas JP; Oliveira E; Bettencourt C; Sousa M. "Ultrastructural Characterization of Fresh and Vitrified In Vitro- and In Vivo-Produced Sheep Embryos.". (2016): http://europepmc.org/abstract/med/27144917.
    10.1111/ahe.12191
  81. Sousa, Mário. "A stereological study on organelle distribution in human oocytes at prophase I". Zygote (2016): http://dx.doi.org/10.1017/s0967199415000258.
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  82. Bernardino RL; Alves MG; Silva J; Barros A; Ferraz L; Sousa M; Sá R; Oliveira PF. "Expression of Estrogen Receptors Alpha (ER-a), Beta (ER-ß), and G Protein-Coupled Receptor 30 (GPR30) in Testicular Tissue of Men with Klinefelter Syndrome.". (2016): http://europepmc.org/abstract/med/27171834.
    10.1055/s-0042-105151
  83. Oliveira J; Gonçalves A; Taipa R; Melo-Pires M; Oliveira ME; Costa JL; Machado JC; et al. "New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.". (2016): http://europepmc.org/abstract/med/26841830.
    10.1038/jhg.2016.2
  84. Rato L; Meneses MJ; Silva BM; Sousa M; Alves MG; Oliveira PF. "New insights on hormones and factors that modulate Sertoli cell metabolism.". (2016): http://europepmc.org/abstract/med/26711246.
    10.14670/HH-11-717
  85. Sousa M; Cunha M; Silva J; Oliveira E; Pinho MJ; Almeida C; Sá R; et al. "Ultrastructural and cytogenetic analyses of mature human oocyte dysmorphisms with respect to clinical outcomes.". (2016): http://europepmc.org/abstract/med/27221476.
  86. Póvoa A; Xavier P; Calejo L; Soares S; Sousa M; Silva J; Sousa S; Barros A; Beires J. "First transplantation of cryopreserved ovarian tissue in Portugal, stored for 10 years: an unexpected indication.". (2016): http://europepmc.org/abstract/med/26776823.
    10.1016/j.rbmo.2015.12.002
  87. Alves MG; Martins AD; Jarak I; Barros A; Silva J; Sousa M; Oliveira PF. "Testicular lactate content is compromised in men with Klinefelter Syndrome.". (2016): http://europepmc.org/abstract/med/26676340.
    10.1002/mrd.22608
  88. Jesus TT; Oliveira PF; Silva J; Barros A; Ferreira R; Sousa M; Cheng CY; Silva BM; Alves MG. "Mammalian target of rapamycin controls glucose consumption and redox balance in human Sertoli cells.". (2016): http://europepmc.org/abstract/med/26698679.
    10.1016/j.fertnstert.2015.11.032
  89. Goncalves C; Cunha M; Rocha E; Fernandes S; Silva J; Ferraz L; Oliveira C; Barros A; Sousa M. "Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia.". (2016): http://europepmc.org/abstract/med/26908064.
    10.4103/1008-682x.172827
  90. Bernardino RL; Costa AR; Martins AD; Silva J; Barros A; Sousa M; Sá R; Alves MG; Oliveira PF. "Estradiol modulates Na(+) -dependent HCO3 (-) transporters altering intracellular pH and ion transport in human Sertoli cells: A role on male fertility?". (2016): http://europepmc.org/abstract/med/26888167.
    10.1111/boc.201500094
  91. Almeida S; Alves MG; Sousa M; Oliveira PF; Silva BM. "Are Polyphenols Strong Dietary Agents Against Neurotoxicity and Neurodegeneration?". (2016): http://europepmc.org/abstract/med/26745969.
  92. Sousa, Mário. "New ultrastructural observations of human oocyte smooth endoplasmic reticulum tubular aggregates and cortical reaction: update on the molecular mechanisms involved". (2016):
    10.1016/j.androl.2016.04.005
  93. Dias TR; Bernardino RL; Meneses MJ; Sousa M; Sá R; Alves MG; Silva BM; Oliveira PF. "Emerging Potential of Natural Products as an Alternative Strategy to Pharmacological Agents Used Against Metabolic Disorders.". (2016): http://europepmc.org/abstract/med/26923396.
  94. Martins, A.D.; Sá, R.; Monteiro, M.P.; Barros, A.; Sousa, M.; Carvalho, R.A.; Silva, B.M.; Oliveira, P.F.; Alves, M.G.. "Ghrelin acts as energy status sensor of male reproduction by modulating Sertoli cells glycolytic metabolism and mitochondrial bioenergetics". Molecular and Cellular Endocrinology 434 (2016): 199-209. http://www.scopus.com/inward/record.url?eid=2-s2.0-84978286078&partnerID=MN8TOARS.
    10.1016/j.mce.2016.07.008
  95. Alves, M.G.; Jesus, T.T.; Sousa, M.; Goldberg, E.; Silva, B.M.; Oliveira, P.F.. "Male fertility and obesity: Are ghrelin, leptin and glucagon-like peptide-1 pharmacologically relevant?". Current Pharmaceutical Design 22 7 (2016): 783-791. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958554664&partnerID=MN8TOARS.
  96. Dias, T.R.; Bernardino, R.L.; Meneses, M.J.; Sousa, M.; Sá, R.; Alves, M.G.; Silva, B.M.; Oliveira, P.F.. "Emerging potential of natural products as an alternative strategy to pharmacological agents used against metabolic disorders". Current Drug Metabolism 17 6 (2016): 582-597. http://www.scopus.com/inward/record.url?eid=2-s2.0-84973894757&partnerID=MN8TOARS.
  97. Sousa, M.; Cunha, M.; Silva, J.; Oliveira, E.; Pinho, M.J.; Almeida, C.; Sá, R.; et al. "Ultrastructural and cytogenetic analyses of mature human oocyte dysmorphisms with respect to clinical outcomes". Journal of Assisted Reproduction and Genetics 33 8 (2016): 1041-1057. http://www.scopus.com/inward/record.url?eid=2-s2.0-84970003144&partnerID=MN8TOARS.
    10.1007/s10815-016-0739-8
  98. Almeida, S.; Alves, M.G.; Sousa, M.; Oliveira, P.F.; Silva, B.M.. "Are Polyphenols Strong Dietary Agents Against Neurotoxicity and Neurodegeneration?". Neurotoxicity Research 30 3 (2016): 345-366. http://www.scopus.com/inward/record.url?eid=2-s2.0-84953388179&partnerID=MN8TOARS.
    10.1007/s12640-015-9590-4
  99. Pires-Luís, A.S.; Rocha, E.; Bartosch, C.; Oliveira, E.; Silva, J.; Barros, A.; Sá, R.; Sousa, M.. "A stereological study on organelle distribution in human oocytes at prophase i". Zygote 24 3 (2016): 346-354. http://www.scopus.com/inward/record.url?eid=2-s2.0-84957953677&partnerID=MN8TOARS.
    10.1017/S0967199415000258
  100. Rato, L.; Alves, M.G.; Silva, B.M.; Sousa, M.; Oliveira, P.F.. "Sirtuins: Novel players in male reproductive health". Current Medicinal Chemistry 23 11 (2016): 1084-1099. http://www.scopus.com/inward/record.url?eid=2-s2.0-84966318742&partnerID=MN8TOARS.
    10.2174/0929867323666160229114248
  101. FCT. "Influência do estradiol nos transportadores membranares de bicarbonato dependentes de sódio da família SLC4 em células de Sertoli humanas". (2016): http://revistas.ua.pt/index.php/captar/article/view/3581.
  102. FCT; CICS-UBI; UMIB; COMPETE / QREN & FSE e fundos POPH. "A metformina reduz a fragmentação do DNA e a condensação imatura da cromatina em espermatozoides humanos in vitro". (2016): http://revistas.ua.pt/index.php/captar/article/view/3614.
  103. FCT; COMPETE / QREN & FSE e fundos POPH; FMUP. "N-acetilcisteína como agente protetor de espermatozoides expostos ao agente quimioterapêutico etoposido". (2016): http://revistas.ua.pt/index.php/captar/article/view/3607.
  104. FCT; COMPETE / QREN & FSE e fundos POPH. "Identificação das isoformas Aquaporina 4 e 9 e a sua interação com o CFTR (regulador de condutância trans-membranar de fibrose cística) em células de Sertoli de rato". (2016): http://revistas.ua.pt/index.php/captar/article/view/3597.
  105. FCT; COMPETE / QREN & FSE e fundos POPH. "Ação da leptina no metabolismo da glucose das células de Sertoli: impacto na fertilidade masculina". (2016): http://revistas.ua.pt/index.php/captar/article/view/3600.
  106. FCT; COMPETE / QREN & FSE e fundos POPH. "Os antidiabéticos Pioglitazona e Metformina modulam a cooperação metabólica testicular". (2016): http://revistas.ua.pt/index.php/captar/article/view/3602.
  107. Jesus, Tito T.; Bernardino, Raquel L.; Martins, Ana D; Sá, Rosália; Sousa, Mário; Alves, Marco G.; Oliveira, Pedro F.. "As aquaporinas-4 e -9 são expressas em células de Sertoli de rato e interagem com o CFTR.". Revista Captar: Ciência e Ambiente para Todos 6 1 (2016): 38-39.
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  108. J. Meneses, Maria; Bernardino, Raquel L.; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "Os antidiabéticos Pioglitazona e Metformina alteram a cooperação metabólica no testículo.". Revista Captar: Ciência e Ambiente para Todos 6 1 (2016): 47-48.
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  109. Martins, Ana D; Sá, Rosália; Monteiro, Mariana P.; Barros, Alberto; Sousa, Mário; Carvalho, RA; Carvalho, R; Carvalho Rui; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "Ghrelin dysfunction may alter the reproductive potential of males by disrupting the nutritional support of spermatogenesis. Disfunção da grelina pode alterar o potencial reprodutivo masculino por perturbar o suporte nutricional da espermatogénese.". Acta Farmacêutica Portuguesa 5 2 (2016): 121-127.
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  110. Meneses, Maria João; Bernardino, Raquel L.; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "The antidiabetic drug Pioglitazone alters human Sertoli cells metabolism by increasing its glycolitic efficiency.". Medicine 95 1 (2016): e2371-6.
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  111. Rabaça, Ana; Gonçalves, Ana; Ferreira, Catarina; Bernardino, Raquel L.; Barros, Alberto; Alves, Marco G.; Sousa, Mário; Oliveira, Pedro F.; Sá, Rosália. "Protective effects of N-acetylcysteine on human sperm DNA during short-term etoposide exposure.". Medicine 95 10 (2016): e2371-6-7.
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  112. Ferreira, Carolina; Gonçalves, Ana; Rabaça, Ana; Bernardino, Raquel L.; Barros, Alberto; Oliveira, Pedro F.; Sousa, Mário; Alves, Marco G.; Sá, Rosália. "Metformin preserves human sperm DNA integrity during short-term incubation.". Medicine 95 10 (2016): e2371-7.
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  113. Bernardino, Raquel L.; Alves, Marco G.; Silva, Joaquina; Barros, Alberto; Ferraz, Luís; Sousa, Mário; Sá, Rosália; Oliveira, Pedro F.. "Estrogen receptors alfa (ER-a), beta (ER-ß) and G protein-coupled receptor 30 (GPR30) in the testicular tissue of individuals with Klinefelter syndrome.". Medicine 95 10 (2016): e2371-8-9.
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  114. Martins, Ana D; Moreira, AC; Sá, Rosália; Monteiro, Mariana P.; Sousa, Mário; Carvalho, RA; Carvalho, R; Carvalho Rui; Silva, Branca M.; Oliveira, Pedro F.; Alves, Marco G.. "Leptin modulates human Sertoli cells glucose metabolism: relevance for obesity-induced male infertility.". Medicine 95 10 (2016): e2371-10-11.
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  116. Sousa, Mário; Soares, C.; Azevedo, AR; Pinho, Maria João; Almeida, Carolina; Silva, Joaquina; Cunha, Mariana; et al. "Ultrastructure and cytogenetic analysis of bull-eye inclusions and granular vesicles in human oocytes with evaluation of embryological, clinical and newborn outcomes after ICSI.". Human Reproduction 31 S1 (2016): I195-I196.
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  118. Pereira R; Sá R; Barros A; Sousa M. "Major regulatory mechanisms involved in sperm motility.". (2015): http://europepmc.org/abstract/med/26680031.
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  121. Bernardino RL; Martins AD; Jesus TT; Sá R; Sousa M; Alves MG; Oliveira PF. "Estrogenic regulation of bicarbonate transporters from SLC4 family in rat Sertoli cells.". (2015): http://europepmc.org/abstract/med/26100313.
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  122. Lima AC; Carvalho F; Gonçalves J; Fernandes S; Marques PI; Sousa M; Barros A; et al. "Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.". (2015): http://europepmc.org/abstract/med/26139570.
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  125. Sousa, Mário. "The Use of Spermatogonial Stem Cells In Cancer-Induced Infertility". International Journal of Stem Cell Research and Transplantation (2015): http://dx.doi.org/10.19070/2328-3548-150005e.
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  126. Sousa, Mário. "Effect of in vitro exposure to lead chloride on semen quality and sperm DNA fragmentation". Zygote (2015): http://dx.doi.org/10.1017/s0967199413000671.
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  127. Meneses MJ; Sousa M; Alves MG; Oliveira PF. "The Antidiabetic Drug Metformin and Male Reproductive Function: An Overview". International Journal of Diabetology & Vascular Disease Research (2015): 1-2. http://dx.doi.org/10.19070/2328-353x-150008e.
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  129. Sousa, Mário. "NGS and Male Infertility: Biomarkers Wanted". Annual Research & Review in Biology (2015): http://dx.doi.org/10.9734/arrb/2015/20263.
    10.9734/arrb/2015/20263
  130. Reis, M.M.S.; Moreira, A.C.; Sousa, M.; Mathur, P.P.; Oliveira, P.F.; Alves, M.G.. "Sertoli cell as a model in male reproductive toxicology: Advantages and disadvantages". Journal of Applied Toxicology 35 8 (2015): 870-883. http://www.scopus.com/inward/record.url?eid=2-s2.0-84932192396&partnerID=MN8TOARS.
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  202. Laurentino, S.; Gonalves, J.; Cavaco, J.E.; Oliveira, P.F.; Alves, M.G.; De Sousa, M.; Barros, A.; Socorro, S.. "Apoptosis-inhibitor Aven is downregulated in defective spermatogenesis and a novel estrogen target gene in mammalian testis". Fertility and Sterility 96 3 (2011): 745-750. http://www.scopus.com/inward/record.url?eid=2-s2.0-80052262541&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2011.06.009
  203. Sousa, Mário. "Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses". Journal of Assisted Reproduction and Genetics (2010): http://dx.doi.org/10.1007/s10815-010-9460-1.
    10.1007/s10815-010-9460-1
  204. Havasi, V.; Rowe, S.M.; Kolettis, P.N.; Dayangac, D.; Ahin, A.; Grangeia, A.; Carvalho, F.; et al. "Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens". Fertility and Sterility 94 6 (2010): 2122-2127. http://www.scopus.com/inward/record.url?eid=2-s2.0-78049277842&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2009.11.044
  205. Monteiro, S.M.; Oliveira, E.; Fontaínhas-Fernandes, A.; Sousa, M.. "Fine structure of the branchial epithelium in the teleost Oreochromis niloticus". Journal of Morphology 271 5 (2010): 621-633. http://www.scopus.com/inward/record.url?eid=2-s2.0-77950418252&partnerID=MN8TOARS.
    10.1002/jmor.10821
  206. Lopes, G.; Rocha, A.; Sousa, M.. "Comparative ultrastructural analysis of diestrous and anestrous canine Grade 1 cumulus-oocyte complexes". Animal Reproduction Science 122 3-4 (2010): 244-252. http://www.scopus.com/inward/record.url?eid=2-s2.0-78649829983&partnerID=MN8TOARS.
    10.1016/j.anireprosci.2010.08.018
  207. Carvalho, B.; Dória, S.; Ramalho, C.; Brandão, O.; Sousa, M.; Matias, A.; Barros, A.; Carvalho, F.. "Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: An alternative for speeding up results?". European Journal of Obstetrics Gynecology and Reproductive Biology 153 2 (2010): 151-155. http://www.scopus.com/inward/record.url?eid=2-s2.0-78249256291&partnerID=MN8TOARS.
    10.1016/j.ejogrb.2010.06.022
  208. Monteiro, S.M.; Fontainhas-Fernandes, A.; Sousa, M.. "An immunohistochemical study of gill epithelium cells in the Nile tilapia, Oreochromis niloticus". Folia Histochemica et Cytobiologica 48 1 (2010): 112-121. http://www.scopus.com/inward/record.url?eid=2-s2.0-77954378223&partnerID=MN8TOARS.
    10.2478/v10042-008-0105-5
  209. Pinheiro, A.; Faustino, I.; Silva, M.J.; Silva, J.; Sá, R.; Sousa, M.; Barros, A.; de Almeida, I.T.; Rivera, I.. "Human testis-specific PDHA2 gene: Methylation status of a CpG island in the open reading frame correlates with transcriptional activity". Molecular Genetics and Metabolism 99 4 (2010): 425-430. http://www.scopus.com/inward/record.url?eid=2-s2.0-77649339572&partnerID=MN8TOARS.
    10.1016/j.ymgme.2009.11.002
  210. Dória, S.; Sousa, M.; Fernandes, S.; Ramalho, C.; Brandão, O.; Matias, A.; Barros, A.; Carvalho, F.. "Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths.". Epigenetics : official journal of the DNA Methylation Society 5 5 (2010): 444-450. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953816234&partnerID=MN8TOARS.
    10.4161/epi.5.5.12118
  211. Marques, C.J.; Francisco, T.; Sousa, S.; Carvalho, F.; Barros, A.; Sousa, M.. "Methylation defects of imprinted genes in human testicular spermatozoa". Fertility and Sterility 94 2 (2010): 585-594. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953712614&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2009.02.051
  212. Dória, S.; Sousa, M.; Fernandes, S.; Ramalho, C.; Brandão, O.; Matias, A.; Barros, A.; Carvalho, F.. "Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or foetal deaths". Epigenetics 5 5 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77954680732&partnerID=MN8TOARS.
  213. A. S. Lopes; E. Oliveira; M. Cunha; J. Silva; A. Barros; M. Sousa. "Ultrastructure of a Human Giant MII Oocyte: case report". Reproduction, Fertility and Development 22 1 (2010): 329-329. http://dx.doi.org/10.1071/rdv22n1ab346.
    10.1071/rdv22n1ab346
  214. Pinheiro, A.; Faustino, I.; Silva, M.J.; Silva, Joaquina; Sá, Rosália; Sousa, Mário; Barros, Alberto; de Almeida, I.T.; Rivera, I.. "Demethylation of the coding region is pivotal for transcription of the human testis-specific PDHA2 gene.". Journal of Inherited Metabolic Disease 33 S85 (2010):
    Published
  215. Sousa, Mário. "Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia". Experimental and Clinical Endocrinology & Diabetes (2009): http://dx.doi.org/10.1055/s-0029-1237363.
    10.1055/s-0029-1237363
  216. Rivera, I; Pinheiro, A; Faustino, I; Silva, MJ; Sá, Rosália; Sousa, Mário; Barros, Alberto; Tavares de Almeida, I. "Human Testis-specific PDHA2 gene: demethylation status of a CpG island in the open reading frame correlates with transcriptional activity.". Molecular Genetics and Metabolism 98 1-2 (2009): 5.
    Published • https://doi.org/10.1016/j.ymgme.2009.07.004
  217. Sousa, Mário. "Ultrastructure and molecular cytogenetics of human metaphase II oocytes with granular vacuoles". Microscopy and Microanalysis (2009): http://dx.doi.org/10.1017/s1431927609990614.
    10.1017/s1431927609990614
  218. Sousa, Mário. "Copper exposure failed to induce caspase-3 activation in gills of the teleost fish, Oreochromis niloticus". Microscopy and Microanalysis (2009): http://dx.doi.org/10.1017/s1431927609990602.
    10.1017/s1431927609990602
  219. Pinto, F.; Oliveira, C.; Cardoso, M.F.; Teixeira-da-Silva, J.; Silva, J.; Sousa, M.; Barros, A.. "Impact of GnRH ovarian stimulation protocols on intracytoplasmic sperm injection outcomes". Reproductive Biology and Endocrinology 7 (2009): http://www.scopus.com/inward/record.url?eid=2-s2.0-61349111489&partnerID=MN8TOARS.
    10.1186/1477-7827-7-5
  220. Cavaco, J.E.B.; Laurentino, S.S.; Barros, A.; Sousa, M.; Socorro, S.. "Estrogen receptors a and ß in human testis: Both isoforms are expressed". Systems Biology in Reproductive Medicine 55 4 (2009): 137-144. http://www.scopus.com/inward/record.url?eid=2-s2.0-72949111982&partnerID=MN8TOARS.
    10.3109/19396360902855733
  221. Oliveira, P.F.; Sousa, M.; Barros, A.; Moura, T.; Rebelo Da Costa, A.. "Membrane transporters and cytoplasmatic pH regulation on bovine Sertoli cells". Journal of Membrane Biology 227 1 (2009): 49-55. http://www.scopus.com/inward/record.url?eid=2-s2.0-58149183704&partnerID=MN8TOARS.
    10.1007/s00232-008-9139-z
  222. Oliveira, P.F.; Sousa, M.; Barros, A.; Moura, T.; da Costa, A.R.. "Intracellular pH regulation in human Sertoli cells: Role of membrane transporters". Reproduction 137 2 (2009): 353-359. http://www.scopus.com/inward/record.url?eid=2-s2.0-62449213668&partnerID=MN8TOARS.
    10.1530/REP-08-0363
  223. Monteiro, S.M.; Rocha, E.; Mancera, J.M.; Fontaínhas-Fernandes, A.; Sousa, M.. "A stereological study of copper toxicity in gills of Oreochromis niloticus". Ecotoxicology and Environmental Safety 72 1 (2009): 213-223. http://www.scopus.com/inward/record.url?eid=2-s2.0-54049146283&partnerID=MN8TOARS.
    10.1016/j.ecoenv.2008.02.008
  224. Monteiro, S.M.; dos Santos, N.M.S.; Calejo, M.; Fontainhas-Fernandes, A.; Sousa, M.. "Copper toxicity in gills of the teleost fish, Oreochromis niloticus: Effects in apoptosis induction and cell proliferation". Aquatic Toxicology 94 3 (2009): 219-228. http://www.scopus.com/inward/record.url?eid=2-s2.0-69249213355&partnerID=MN8TOARS.
    10.1016/j.aquatox.2009.07.008
  225. Dória, S.; Carvalho, F.; Ramalho, C.; Lima, V.; Francisco, T.; Machado, A.P.; Brandão, O.; et al. "An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths". European Journal of Obstetrics Gynecology and Reproductive Biology 147 2 (2009): 144-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-71849084531&partnerID=MN8TOARS.
    10.1016/j.ejogrb.2009.07.023
  226. Bettencourt, E.M.V.; Bettencourt, C.M.; Silva, J.N.C.E.; Ferreira, P.; de Matos, C.P.; Oliveira, E.; Romão, R.J.; Rocha, A.; Sousa, M.. "Ultrastructural characterization of fresh and cryopreserved in vivo produced ovine embryos". Theriogenology 71 6 (2009): 947-958. http://www.scopus.com/inward/record.url?eid=2-s2.0-61649099270&partnerID=MN8TOARS.
    10.1016/j.theriogenology.2008.10.019
  227. Almeida, C.; Sousa, M.; Barros, A.. "Phosphatidylserine translocation in human spermatozoa from impaired spermatogenesis". Reproductive BioMedicine Online 19 6 (2009): 770-777. http://www.scopus.com/inward/record.url?eid=2-s2.0-77449113329&partnerID=MN8TOARS.
    10.1016/j.rbmo.2009.10.002
  228. Introíni, G.O.; Cunha, A.L.D.; Sousa, M.M.D.S.L.; Recco-Pimentel, S.M.. "Spermatozoan ultrastructure and detection of nuclear acid phosphatase activity in spermatids of Anomalocardia brasiliana and Tivela mactroides (Bivalvia: Veneridae)". Nautilus 123 4 (2009): 293-302. http://www.scopus.com/inward/record.url?eid=2-s2.0-76749153512&partnerID=MN8TOARS.
  229. Costa, P.; Gonçalves, R.; Ferrás, C.; Fernandes, S.; Fernandes, A.T.; Sousa, M.; Barros, A.. "Identification of new breakpoints in AZFb and AZFc". Molecular Human Reproduction 14 4 (2008): 251-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-43049114970&partnerID=MN8TOARS.
    10.1093/molehr/gan014
  230. Sá, R.; Neves, R.; Fernandes, S.; Alves, C.; Carvalho, F.; Silva, J.; Cremades, N.; et al. "Cytological and expression studies and quantitative analysis of the temporal and stage-specific effects of follicle-stimulating hormone and testosterone during cocultures of the normal human seminiferous epithelium". Biology of Reproduction 79 5 (2008): 962-975. http://www.scopus.com/inward/record.url?eid=2-s2.0-55549094848&partnerID=MN8TOARS.
    10.1095/biolreprod.107.067546
  231. Monteiro, S.M.; Rocha, E.; Fontaínhas-Fernandes, A.; Sousa, M.. "Quantitative histopathology of Oreochromis niloticus gills after copper exposure". Journal of Fish Biology 73 6 (2008): 1376-1392. http://www.scopus.com/inward/record.url?eid=2-s2.0-53549087768&partnerID=MN8TOARS.
    10.1111/j.1095-8649.2008.02009.x
  232. Grangeia, A.; Barro-Soria, R.; Carvalho, F.; Damas, A.M.; Maurício, A.C.; Kunzelmann, K.; Barros, A.; Sousa, M.. "Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains". Cellular Physiology and Biochemistry 22 1-4 (2008): 79-92. http://www.scopus.com/inward/record.url?eid=2-s2.0-51149085670&partnerID=MN8TOARS.
    10.1159/000149785
  233. Marques, C.J.; Costa, P.; Vaz, B.; Carvalho, F.; Fernandes, S.; Barros, A.; Sousa, M.. "Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia". Molecular Human Reproduction 14 2 (2008): 67-73. http://www.scopus.com/inward/record.url?eid=2-s2.0-40049100483&partnerID=MN8TOARS.
    10.1093/molehr/gam093
  234. Luís, A.; Rocha, E.; Oliveira, E.; Silva, J.; Barros, A.; Sousa, M.. "Stereological analysis of mitochondria and smooth endoplasmic reticulum distribution in human oocytes at prophase i". Microscopy and Microanalysis 14 SUPPL. 3 (2008): 103-104. http://www.scopus.com/inward/record.url?eid=2-s2.0-53349161051&partnerID=MN8TOARS.
    10.1017/S1431927608089538
  235. Sousa, Mário; Sá, Rosália. "Sofrimento e Constrangimento na Reprodução". Revista Portuguesa de Psicanálise 28 2 (2008): 195-206. https://www.sppsicanalise.pt/produto/revista-portuguesa-de-psicanalise-vol-28-2/.
    Published
  236. Sá, Rosália; Carvalho, Filipa; Leite, Cristiana; Barros, Alberto; Sousa, Mário. "Genetic expression of mammalian stem cell markers in the human male germ line.". Human Reproduction 22 S1 (2007): I172-I172.
    Published
  237. Grangeia, Ana; Sá, Rosália; Carvalho, Filipa; Martin, J; Girodon, Emmanuelle; Ferraz, Luís; Barros, Alberto; Sousa, Mário. "Molecular Characterisation of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Congenital Absence of the Vas Deferens". Human Reproduction 22 S1 (2007): I205-I205.
    Published
  238. Viana, Paulo; Oliveira, Elsa; Alves, Ângela; Sá, Rosália; Silva, Joaquina; Barros, Alberto; Sousa, Mário. "Ultrastructural study of oocytes showing abnormal proliferation of the zona pellucida. A new cause of female sterility.". Human Reproduction 22 S1 (2007): I162.
    Published
  239. Almeida, C.; Sousa, M.; Viana, P.; Gonçalves, A.; Silva, J.; Ferras, L.; Barros, A.. "Increased rates of phosphatidylserine translocation on spermatid and spermatozoa from men with azoospermia | Aumento das taxas de translocação da fosfatidilserina nos espermatídeos e espermatozóides de homens com azoospermia". Revista Iberoamericana de Fertilidad y Reproduccion Humana 24 2 (2007): 101-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547599662&partnerID=MN8TOARS.
  240. Marques, C.J.; Vaz, B.; Costa, P.; Sousa, S.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "Heritable genomic imprinting defects in infertile patients with oligozoospermia and azoospermia | Alteração transmissível do imprinting genómico em pacientes inférteis por oligozoospermia e azoospermia". Arquivos de Medicina 21 2 (2007): http://www.scopus.com/inward/record.url?eid=2-s2.0-36348952655&partnerID=MN8TOARS.
  241. Grangeia, A.; Sá, R.; Carvalho, F.; Martin, J.; Girodon, E.; Silva, J.; Ferráz, L.; Barros, A.; Sousa, M.. "Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens". Genetics in Medicine 9 3 (2007): 163-172. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247140174&partnerID=MN8TOARS.
    10.1097/GIM.0b013e3180318aaf
  242. Ferrás, C.; Zhou, X.-l.; Sousa, M.; Lindblom, A.; Barros, A.. "DNA mismatch repair gene hMLH3 variants in meiotic arrest". Fertility and Sterility 88 6 (2007): 1681-1684. http://www.scopus.com/inward/record.url?eid=2-s2.0-36749054110&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2007.01.063
  243. Lopes, G.; Sousa, M.; Luvoni, G.C.; Rocha, A.. "Recovery rate, morphological quality and nuclear maturity of canine cumulus-oocyte complexes collected from anestrous or diestrous bitches of different ages". Theriogenology 68 6 (2007): 821-825. http://www.scopus.com/inward/record.url?eid=2-s2.0-34548240689&partnerID=MN8TOARS.
    10.1016/j.theriogenology.2007.06.011
  244. Sá, Rosália; Cremades, Nieves; Silva, Joaquina; Oliveira, Cristiano; Barros, Alberto; Sousa, Mário. "Oocyte morphological quality. Importance for diagnosis, prognosis and therapeutical decisions". ASEBIR 12 (2007): 60-66.
    Published
  245. Sá, Rosália; Sousa, Mário. "Legislação Portuguesa sobre Procriação Medicamente Assistida.". Sexualidade & Planeamento Familiar, APF Associação para o Planeamento da Família 44/45 (2007): 19-26. http://www.apf.pt/sites/default/files/media/2016/revista_44_45.pdf.
    Published
  246. Sousa, Mário; Sá, Rosália. "Sobre a infertilidade". Rua Larga, Revista da Reitoria da Universidade do Porto 13 (2006): 40-41. https://www.uc.pt/rualarga/revistas/arquivo_revistas/rualarga13.
    Published
  247. Sousa, Mário; Sá, Rosália. "Células Estaminais Humanas". Biologia & Sociedade 2 (2006): 14-15. http://ordembiologos.pt/wp-content/uploads/2015/11/BiologiaSociedade_02.pdf.
    Published
  248. Nuno De Magalhães Oliveira, V.; Sousa, M.; Figueiredo, H.; Costa, L.; Amaral, J.; Pereira, M.; Ferraz, L.. "Immotile cilia syndrome. Diagnostic and therapeutic approach of a rare infertility case | Síndrome dos cílios imóveis. Abordagem diagnóstica e terapêutica de um caso raro de infertilidade". Revista Internacional de Andrologia 4 1 (2006): 35-38. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547913043&partnerID=MN8TOARS.
    10.1016/S1698-031X(06)73565-8
  249. Sá, R.; Sousa, M.; Cremades, N.; Alves, C.; Pinho, M.J.; Silva, J.; Barros, A.. "Haploidization | Haploidização". Revista Internacional de Andrologia 4 1 (2006): 9-24. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547903843&partnerID=MN8TOARS.
    10.1016/S1698-031X(06)73562-2
  250. Ribas, R.; Oback, B.; Ritchie, W.; Chebotareva, T.; Taylor, J.; Maurício, A.C.; Sousa, M.; Wilmut, I.. "Modifications to improve the efficiency of zona-free mouse nuclear transfer". Cloning and Stem Cells 8 1 (2006): 10-15. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645774188&partnerID=MN8TOARS.
    10.1089/clo.2006.8.10
  251. Fernandes, A.T.; Fernandes, S.; Gonçalves, R.; Sá, R.; Costa, P.; Rosa, A.; Ferrás, C.; et al. "DAZ gene copies: Evidence of Y chromosome evolution". Molecular Human Reproduction 12 8 (2006): 519-523. http://www.scopus.com/inward/record.url?eid=2-s2.0-33747883864&partnerID=MN8TOARS.
    10.1093/molehr/gal051
  252. Rocha, A.; Oliveira, E.; Vilhena, M.J.; Diaz, J.; Sousa, M.. "A novel apical midpiece defect in the spermatozoa of a bull without an apparent decrease in motility and fertility. A case study". Theriogenology 66 4 (2006): 913-922. http://www.scopus.com/inward/record.url?eid=2-s2.0-33747081653&partnerID=MN8TOARS.
    10.1016/j.theriogenology.2006.02.032
  253. Oliveira, H.; Loureiro, J.; Filipe, L.; Santos, C.; Ramalho-Santos, J.; Sousa, M.; Pereira, M.d.L.. "Flow cytometry evaluation of lead and cadmium effects on mouse spermatogenesis". Reproductive Toxicology 22 3 (2006): 529-535. http://www.scopus.com/inward/record.url?eid=2-s2.0-33748415574&partnerID=MN8TOARS.
    10.1016/j.reprotox.2006.03.009
  254. Ribas, R.C.; Taylor, J.E.; McCorquodale, C.; Maurício, A.C.; Sousa, M.; Wilmut, I.. "Effect of zona pellucida removal on DNA methylation in early mouse embryos". Biology of Reproduction 74 2 (2006): 307-313. http://www.scopus.com/inward/record.url?eid=2-s2.0-31044440281&partnerID=MN8TOARS.
    10.1095/biolreprod.105.046284
  255. Sá, Rosália; Sousa, Mário. "Banco de Células do Cordão: aspectos éticos, legais e científicos.". ABO : Revista de Medicina Transfusional 26 supl (2006): 34-35.
    Published
  256. F Carvalho; M Sousa; J Silva; A Barros. "O¿36 Update on PGD in Portugal for familial amyloidotic polyneuropathy". Reproductive BioMedicine Online 10 (2005): 12-12. http://dx.doi.org/10.1016/s1472-6483(11)60257-5.
    10.1016/s1472-6483(11)60257-5
  257. Sá, R.; Sousa, M.; Barros, A.. "Intersex. I. Genes involved in male sex determination | Intersexo. I - Genes envolvidos na determinação do sexo masculino". Nascer e Crescer 14 4 (2005): 292-299. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645216707&partnerID=MN8TOARS.
  258. Calado, A.M.; Rocha, E.; Colaço, A.; Sousa, M.. "Comparative stereological study of cumulus-oocyte complexes aspirated from follicles during the estrous cycle in bovine | Estudo estereológico comparative de complexes cumulus-ovócito aspirados de folículos durante o ciclo estral em bovinos". Arquivo Brasileiro de Medicina Veterinaria e Zootecnia 57 4 (2005): 465-475. http://www.scopus.com/inward/record.url?eid=2-s2.0-31544433939&partnerID=MN8TOARS.
    10.1590/s0102-09352005000400007
  259. Ferrás, C.; Fernandes, S.; Sousa, M.; Barros, A.. "Possible involvement of MLH3, MLH1 & MSH4 genes in prophase I progression in human spermatogenesis | Possível envolvimento dos genes MLH3, MLH1 e MSH4 na Progressão da Profase I na Esperatogénese Humana". Revista Iberoamericana de Fertilidad y Reproduccion Humana 22 1 (2005): 67-74. http://www.scopus.com/inward/record.url?eid=2-s2.0-19644369439&partnerID=MN8TOARS.
  260. Almeida, C.; Cardoso, M.F.; Sousa, M.; Viana, P.; Gonçalves, A.; Silva, J.; Barros, A.. "Quantitative study of caspase-3 activity in semen and after swim-up preparation in relation to sperm quality". Human Reproduction 20 5 (2005): 1307-1313. http://www.scopus.com/inward/record.url?eid=2-s2.0-20344392659&partnerID=MN8TOARS.
    10.1093/humrep/deh727
  261. Ribas, R.; Oback, B.; Ritchie, W.; Chebotareva, T.; Ferrier, P.; Clarke, C.; Taylor, J.; et al. "Development of a zona-free method of nuclear transfer in the mouse". Cloning and Stem Cells 7 2 (2005): 126-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-21744439967&partnerID=MN8TOARS.
    10.1089/clo.2005.7.126
  262. Pinho, M.J.; Neves, R.; Costa, P.; Ferrás, C.; Sousa, M.; Alves, C.; Almeida, C.; et al. "Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: A case report". Human Reproduction 20 3 (2005): 689-696. http://www.scopus.com/inward/record.url?eid=2-s2.0-20144384245&partnerID=MN8TOARS.
    10.1093/humrep/deh653
  263. Marques, C.J.; Fernandes, S.; Carvalho, F.; Silva, J.; Sousa, M.; Barros, A.. "Study of genomic imprinting in spermatozoids from patients with oligozoospermia | Estudo do imprinting genómico em espermatozóides de pacientes com oligozoospermia". Revista Internacional de Andrologia 3 3 (2005): 101-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-77949838778&partnerID=MN8TOARS.
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  264. Grangeia, A.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens". Fertility and Sterility 83 2 (2005): 448-451. http://www.scopus.com/inward/record.url?eid=2-s2.0-13544251608&partnerID=MN8TOARS.
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  331. Sousa, M.; Tesarik, J.. "Fertiliza1tion and early embryology: Ultrastructural analysis of fertilization failure after intracytoplasmic sperm injection". Human Reproduction 9 12 (1994): 2374-2380. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028566995&partnerID=MN8TOARS.
    10.1093/oxfordjournals.humrep.a138455
  332. Sousa, M.; Oliveira, E.. "Ultrastructural and cytochemical study of spermatogenesis in Donax trunculus (Mollusca, Bivalvia)". J.SUBMICROSC.CYTOL.PATHOL. 26 3 (1994): 305-311. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028150340&partnerID=MN8TOARS.
  333. Sousa, M.; Oliveira, E.. "An ultrastructural study of spermatogenesis in Helcion pellucidus (Gastropoda, Prosobranchia)". International journal of invertebrate reproduction and development 26 2 (1994): 119-126. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028039464&partnerID=MN8TOARS.
  334. Sousa, M.; Carvalheiro, J.. "A cytochemical study of the nucleolus and nucleolus-related structures during human spermatogenesis". Anatomy and Embryology 190 5 (1994): 479-487. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028072981&partnerID=MN8TOARS.
    10.1007/BF00235495
  335. Sousa M; Pinto R; Moradas-Ferreira P; Azevedo C. "Histochemical Studies of Jelly Coat of Marthasterias glacialis (Echinodermata, Asteroidea) Oocytes.". The Biological bulletin (1993): https://doi.org/10.2307/1542001.
    10.2307/1542001
  336. Sousa M; C. Azevedo. "Ultrastructural Histochemistry of Marthasterias glacialis (Echinodermata, Asteroidea) Gametes Before and After Fertilization.". The Biological bulletin (1993): https://doi.org/10.2307/1542002.
    10.2307/1542002
  337. Fernandes, P.A.; Moradas-Ferreira, P.; Sousa, M.. "Flocculation of Kluyveromyces marxianus is induced by a temperature upshift". Yeast 9 8 (1993): 859-866. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027244592&partnerID=MN8TOARS.
    10.1002/yea.320090806
  338. Sousa, M.; Moradas-Ferreira, P.; Azevedo, C.. "Presence of a trypsin-like protease in starfish sperm acrosome". Journal of Experimental Zoology 261 3 (1992): 349-354. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026831439&partnerID=MN8TOARS.
    10.1002/jez.1402610314
  339. Sousa, M.; Azevedo, C.. "Alkaline phosphatase and peroxidase activities in starfish cortical vesicles befor and after cortical reaction". Journal of Submicroscopic Cytology and Pathology 22 1 (1990): 97-102. http://www.scopus.com/inward/record.url?eid=2-s2.0-0025266083&partnerID=MN8TOARS.
  340. Sousa, M.; Azevedo, C.. "Silver staining of spermatogenesis in the starfish marthasterias glacialis". Invertebrate Reproduction and Development 15 2 (1989): 105-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-84948639322&partnerID=MN8TOARS.
    10.1080/07924259.1989.9672030
  341. Sousa, M.; Azevedo, C.. "Ultrastructural Localization of Calcium in the Acrosome and Jelly Coat of Starfish Gametes: Asteroidea/sperm acrosome/oocyte jelly/calcium". Development, Growth & Differentiation 31 3 (1989): 227-232. http://www.scopus.com/inward/record.url?eid=2-s2.0-84985801097&partnerID=MN8TOARS.
    10.1111/j.1440-169X.1989.00227.x
  342. Sousa, M.; Azevedo, C.. "Starfish sperm-oocyte jelly binding triggers functional changes in cortical granules - A study using acid phosphatase and ruthenium red ultrastructural histochemistry". Histochemistry 90 5 (1989): 353-357. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024543517&partnerID=MN8TOARS.
    10.1007/BF00508312
  343. Sousa, M.; Corral, L.; Azevedo, C.. "Ultrastuctural and cytochemical study of spermatogenesis in Scrobicularia plana (Mollusca, Bivalvia)". Gamete Research 24 4 (1989): 393-401. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024830751&partnerID=MN8TOARS.
    10.1002/mrd.1120240406
  344. Sousa, M.; Azevedo, C.. "Ultrastructure and silver-staining analysis of spermatogenesis in the sea urchin Paracentrotus lividus (Echinodermata, Echinoidea)". Journal of Morphology 195 2 (1988): 177-188. http://www.scopus.com/inward/record.url?eid=2-s2.0-84935999044&partnerID=MN8TOARS.
    10.1002/jmor.1051950205
  345. Sousa, M.; Azevedo, C.. "Comparative silver staining analysis on spermatozoa of various invertebrate species". International Journal of Invertebrate Reproduction and Development 13 1 (1988): 1-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-0002515569&partnerID=MN8TOARS.
    10.1080/01688170.1988.10510337
  346. Sousa, M.; Azevedo, C.. "Fine structural study of the acrosome formation in the starfish Marthasterias glacialis (Echinodermata, Asteroidea)". Tissue and Cell 20 4 (1988): 621-628. http://www.scopus.com/inward/record.url?eid=2-s2.0-45549114141&partnerID=MN8TOARS.
    10.1016/0040-8166(88)90063-8
  347. Sousa, M.; Azevedo, C.. "Presence of ATPase and alkaline phosphatase activities in the starfish sperm acrosome". Cell Biology International Reports 12 12 (1988): 1049-1054. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024224138&partnerID=MN8TOARS.
    10.1016/0309-1651(88)90029-X
  348. Sousa, M.; Azevedo, C.. "Ultrastructural and histochemical observations of the cortical reaction in Marthasterias glacialis (Echinodermata, Asteroidea)". Journal of Submicroscopic Cytology 20 3 (1988): 629-633. http://www.scopus.com/inward/record.url?eid=2-s2.0-0023683908&partnerID=MN8TOARS.
  349. Sousa, M.; Moradas Ferreira, P.; Amorim, A.; Azevedo, C.. "Starfish acrosomal acid phosphatase: a cytochemical and biochemical study". Biology of the Cell 63 1 (1988): 101-104. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024192996&partnerID=MN8TOARS.
    10.1111/j.1768-322X.1988.tb00746.x
  350. Sousa M; Azevedo C. "Silver staining of the cortical reaction in oocytes of Marthasterias glacialis (Echinodermata, Asteroidea)". Canadian Journal of Zoology (1987):
    10.1139/z87-395
  351. Sousa M; Azevedo C. "Cytochemical study on the spermatozoon and at early fertilization in Marthasterias glacialis (Echinodermata, Asteroidea)". Biology of the Cell (1986):
  352. Sousa, M.; Azevedo, C.. "Acrosomal reaction and early events at fertilization in Marthasterias glacialis (Echinodermata: Asteroidea)". Gamete Research 11 2 (1985): 157-167. http://www.scopus.com/inward/record.url?eid=2-s2.0-0022000375&partnerID=MN8TOARS.
    10.1002/mrd.1120110206
  353. Sousa, M.; Azevedo, C.. "Fine structure of the spermatozoon of marthasterias glacialis (linnaeus) (echinodermata; asteroidea), with special reference to acrosomal morphology". International Journal of Invertebrate Reproduction 6 3 (1983): 171-180. http://www.scopus.com/inward/record.url?eid=2-s2.0-84910345586&partnerID=MN8TOARS.
    10.1080/01651269.1983.10510039
Magazine article
  1. Sá, Rosália; Sousa, Mário; Barros, Alberto. "Alterações do espermograma: infertilidade masculina", Mãe me quer, 2017, https://www.maemequer.pt/engravidar/fertilidade/masculina/alteracoes-do-espermograma/.
Newspaper article
  1. Sousa, Mário. "Homozygoty mapping using whole-exome sequencing: a valuable approach for pathogenic variant identification in genetic diseases", 2017
    DOI: 10.5220/0006248502100216
Preprint
  1. Pereira RR; Carvalho V; Dias C; Barbosa T; Oliveira J; Alves Â; Oliveira E; Sá R; Sousa M. "Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertility". 2022. http://europepmc.org/abstract/PPR/PPR542794.
    10.21203/rs.3.rs-1971584/v1
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2020 31 research projects (13 as PI). Author/co-author 584 publications (496 International + 88 National), with 10992 citations, h index=50, and i10 index=191. Author/co-author 860 communications (299 International and 561 National). Participation in the discovery of new pathologic variants in infertile and Primary ciliary dyskinesia patients (12, in gene databases). Supervision/co-supervision 8 post-doctorate, 32 PhD and 46 MSc students. Member in 107 Scientific Juries. Member of one international patent (WIPO PCT/IB2018/055715)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2019 - 2019 The genetics of Primary Ciliary Dyskinesia: from the flagellum to the cilium
Supervisor
Bioengenharia (PhD)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2017 - 2017 Fatores preditivos de recém-nascido em ciclos de microinjeção intracitoplasmática com espermatozóides do ejaculado
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 - 2017 Is Genistein a Threat to Male Reproductive Potential?
Co-supervisor
Biologia Molecular e Celular (Master)
Universidade de Aveiro, Portugal
2015 - 2015 Microdeleções no cromossoma Y em azoospermia não obstrutiva e oligozoospermia severa
Supervisor
Biologia Molecular e Celular (Master)
Universidade de Aveiro, Portugal
2014 - 2014 Mutation analysis of genes involved in sperm motility: A study on patients with total sperm immotility
Supervisor
Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2013 - 2013 Estudo Epidemiológico da Infertilidade - Prevalência e Importância Médico-Legal
Supervisor
Medicina Legal (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2001 - 2001 Função das Oscilações de Cálcio Induzidas pelo Sperm Factor no Desenvolvimento Embrionário e na Apoptose
Co-supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2001 - 2001 Caracterização Bioquímica, Imunológica e Molecular de Diferentes Tipos Celulares do Epitélio Branquial de Tilápia, Oreochromis Niloticus, Após Exposição Aguda e Crónica ao Sulfato de Cobre
Co-supervisor
Ciências Biológicas (PhD)
Universidade de Trás-os-Montes e Alto Douro, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2019/11/14 Member of the Scientific Jury in Academic Proofs: 92 several (PhD)

Mentoring / Tutoring

Topic Student name
1993/01/01 - 2020/02/20 Postgraduate supervision/cosupervision: Master of Science: 39 Postgraduate supervision/cosupervision: Doctorat: 30 Postgraduate supervision/cosupervision: Posdoctorat: 8 Postgraduate supervision/cosupervision: Investigators: 1 several
Distinctions

Award

2020 Author/co-author in 66 Prizes and Nominations