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Bárbara Marques completed the MSc in Genética Molecular e Biomedicina in 2012 by Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Portugal, and the BSc in Biology in 1993 by Faculdade de Ciências, Universidade de Lisboa. Works in the Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge - Lisboa since 1994, in the area of Medical and Health Sciences with emphasis on Basic Medicine - Human Genetics. Is author of one and co-author of 25 papers published in scientific journals. Is also author and co-author of numerous posters presented in international and national conferences, some with abstracts published. Has participated as team member or collaborator in 11 scientific projects. Has the certification of Clinical Laboratory Geneticist from the Europeen Society of Human Genetics and the Title in Human Genetics from Ordem dos Biólogos.
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Identification

Personal identification

Full name
Bárbara Sofia Nunes Lopes Marques

Citation names

  • Marques, Barbara
  • Marques, B.
  • Barbara Marques
  • B. Marques

Author identifiers

Ciência ID
581A-57C7-6B58
ORCID iD
0000-0002-4392-4858

Email addresses

  • barbara.marques@insa.min-saude.pt (Professional)

Addresses

  • Av. Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Professional)

Websites

  • http://www.insa.min-saude.pt/ (Professional)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
English Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2)
Portuguese (Mother tongue)
Education
Degree Classification
2011 - 2012
Concluded
 Mestrado em Genética Molecular e Biomedicina (Mestrado)
Major in Genética Humana
Universidade Nova de Lisboa, Portugal
 18
2007
Concluded
 Especialista em Genética Humana (Título de especialista)
Ordem dos Biólogos, Portugal
1997
Concluded
 Grau de Especialista em Genética (Título de especialista)
Administração Central dos Sistemas de Saúde (ACSS) , Portugal
1989 - 1993
Concluded
 Biologia (Licenciatura)
Major in Cientifico
Universidade de Lisboa Faculdade de Ciências, Portugal
 15
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2004 - 2015 Assistant (Polytechnic Teacher) Escola Superior de Saúde Egas Moniz, Portugal

Other Careers

Category
Host institution 		Employer
2001/05/01 - Current Assistente Principal (Técnico Superior de Saúde) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1994 - 2001 Assistente (Técnico Superior de Saúde) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Others

Category
Host institution 		Employer
2010/05/12 - 2010/05/25 Internship - Luso-Hungarian Cooperation "Project Congenital Anomalies Associated to Chromosome Rearrangements and Genomic Disorders" Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Paediatric Department, University of Smmelweis, Hungary
(...)
2008/03/14 - 2008/03/28 Internship - Luso-Hungarian Cooperation Project "Characterization of disease-associated chromosomal rearrangements" Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Paediatric Department, University of Smmelweis, Hungary
2001/11/05 - 2001/12/01 Internship in chromossomal Comparative Genomic Hybridization (cCGH) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Medical Genetic Department, University Hospital of Ghent, Belgium
1998/06/15 - 1998/06/19 Internship - Citogenética Molecular e Curso Pratico de hibridação de DNA in situ Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Laboratório de Citogenética Molecular, Istituto di Genética, Universidade de Bari, Italy
1998/06/15 - 1998/06/19 Internship in Molecular Cytogenetics Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Laboratório de Citogenética Molecular, Istituto di Genética, Universidade de Bari, Italy
Projects

Contract

Designation Funders
2013 - Current Next-Gen Cytogenetics Enters Clinical Care and Annotates the Human Genome.
HMSP-ICT/0016/2013
Other
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ), Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010 - Current Patogénese molecular de “doenças de cis-rupção” associadas a translocações cromossómicas
PTDC/SAU-GMG/118140/2010
Other
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ), Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2008 - Current Congenital anomalies associated to chromosome rearrangements and genomic disorders
OMFB-00748/2008; registration Nº PT 08/2007
Other
Fundação para a Ciência e a Tecnologia
Concluded
2006 - Current Characterization of disease-associated chromosomal rearrangements
GRICES 01978/2006
Other
Fundação para a Ciência e a Tecnologia
Concluded
2004 - Current Patogénese da trombicitémia essencial: Identificação e caracterização de alterações moleculares nos genes NFATC2, ATP9A E SALL4
POCTI/SAL-OBS/59609/2004
Other
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ), Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2003 - Current Identificação e caracterização de genes envolvidos em três novas translocações cromossómicas - t(5;12)(q1?2;p1?3), t(8;12)(q13;p13) e t(12;15)(p13;q22) – associadas a doenças hematológicas malignas
NRS/LPCC–Terry Fox 2001/2003
Other
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ), Portugal
 Liga Portuguesa Contra o Cancro
Concluded
2002 - Current Identificação, clonagem e caracterização das regiões cromossómicas envolvidas em translocações
POCTI/38649/MGI/2002
Other
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ), Portugal
Concluded
1999 - Current Caracterização de efeitos mutagénicos da enzima poli(ADP-ribose) polimerase em ratinhos transgénicos
POCTI/2000/MGI/34270/99
Other
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1997 - Current Neuroblastoma. Avaliação dos parâmetros biológicos de prognóstico
165/97
Other
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Ministério da Saúde
Concluded
1996 - Current Patologia molecular de infertilidade masculina
Praxis XXI/PSAU/97/96
Other
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1995 - Current Caracterização molecular e citogenética de alterações genéticas em neuroblastomas e, em particular, o papel do cromossoma 17 no neuroblastoma
PRAXIS XXI PECS/SAL/258/95
Other
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference abstract
  1. S. Serafim; B. Marques; S. Pedro; A. R. Tarelho; C. Ferreira; L. Simao; C. Alves; et al. "Small deletion in the CREBBP gene detected in a fetus with short long bones, abducted thumbs and nuchal edema.". Paper presented in 54th European Society of Human Genetics (ESHG) Conference, 2021.
    In press
  2. Marques, Barbara; Simão, Laurentino; Serafim, Silvia; Ferreira, Cristina; Tarelho, Ana Rita; Alves, Cristina; Brito, Filomena; et al. "PRENATAL DIAGNOSIS OF CONGENITAL HEART DISEASE IN A FETUS WITH A 8p23.1 INTERSTITIAL DELETION". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), Virtual Conference, 2021.
    Published
  3. Marques, Barbara; Serafim, Serafim; Pedro, Sónia; Alves, Cristina; Ferreira, Cristina; Tarelho, Ana Rita; Peliano, Ricardo; et al. "When one CNV is not enough and array needs karyotype and to go FISHing". Paper presented in 53rd European Society of Human Genetics (ESHG) Conference, Virtual conference, 2020.
    Published
  4. Serafim, Silvia; Marques, Barbara; Pedro, Sónia; Alves, Cristina; Tarelho, Ana Rita; Simao, Laurentino; Furtado, José; et al. "Cleft palate and left hydronephrosis in a fetus with a non-contiguous 6,7 Mb gain and 2,1 Mb loss in chromosome 22: unfolding an atypical ring chromosome from array to karyotype". Paper presented in 3rd European Society of Human Genetics (ESHG) Conference, Virtual Conference, 2020.
    Published
  5. Serafim, Silvia; Marques, Barbara; Correia, Hildeberto. "Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis.". Paper presented in 12th European Cytogenomics Conference, Salzburg, 2019.
    Published
  6. Marques, Barbara; Serafim, Sílvia; Pedro, Sonia; Tarelho, A.R.; Ferreira, Cristina; Gonçalves, Rui; Correia, Hildeberto. "9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome.". Paper presented in 12th European Cytogenomics Conference, Salzburg, 2019.
    Published
  7. Marques, Barbara; Carvalho, I.; Freixo, J.; Marques, M.; Cardoso, M.; Fino, J.; Alves, C.; et al. "Detection of de novo structural chromosomal rearrangements with nucleotide level resolution for assessment of their clinical outcome in prenatal diagnosis". Paper presented in European Society of Human Genetics Conference 2019, Denmark, 2019.
    Published
  8. Ferreira, C.; Marques, Barbara; Pedro, S.; Serafim, S.; Amorim, M.; Correia, H.. "A 669Kb deletion in 17q23.2, encompassing TBX2 and TBX4 genes, in a girl with a moderate developmental delay without any other pertinent abnormality". Paper presented in European Human Genetics Conference 2017, 2018.
    Published
  9. Ferreira, Cristina; Tarelho, A.R.; Marques, Barbara; Serafim, Silvia; Pedro, Sónia; Ferreira, A; Correia, Hildeberto. "47,XY,+del(X)(q21.31)/46,XY mosaicism in prenatal diagnosis - case report of a rare event.". Paper presented in 22nd International Conference on Prenatal Diagonosis and Therapy, Antwerp, 2018.
    Published
  10. Brito, F.; Silva, M.; Alves, C.; Ferreira, C.; Serafim, S.; Simão, L.; Marques, Barbara; et al. "Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain prognosis.". Paper presented in European Society of Human Genetics Conference 2018, Milan, 2018.
    Published
  11. Marques, Barbara; Serafim, S.; Pedro, S.; Ferreira, C.; Simão, L.; Alves, C.; Viegas, M.; et al. "Incidental X Linked Findings A female fetus with a gain in the DMD gene". Paper presented in 11th European Cytogenetics Conference, Florence, 2017.
    Published
  12. Serafim, S.; Marques, Barbara; Ferreira, C.; Brito, F.; Silva, M.; Simão, L.; Alves, C.; et al. "RPS6KA3 duplication in a male child with severe intellectual disability.". Paper presented in 11th European Cytogenetics Conference, Florence, 2017.
    Published
  13. Pinto-Leite, R.; Souto, M.; Botelho, P.; Ferreira, F.; Marques, Barbara; Correia, H.; Moutinho, O.; Martins, M.. "A novel insertion from chromosome 18 to chromosome 15 with a 183Kb 18q deletion.". Paper presented in 11th European Cytogenetics Conference, Florence, 2017.
    Published
  14. Filomena Brito; Bárbara Marques; Sónia Pedro; Sílvia Serafim; Rui Gonçalves; João Freixo. "A 1.77 Mb deletion in 3p26.3 encompassing CNTN6 and CNTN4 genes: case report". Paper presented in European Human Genetics Conference 2016, Barcelona, 2016.
    Published
  15. Serafim, S.; Marques, Barbara; Pedro, S.; Brito, F.; Dupont, J.; Dias, P.; Moldovan, O.; et al. "The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?". Paper presented in European Human Genetics Conference 2016, Barcelona, 2016.
    Published
  16. Serafim, S.; Marques, Barbara; Brito, F.; Pedro, S.; Ferreira, C.; Ventura, C.; Gaspar, I.; Correia, H.. "Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?". Paper presented in 10th European Cytogenetics Conference, Strasbourg, 2015.
    Published
  17. Marques, Barbara; Brito, F.; Alves, C.; Pedro, S.; Ferreira, C.; Amorim, M.; Correia, H.. "Characterization of a rare analphoid supernumerary marker chromosome in mosaic.". Paper presented in 10th European Cytogenetics Conference, Strasbourg, 2015.
    Published
  18. Marques, Barbara; Cristina Ferreira; Catarina Ventura; Sónia Pedro; Diana Antunes; Luís Nunes; Hildeberto Correia. "16p13.11 microduplication: a case report". Paper presented in European Human Genetics Conference 2014, Milan, 2014.
    Published
  19. Mota Freitas, M.; Candeias, C.; Oliva Teles, N; Soares, G.,; Tkachenko, N.; Marques, Barbara; Correia, H.; Fonseca da Silva, M.L.. "A "de novo" inv dup del(6q) - a case report". Paper presented in 9th European Cytogenetics, Dublin, 2013.
  20. Candeias, C; Mota Freitas, M.; Magalhães, S.; Marques, Barbara; Correia, H.; Oliva Teles, N.; Fonseca da Silva, M.L.. "A de novo complex chromosome rearrangement (CCR) involving chromosome 5, 6 and 15". Paper presented in 9th European Cytogenetics, Dublin, 2013.
    Published
  21. Marques, Barbara; Ferreira, C.; Brito, F.; Alves, C.; Furtado, J.; Ventura, C.; Carvalho, L.; et al. "9q34.3 microdeletion by MLPA in a fetus with cardiac defects". Paper presented in 9th European Cytogenetics Conference., Dublin, 2013.
    Published
  22. Silva, M,; Geraldes, M.C; Ferreira, C.; Marques, Barbara; Furtado, J.,; Ventura, C.; Cohen, A.; Correia, H.. "Prenatal diagnosis of mosaic tetrasomy 18p.". Paper presented in 17th International Conference on Prenatal Diagnosis and Therapy, Lisbon, 2013.
    Published
  23. Ramos, L.C.; Jorge, P.; Marques, Barbara; Ávila, M.; Rendeiro, P.; Quelhas, M. D.; Melo, J.B.; Carreira, I.M.. "The Clinical Laboratory Genetics profession in Portugal". Paper presented in European Human Genetics Conference 2013, Paris, 2013.
    Published
  24. David, D.; Marques, Barbara; Malveiro, S.; Haltrich, I.; Fekete, G.. "Disruption of NUBPL due to balanced translocation [t(3;14)(q26.33;q14)] increases severity of a family-specific PGK1 mutation.". Paper presented in European Human Genetics Conference 2013, Paris, 2013.
    Published
  25. Oliva-Teles, N.; Ribeiro, M.M.; Marques, Barbara; Correia, H.; Aires-Pereira, J.; Dias, C.; Fortuna, A.. "Interstitial dup(6)(q22.3q24) characterized by cCGH resulting from familial inv ins(6)(p11.2q25.3q22.3): case report.". Paper presented in European Human Genetics Conference 2013, Paris, 2013.
  26. Oliva-Teles, N.; Pires, S.; Aguiar, J; Mota-Freitas, M.; Marques, Barbara; Correia, H.; Sales-Marques, J.; Fortuna, A.. "A case of de novo complex chromosomal abnormality involving a t(8;10) and an interstitial deletion 5q(q33.1¿q34) characterized by GTG banding, FISH and cCGH.". Paper presented in European Human Genetics Conference 2012, Nürnberg,, 2012.
    Published
  27. Marques, Barbara; Ferreira, C.; Araújo, C.; Vieira, L.; Martins, M.; Pinto, M.; Dias, C.; David, D.. "Tricho-rhino phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation.". Paper presented in 8th European Cytogenetics Conference, Porto, 2011.
    Published
  28. Ferreira, C.; Marques, Barbara; Alves, C.; Barbosa, M.; Fortuna, A.; Reis-Lima, M.; Correia, H.. "A rare case of Beckwith-Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin.". Paper presented in 8th European Cytogenetics Conference, Porto, 2011.
    Published
  29. David, D.; Santos, I.; Marques, Barbara; Correia, H.; Teixeira, F.. "A pathogenic breakpoint at 566.8 kb from the 3' end of the SATB2 leads to a 2q33.1 microdeletionlike phenotype.". Paper presented in 8th European Cytogenetics Conference, Porto, 2011.
    Published
  30. Pires, S.; Fonseca Silva, M.L; Rosa Pereira, A; Meireles, A.; Oliva Teles, N; Ribeiro, J.; Mota Freitas, M.; et al. "Prenatal diagnosis of a partial dup (16p) due to a rare recombinant resulting from a paternal intrachromosomal insertion.". Paper presented in "8th European Cytogenetics Conference" - European Cytogeneticists Association (E.C.A.) - Chromosome Res., Istanbul, 2011.
    Published
  31. Simão L.; Brito F.; Silva M.; Marques B.; Furtado J.; Ventura C.; Caetano P.; Dias I.; Correia H.. "Prenatal diagnosis of terminal 11q deletion.". Paper presented in "8th European Cytogenetics Conference" - European Cytogeneticists Association (E.C.A.) - Chromosome Res., Istambul, 2011.
    Published
  32. Alves C. ; Marques B.; Brito F.; Silva M.; Rodrigues R.; Duarte G.; Sousa A.B.; Bicho A.; Correia H.. "Complex chromosomal rearrangements (CCRs).". Paper presented in *8th European Cytogenetics Conference" - European Cytogeneticists Association (E.C.A.) - Chromosome Res., Istabul, 2011.
    Published
  33. Oliva Teles N.; Marques B.; Aguiar J.; Pinto M.R.; Correia H.; Fortuna A.. "P03.043 - Interstitial chromosome 6q23 deletion characterized by CGH in a patient with two de novo apparently balanced translocations, t(6;10) and t(7;11), and a paternal t(2;13).". Paper presented in European Human Genetics Conference. - European Journal of Human Genetics., Gothenburg, 2010.
    Published
  34. Oliva Teles N.; Candeias C.; Marques B.; Silva J.; Soares G.; Gonçalves S.; Correia H.. "P03.133 - Cytogenetic investigation of an intersticial deletion 4q de novo and Rieger anomaly: a case report.". Paper presented in European Human Genetics Conference. - European Journal of Human Genetics., Viena, 2009.
    Published
  35. Ávila M.; Silveira-Santos R.; Serafim S.; Sousa A.; Marques B.; Dupont J.; Medeira A.; Cordeiro I.. "Molecular cytogenetic and clinical characterization of a maternally inherited 15q26.3-qter deletion.". Paper presented in Seventh European Cytogenetics Conference - European Cytogeneticists Association (E.C.A.) - Chromosome Research, Stockholm, 2009.
    Published
  36. Almeida R.; Boieiro F.; Alves C.; Marques B.; Ferreira C.; Silva M.; Ventura C.; et al. "Cri-du-chat syndrome: newborn exhibiting 5p deletion and 5p deletion with an inverted duplication in mosaicism.". Paper presented in Seventh European Cytogenetics Conference - European Cytogeneticists Association (E.C.A.) - Chromosome Research, Stockholm, 2009.
    Published
  37. David D.; Marques B.; Pires C.; Vieira P.; Reis C.; Malveira S.; Corona-Rivera A.; Ferreira J.C.; van Bokhoven H.. "P01.155 - Characterization of two translocations-associated ectrodactyly related loci in distal 2q14.1 and proximal 2q14.2 and the corresponding candidate genes.". Paper presented in European Human Genetics Conference. - European Journal of Human Genetics., Barcelona, 2008.
    Published
  38. Carreira I.M.; Melo J.B.; Marques B; Mirante A.; Simão L.; Pires M.; Mendes C.; Matoso E.. "P1.95 - Isodicentric Y and Y marker chromosome in a female with up to 8 cell lines.". Paper presented in 6th European Cytogenetics Conference. Chromosome Research, Istanbul, 2007.
    Published
  39. Simão L.; Silva M.; Marques B.; Boieiro F.; Alves A.C.; Correia J.,; Martins L.; et al. "Avaliação de 20 anos de Diagnóstico Pré-Natal de Anomalias Cromossómicas em Casos com Restrição do Crescimento Intra-Uterino. 19(1) :3-34". Paper presented in VIII Reunião dos Núcleos de Diagnóstico Pré-Natal - Progresos en Diagnostico y Tratamiento Prenatal., 2007.
    Published
  40. Vieira .L; Vaz A; Matos P.; Nogueira M.; Marques B.; Ambrósio A.P.; Pereira A.M.; da Silva M.G.; Jordan P.. "O246 - A small deletion at 20q13.13 indicates NFATC2 as a candidate gene in essential thrombocythemia.". Paper presented in 12th Congress of the European Hematology Association. - Hematologica. The Hematology Journal, 2007.
    Published
  41. Marques B.; Boieiro F.; Silva M.; Simão L.; Almeida R.; Santos S.; Afonso S.; et al. "P1.122 - Identification of supernumerary marker chromosome in a newborn.". Paper presented in 5th European Cytogenetic Conference. Chromosome Research, Madrid, 2005.
    Published
  42. Vieira L.; Marques B.; Cavaleiro C.; Ambrósio A.P.; Jorge M.; Alaiz H.; Diamond J.; et al. "S79 - Assessment of ETV6 gene involvement by fluorescence in situ hybridization in three novel chromosome 12P rearrangements in haematological malignancies.". Paper presented in 9th Congress of the European Hematology Association. The Hematological Journal., 2004.
    Published
  43. Boieiro F.; Silva M.C.; Marques B.; Simão L.; Silva M.; Moreira I.; David D.; et al. "5.2 - Ring chromosome 13 mosaicism in a newborn with multiple malformations: Cytogenetic and molecular studies.". Paper presented in 4th European Cytogenetic Conference. Annales de Génétique, 2003.
    Published
  44. Marques B.; Sousa A.C.; Ambrósio P.; Jorge M.; Alaiz H.; Diamond J.; Pereira A.M.; et al. "P2.52 - Fluorescence in situ hybridization analysis of unusual chromosomal rearrangements in acute myeloid leukaemia involving the MLL gene.". Paper presented in 4th European Cytogenetic Conference. Annales de Génétique, 2003.
    Published
  45. Schindelhauer D.; Laner A.; Cattini S.; Christan S.; Ramalho A.; Marques B.; Beck S.; Penque D.; Amaral M.. "P134 - An engineering genomic CFTR construct is expressed and correctly spliced in the human lung sarcoma cell line HT1080.". Paper presented in 17th annual North American Cystic Fibrosis Conference. Paediatric Pulmonology, 2003.
    Published
  46. Laner A.; Ramalho A.; Cattini S.; Christan S.; Marques B.; Beck S.; Amaral M.; Schindelhauer D.. "PAC based engineering and expression of genomic CFTR-GFP fusion gene.". Paper presented in 25th Congress European Cystic Fibrosis Society. Journal of Cystic Fibrosis, 2002.
    Published
  47. Schindelhauer D.; Laner A.; Christan S.; Cattini S.; Ramalho A.; Marques B.; Beck S.; Amaral M.. "An engeneering genomic CFTR-GFP fusion gene is expressed and correctly sliced on human artificial chromosomes.". Paper presented in 25th Congress European Cystic Fibrosis Society. Journal of Cystic Fibrosis, 2002.
    Published
  48. Ferreira J.C.; Nicolau M.; Marques B.; Borralho P.; Rendeio P.; Nunes C.; Torres F.; Lemos R.; Gonçalves J.. "An unusual type of XY sex reversal associated with the presence of female gonads.". Paper presented in American Society of Human Genetics. The American Journal of Human Genetics, 2002.
    Published
  49. Pinto Leite R. ; Martins M.; Candeias C.; Souto M.; Marques B.; Gonçalves J.; Ribeiro E.. "Genetic Counselling: a case report. A dilemma between science and ethics.". Paper presented in European Society of Genetics., Viena, 2002.
    Published
  50. Ambrósio A.P.; Marques B.; Nascimento R.; Pereira A.M.; Boavida M.G.; Vieira L.. "S113(2.387) - A novel translocation t(7;14)(q22;q32) in acute myeloid leukemia (M4) without involvement of IgH locus.". Paper presented in 3th European Cytogenetic Conference. Annales de Génétique., 2001.
    Published
  51. Silva M.; Marques B.; Boieiro F.; Gonçalves J.; Santos H.; Cordeiro I.; Medeira A.; Marques R.; Boavida M.G.. "P1.207 - Cytogenetic and molecular analysis of an abnormal Y chromosome in a boy with multiple malformations.". Paper presented in 3th European Cytogenetic Conference. Annales de Génétique, 2001.
    Published
  52. Vieira L.; Ambrósio A.P.; Marques B.; Nascimento R.; Pereira A.M.; Boavida M.G.. "PS6-126 - A novel translocation t(7;14)(q22;q32) in acute myeloid leukemia (M4) without involvement of the igh locus.". Paper presented in 27th meeting of the Federation of European Biochemical Societies. The FEBS Journal - European Journal of Biochemistry 268, Supp 1:163(PS6-126), 2001.
    Published
  53. Vieira L; Marques B.; Ambrósio P.; Reis A.B.; Júnior E.C.; Boavida M.G.. "P408 - TEL-MN1 fusion gene in a refractory anemia with excess of blasts.". Paper presented in 31th Annual Meeting of the European Society of Human Genetics. European Journal of Human Genetics, 1999.
    Published
  54. Sousa A.; Boieiro F.; Correia H.; Marques B.; Silva M.; Furtado J.M.; Pastilha P.; Marques R.; Boavida M.G.. "P701 - Partial trisomy 8q resulting from an interstitial duplication and pericentric inversion.". Paper presented in Cytogenetics and Cell Genetics, 1999.
    Published
  55. Boavida M.G.; Jorge G.; Alves C.; Marques B.; Ambrósio P.; Vieira L.. "P303 - Chromosome and molecular heterogeneity of leukaemia patients with Bcr-Abl.". Paper presented in Cytogenetics and Cell Genetics, 1997.
    Published
  56. Marques R.; Correia H.; Simões L.; Sousa A.; Boieiro F.; Ambrósio P.; Furtado J.M.; et al. "P163 - Nature and frequency of chromosome abnormalities in ultrasonographically abnormal pregnancies.". Paper presented in Cytogenetics and Cell Genetics, 1997.
    Published
  57. Boieiro F.; Sousa A.; Silva M.; Marques B.; Gonçalves J.; Vale F.; Marques R.; et al. "P200 - Genetic studies in sexual differentiation disorders.". Paper presented in Cytogenetics and Cell Genetics, 1997.
Conference poster
  1. Laurentino R. Simão; Bárbara S. Marques; Sílvia S. Serafim; Ana C. Alves; Sónia I. Pedro; Filomena T. Brito; Cristina M. Ferreira; et al. "REPORT OF A RARE 16Q23.1Q23.2 INTERSTITIAL DELETION IN A GIRL WITH MULTIPLE ANOMALIES.". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics, 2021.
  2. Laurentino R. Simão; Sílvia S. Serafim; Bárbara S. Marques; Sónia I. Pedro; Cristina M. Ferreira; Ana R. Tarelho; Filomena T. Brito; et al. "Cardiopatia complexa num feto com deleção terminal em 6q27.". Paper presented in Reunião APDPN, 2021.
  3. Silvia Serafim; Barbara Sofia Nunes Lopes Marques; Sonia Pedro; Filomena Brito; Laurentino Simao; Cristina Alves; Eunice Vieira; Teresa Tome; Hildeberto Correia. "Report of a rare 7p22.1p21.2 interstitial deletion in a newborn with a polymalformative syndrome.". Paper presented in 13th European Cytogenomics Conference, 2021.
  4. B. Marques; S. Serafim; S. Pedro; C. Ferreira; N. Silva; A. R. Tarelho; L. Simao; et al. "A rearrangement involving an inversion and a translocation leading to a complex sSMC: from array to karyotype.". Paper presented in 13th European Cytogenomics Conference, 2021.
  5. Maria Do Céu Silva; Ana Paula Ambrósio; Bárbara Marques; Catarina Ventura; Elizabeth Silva; Maria Do Céu Trindade; Hildeberto Odório. "Duplication of the long arm of chromosome 1 in primary myelofibrosis is a malignity factor.". Paper presented in 13th European Cytogenomics Conference, 2021.
  6. S. Serafim; B. Marques; S. Pedro; A. R. Tarelho; C. Ferreira; L. Simao; C. Alves; et al. "Invasive prenatal diagnosis during COVID-19 lockdown: Advanced maternal age and an unexpected consecutive interstitial gain in 10q26.2q26.3 and terminal loss in 10q26.3 detected by CMA". Paper presented in ISPD - 25th International Conference on Prenatal Diagnosis and Therapy. A virtual event, 2021.
  7. Marques B.; Ferreira C.; Ventura C; Pedro S.; Antunes D.; Nunes L.; Correia H.. "16p13.11 microduplication: a case report.". Paper presented in European Human Genetics Conference. European Journal of Human Genetics. 2013; 22 (Suppl 1): J11.28, 2013.
  8. Ambros IM; Tonini GP; Couturier J, K; Beiske K; Benard J; Boavida M; Bown N; et al. "Segmental Chromosome Aberrations and Ploidy in Localized Neuroblastomas without MYCN Amplification – Report from the SIOP Europe Neuroblastoma (SIOPEN) Group on the LNESG I Trial Advances in Neuroblastoma". Paper presented in Neuroblastoma Research Meeting, 2010.
Journal article
  1. Fino, Joana; Marques, Bárbara; Dong, Zirui; David, Dezso. "SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants". Frontiers in Genetics 12 (2021): http://dx.doi.org/10.3389/fgene.2021.757170.
    Open access • Published • 10.3389/fgene.2021.757170
  2. Bellini, Angela; Pötschger, Ulrike; Bernard, Virginie; Lapouble, Eve; Baulande, Sylvain; Ambros, Peter F.; Auger, Nathalie; et al. "Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1)". Journal of Clinical Oncology 39 30 (2021): 3377-3390. http://dx.doi.org/10.1200/jco.21.00086.
    Open access • Published • 10.1200/jco.21.00086
  3. Ambros, Inge M.; Tonini, Gian-Paolo; Pötschger, Ulrike; Gross, Nicole; Mosseri, Véronique; Beiske, Klaus; Berbegall, Ana P.; et al. "Age Dependency of the Prognostic Impact of Tumor Genomics in Localized Resectable MYCN-Nonamplified Neuroblastomas. Report From the SIOPEN Biology Group on the LNESG Trials and a COG Validation Group". Journal of Clinical Oncology 38 31 (2020): 3685-3697. http://dx.doi.org/10.1200/jco.18.02132.
    10.1200/jco.18.02132
  4. Ventura, Célia; Pereira, Joana F. S.; Matos, Paulo; Marques, Bárbara; Jordan, Peter; Sousa-Uva, António; Silva, Maria João. "Cytotoxicity and genotoxicity of MWCNT-7 and crocidolite: assessment in alveolar epithelial cells versus their coculture with monocyte-derived macrophages". Nanotoxicology (2020): 1-25. http://dx.doi.org/10.1080/17435390.2019.1695975.
    10.1080/17435390.2019.1695975
  5. Martins, J. M.; Fraga, M.; Miguens, J.; Tortosa, F.; Marques, B.; Sousa, A. D.. "Very late presentation of a disorder of sex development". Andrologia 49 10 (2017): e12831. http://dx.doi.org/10.1111/and.12831.
    10.1111/and.12831
  6. Marques, Bárbara; Ferreira, Cristina; Brito, Filomena; Pedro, Sónia; Alves, Cristina; Lourenço, Teresa; Amorim, Marta; Correia, Hildeberto. "Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35¿¿¿qter: a case report". Molecular Cytogenetics 9 1 (2016): http://dx.doi.org/10.1186/s13039-016-0295-z.
    10.1186/s13039-016-0295-z
  7. Pinheiro, Ana; Silva, Maria João; Pavlu-Pereira, Hana; Florindo, Cristina; Barroso, Madalena; Marques, Bárbara; Correia, Hildeberto; et al. "Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells". Gene 591 2 (2016): 417-424. http://dx.doi.org/10.1016/j.gene.2016.06.041.
    10.1016/j.gene.2016.06.041
  8. Silva, Marisa; Alves, Cristina; Pedro, Sónia; Marques, Bárbara; Ferreira, Cristina; Furtado, José; Martins, Ana Teresa; et al. "Trisomy 15 mosaicism: Challenges in prenatal diagnosis". American Journal of Medical Genetics Part A 167 11 (2015): 2847-2850. http://dx.doi.org/10.1002/ajmg.a.37229.
    10.1002/ajmg.a.37229
  9. Defferrari, R; Mazzocco, K; Ambros, I M; Ambros, P F; Bedwell, C; Beiske, K; Bénard, J; et al. "Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic tumours without MYCN amplification". British Journal of Cancer 112 2 (2014): 290-295. http://dx.doi.org/10.1038/bjc.2014.557.
    10.1038/bjc.2014.557
  10. David, Dezso; Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Soares, Gabriela; Dias, Cristina; Pinto, Maximina. "Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression". Human Genetics 132 11 (2013): 1287-1299. http://dx.doi.org/10.1007/s00439-013-1333-0.
    10.1007/s00439-013-1333-0
  11. Silva, Marisa; Caetano, Paula; Olival, Vanessa; Alves, Cristina; Simão, Laurentino; Ferreira, Cristina; Marques, Bárbara; et al. "Discordant chromosome placental mosaicism in a dichorionic twin pregnancy". American Journal of Medical Genetics Part A 161 6 (2013): 1498-1500. http://dx.doi.org/10.1002/ajmg.a.35902.
    10.1002/ajmg.a.35902
  12. Vieira, Luís; Vaz, Andreia; Matos, Paulo; Ambrósio, Ana Paula; Nogueira, Manuel; Marques, Bárbara; Pereira, Ana Marques; Jordan, Peter; da Silva, Maria Gomes. "Three-way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicatesNFATC2in dysregulation ofCSF2expression and megakaryocyte proliferation". Genes, Chromosomes and Cancer 51 12 (2012): 1093-1108. http://dx.doi.org/10.1002/gcc.21994.
    10.1002/gcc.21994
  13. Schleiermacher, G; Michon, J; Ribeiro, A; Pierron, G; Mosseri, V; Rubie, H; Munzer, C; et al. "Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study)". British Journal of Cancer 105 12 (2011): 1940-1948. http://dx.doi.org/10.1038/bjc.2011.472.
    10.1038/bjc.2011.472
  14. Ambros, I. M.; Brunner, B.; Aigner, G.; Bedwell, C.; Beiske, K.; Benard, J.; Bown, N.; et al. "A Multilocus Technique for Risk Evaluation of Patients with Neuroblastoma". Clinical Cancer Research 17 4 (2011): 792-804. http://dx.doi.org/10.1158/1078-0432.ccr-10-0830.
    10.1158/1078-0432.ccr-10-0830
  15. Joëlle Vermeulen; Katleen De Preter; Arlene Naranjo; Liesbeth Vercruysse; Nadine Van Roy; Jan Hellemans; Katrien Swerts; et al. "Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study". The Lancet Oncology (2009): http://dx.doi.org/10.1016/s1470-2045(09)70154-8.
    10.1016/s1470-2045(09)70154-8
  16. David, Dezso; Marques, Bárbara; Ferreira, Cristina; Vieira, Paula; Corona-Rivera, Alfredo; Ferreira, José Carlos; van Bokhoven, Hans. "Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5¿Mb on chromosome 2q14.1–q14.2". European Journal of Human Genetics 17 8 (2009): 1024-1033. http://dx.doi.org/10.1038/ejhg.2009.2.
    10.1038/ejhg.2009.2
  17. Michels, Evi; Vandesompele, Jo; De Preter, Katleen; Hoebeeck, Jasmien; Vermeulen, Joëlle; Schramm, Alexander; Molenaar, Jan J.; et al. "ArrayCGH-based classification of neuroblastoma into genomic subgroups". Genes, Chromosomes and Cancer 46 12 (2007): 1098-1108. http://dx.doi.org/10.1002/gcc.20496.
    10.1002/gcc.20496
  18. Vieira, Luís; Sousa, Ana C.; Matos, Paulo; Marques, Bárbara; Alaiz, Helena; Ribeiro, Maria J.; Braga, Paula; da Silva, Maria G.; Jordan, Peter. "Three-way translocation involvesMLL,MLLT3, and a novel cell cycle control gene,FLJ10374, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3)". Genes, Chromosomes and Cancer 45 5 (2006): 455-469. http://dx.doi.org/10.1002/gcc.20311.
    10.1002/gcc.20311
  19. Vieira, L.; Marques, B.; Cavaleiro, C.; Ambrósio, A.P.; Jorge, M.; Neto, A.; Costa, J.M.; Júnior, E.C.; Boavida, M.G.. "Molecular cytogenetic characterization of rearrangements involving 12p in leukemia". Cancer Genetics and Cytogenetics 157 2 (2005): 134-139. http://dx.doi.org/10.1016/j.cancergencyto.2004.08.013.
    10.1016/j.cancergencyto.2004.08.013
  20. David, Dezsö; Cardoso, Joana; Marques, B.árbara; Marques, Ramira; Silva, Eduardo D; Santos, Heloisa; Boavida, Maria G. "Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFß2 in the pathogenesis of Peters’ anomaly". Genomics 81 5 (2003): 489-503. http://dx.doi.org/10.1016/s0888-7543(03)00046-6.
    10.1016/s0888-7543(03)00046-6
  21. LÉNIA FERRÃO; Maria Lurdes Lopes; Catarina Limbert; Marques, Barbara; Filomena Boieiro; Marisa Silva; Ramira Marques; et al. "Screening for Y chromosome sequences in patients with Turner syndrome". Acta Med Port. 15 2 (2002): 89-100. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1922/1490.
    Open access • Published
  22. Vieira, Lui´s; Oliveira, Vanessa; Ambrósio, Ana P.; Marques, Bárbara; Pereira, Ana M.; Hagemeijer, Anne; Boavida, M.G.. "Translocation (8;17;15;21)(q22;q23;q15;q22) in acute myeloid leukemia (M2)". Cancer Genetics and Cytogenetics 128 2 (2001): 104-107. http://dx.doi.org/10.1016/s0165-4608(01)00404-6.
    10.1016/s0165-4608(01)00404-6
  23. Matos, Paulo; Skaug, Jennifer; Marques, Bárbara; Beck, Sebastian; Veríssimo, Fátima; Gespach, Christian; Boavida, Maria Guida; Scherer, Stephen W.; Jordan, Peter. "Small GTPase Rac1: Structure, Localization, and Expression of the Human Gene". Biochemical and Biophysical Research Communications 277 3 (2000): 741-751. http://dx.doi.org/10.1006/bbrc.2000.3743.
    10.1006/bbrc.2000.3743
  24. Vieira, Luis; Marques, Barbara; Ambrosio, Ana P.; Chumbo, Mauricio; Reis, Ana B.; Junior, Esmeraldina C.; Boavida, Maria G.. "TEL and MN1 Fusion In Myelodysplastic Syndrome: New Evidence For A Therapy-Related Event". British Journal of Haematology 110 1 (2000): 238-239. http://dx.doi.org/10.1046/j.1365-2141.2000.02072-4.x.
    10.1046/j.1365-2141.2000.02072-4.x
  25. Vieira, Lui´s; Alves, Ana C; Marques, Bárbara; Reis, Isabel; Jorge, Graça; Ambrósio, Ana P; de Sousa, Aida B; Boavida, Maria Guida. "Insertion of the 5' Part of BCR within the ABL Gene at 9q34 in a Philadelphia-negative Chronic Myeloid Leukemia". Cancer Genetics and Cytogenetics 114 1 (1999): 17-21. http://dx.doi.org/10.1016/s0165-4608(99)00036-9.
    10.1016/s0165-4608(99)00036-9
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2014/11/19 Cytogenetic Laboratory microarray experience: case reports presentation. Clube de Citogenética. 18ª Reunião da Sociedade Portuguesa de Genética Humana
(Portugal)
2014/03/06 Diagnóstico Pré-Natal: Presente e Futuro. VI congresso de Análises Clínicas e de Saúde Pública da ESALD/PCB.
(Carselo Branco, Portugal)
2014/03/05 Anomalias Cromossómicas: Síndromes e Estratégias de Diagnóstico. Unidade Local de saúde de Castelo Branco.
(Castelo Branco, Portugal)
2014 Citogenética convencional / Citogenómica. Serviço de Genética, Hospital D.ª Estefânia, Centro Hospitalar Lisboa Central.
(Lisboa, Portugal)
2013/11 The Clinical Laboratory Genetics profession in Portugal. 17ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2013/05/21 A Importância das Anomalias Cromossómicas no diagnóstico pré e pós-natal e no aconselhamento genético IV Simpósio de Ciências da Saúde.
Faculdade de Medicina, Universidade de Lisboa. (Lisboa, Portugal)
2012/10/08 Diagnóstico pré-natal citogenético: presente e futuro. O papel da genética humana na Saúde Pública.
Instituto Nacional de Saúde Doutor Ricardo Jorge (Lisboa, Portugal)
2012/10/08 Diagnóstico pré-natal citogenético: presente e futuro. O papel da genética humana na Saúde Pública.
Instituto Nacional de Saúde Doutor Ricardo Jorge – Lisboa. (Lisboa, Portugal)
2010 Marcadores ecográficos de anomalia fetal: a perspectiva do Laboratório de Citogenética. IX Jornadas Internacionais de DPN
(Lisboa, Portugal)
2009/11 Biópsia de Vilosidades Coriónicas - A experiência da Unidade de Citogenética do INSA, IP. Clube de Citogenética. 13ª Reunião da Sociedade Portuguesa de Genética Humana.
(Porto, Portugal)
2009/09/29 A Referência: função essencial do INSA – Atribuições, actividades e perspectivas futuras. Referência em Genética: European Neuroblastoma Group (SIOPEN). Dia do Instituto Nacional de Saúde Doutor Ricardo Jorge
Instituto Nacional de Saúde Doutor Ricardo Jorge (Lisboa, Portugal)
2009 Biópsias de vilosidades coriónicas versus Amniocentese: a realidade observada na unidade de citogenética do INSA. I.P. IX Reunião dos Núcleos/Associação Portuguesa de Diagnóstico Pré-natal.
(Faro, Portugal)
2008 Diagnóstico Pré-natal em Biópsias de Vilosidades Coriónicas: A Experiência da Unidade de Citogenética do INSA, IP. VIII Jornadas Internacionais de Diagnóstico Pré-natal.
(Porto, Portugal)
2007/11 ISCN 2005 – Alterações e Recomendações em Citogenética Molecular. Clube de Citogenética. 10ª Reunião da Sociedade Portuguesa de Genética Humana.
(Coimbra, Portugal)
2005 Diagnóstico pré-natal cromossómico de hidropisia fetal: experiência do Centro de Genética Humana do Instituto Nacional de Saúde Dr. Ricardo Jorge
(Viana do Castelo, Portugal)
2003/11 Molecular characterization of a familial translocation implicates disruption of histone deacetylase 9 and possible position effect on transforming growth factor Beta2 in the pathogenesis of Peter´s anomaly.
(Lisboa, Portugal)
2002/11 Dilemas em Citogenética.
(Porto, Portugal)
2001 FISH no Centro de Genética Humana. Jornadas de Investigação em Genética Molecular Humana. Centro de Investigação em Genética Molecular Humana.
(Lisboa, Portugal)
2000 Análise molecular, citogenética e de hibridação in situ em doenças mieloproliferativas crónicas: uma experiência de 7 anos. Reunião Anual da Sociedade Portuguesa de Hematologia.
(Póvoa de Varzim, Portugal)
1999 Mosaicismo sexual e cromossomas marcadores. V Jornadas Internacionais de Diagnóstico Pré-natal.
(Estoril, Portugal)
1998 Estudo de 54 casos com suspeita clínica de síndromes de microdelecção. 2ª Reunião da Sociedade Portuguesa de Genética Humana & 2º Simpósio Luso-Brasileiro de Genética Medica.
(Luso, Portugal)
1994 Diagnóstico Pré-natal rápido por hibridação in situ de amniócitos não cultivados.
(Gaia, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2022/02/28 - 2022/02/28 Dia Mundial das Doenças Raras: "Sensibilizar, conhecer e promover a mudança para 6% da população". (2022/02/28 - 2022/02/28)
Symposium (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021/02/28 - 2021/02/28 Dia Internacional das Doenças Raras - Somos muitos; Somos Raros; Somos fortes e estamos orgulhosos. (2021/02/28 - 2021/02/28)
Other (Co-organisor)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020/02/28 - 2020/02/28 Dia das Doenças Raras - Um outro olhar sobre as Raras: somos 300 milhões! Raro é ser muitos, raro é ser forte, raro é ter orgulho nisso! (2020/02/28 - 2020/02/28)
Meeting (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2014/11/19 - 2014/11/22 18ª Reunião da Sociedade Portuguesa de Genética Humana (2014/11/19 - 2014/11/22)
Conference (Member of the Organising Committee)
 Sociedade Portuguesa de Genética Humana, Portugal
2009/05/29 - 2009/05/30 International Workshop on Genomic Disorders, Disease-Associated Chromosome Rearrangements and Position Effect. (2009/05/29 - 2009/05/30)
Workshop (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2021/10/18 - 2021/10/19 Attend the congress and present scientific work.
Congress
 25th Annual Meeting of the Portuguese Society of Human Genetics
2021/08/28 - 2021/08/31 Attend the congress and present scientific work.
Conference
 54th European Society of Human Genetics (ESHG) Conference
2021/07/03 - 2021/07/05 Attend the congress and present scientific work. 13th European Cytogenomics Conference
ECA - European Cytogeneticists Association, France
2020/11/20 - 2020/11/20 Attend the meeting and present scientific work.
Meeting
 24th Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genética Humana, Portugal
2020/06/06 - 2020/06/09 Attend the conference
Conference
 53rd European Society of Human Genetics (ESHG) Conference
European Society of Human Genetics, Austria
2019/07/06 - 2019/07/09 Attend the meeting and present scientific work.
Conference
 12th European Cytogenomics Conference
European Cytogeneticists Association (E.C.A.) , France
2018/08/25 - 2018/09/02 Attend the course.
Other
 13th Goldrain Course in Clinical Cytogenetics - course on clinical cytogenetics
European Cytogeneticists Association (E.C.A.) , France
2017/07/01 - 2017/07/04 Attend the conference and present scientific work
Conference
 11th European Cytogenetics Conference
European Cytogeneticists Association (E.C.A.) , France
2016/05/21 - 2016/05/24 Attend the conference and present scientific work
Conference
 European Human Genetics Conference 2016
European Society of Human Genetics, Austria
2014/05/31 - 2014/06/03 Attend the conference and present scientific work
Conference
 European Human Genetics Conference 2014
European Society of Human Genetics, Austria
2014/04/22 - 2014/04/22 Attend the worksop
Workshop
 MLPA Workshop - MCR-Holland
MCR-Holland, Netherlands
2013/06/29 - 2013/07/02 Attend the conference and present scientific work
Conference
 9th European Cytogenetics Conference
European Cytogeneticists Association (E.C.A.) , France
2012/07/03 - 2012/07/04 Attend the workshop
Workshop
 Técnicas de Automatização em Citogenética, Instituto del Mar - Barcelona, Espanha
Leica Biosystems Imaging Inc, United States
2002/06/17 - 2002/06/21 Attend the course
Other
 Biological Sequence Analysis - The Gulbenkian training programme in bioinformatics
Instituto Gulbenkian de Ciência, Portugal
2002/05/03 - 2002/05/04 Attend the course
Other
 Fluorescence in situ hybridization (FISH) techniques
Hospital de Santa Maria, Portugal
2001/12/12 - 2001/12/15 Attend the course.
Other
 III Course in Molecular Cytogenetics and DNA Arrays
European School of Genetic Medicine - Bologna University Residential Center, Italy

Association member

Society Organization name Role
2015 - Current European Society of Human Genetics
2015 - Current Sociedade Portuguesa de Genética Humana
1998 - Current Ordem dos Biólogos

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2004 - 2015 Técnicas de Citogenética Licenciatura em Anatomia Patológica, Citológica e Tanatológica (Licenciatura) Escola Superior de Saúde Egas Moniz, Portugal
2014/05/15 - 2014/05/15 Citogenética - Tópico Citogenética Clínica/Citogenética Molecular Licenciatura em Biologia, ramos de Evolutiva e do Desenvolvimento e de Biologia Celular e Biotecnologia (Licenciatura) Universidade de Lisboa Faculdade de Ciências, Portugal
2014/01/30 - 2014/01/30 Seminários - Tópico Citogenética Clínica Mestrado em OncoBiologia (Mestrado) Universidade do Algarve, Portugal
2011/02/10 - 2014/01/30 Seminários - Tópico Citogenética Clínica Estudos Básicos de Medicina (Mestrado integrado) Universidade do Algarve, Portugal
2011/11/26 - 2012/11/10 Cell Imaging - Tópico Citogenética Molecular e microscopia de fluorescência (Curso de doutoramento (conclusão de unidades curriculares)) Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2009/06 - 2011/06 Hematologia Análises Clínicas (Mestrado) Universidade de Lisboa Faculdade de Farmácia, Portugal
2010/07/02 - 2010/07/02 Técnicas de Hibridação in situ fluorescente (FISH) – Aplicação ao estudo das neoplasias hematopoiéticas VI Curso de Pós-graduação e Actualização em Hematologia “Tumores do Tecido Hematopoiético: Morfologia, citologia e citogenética” (Curso de Especialização Tecnológica) Universidade de Lisboa Faculdade de Farmácia, Portugal
2008/04/14 - 2008/04/18 Técnicas de Diagnóstico Laboratorial Biologia Molecular Humana (Mestrado) Universidade de Lisboa Faculdade de Ciências, Portugal
2007/01/11 - 2007/01/15 Técnicas de Diagnóstico Laboratorial Biologia Molecular Humana (Mestrado) Universidade de Lisboa Faculdade de Ciências, Portugal
1999 - 2001 Elementos de Genética Humana Ciências Farmacêuticas (Licenciatura) Universidade de Lisboa Faculdade de Farmácia, Portugal
1997/09/08 - 1997/10/03 Genética do Cancro - Tópico Hibridação de DNA in situ Biologia Molecular Humana (Mestrado) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
1994/06/27 - 1994/07/08 Hibridação de DNA in situ Curso Internacional de Oncobiologia Molecular (Curso de Especialização Tecnológica) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal