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Dezso David, graduated in Veterinary Medicine at Technical University of Lisbon Portugal, in 1984, completed a post-graduation in Molecular Biology “International Training Course on Selected Topics of Modern Biology” at Biological Research Centre of the Hungarian Academy of Science, Szeged Hungary, in 1987, and obtained his PhD in Biomedical Sciences at University of Porto, in 1999. Since 1999, he is an Auxiliary Researcher at the Department of Huma Genetics, National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal. Until 2007, he was the PI of the Hemophilias and Thrombophilias Research Group aiming the identification of the molecular bases, pathogenesis, diagnosis as well as prevention of coagulopathies (hemophilia A, B, C and deficiencies of F7 and von Willebrand disease type II N), of hereditary thrombophilias (Protein S alpha, Protein C, SERPINC1 or AT3), of thrombotic risk factors and some X-liked pathologies, in Portugal. In early 80s, as graduate student, he performed cell fusion to study the premature chromosome condensation. Since that time, he was fascinated by this effect and in general by chromosomal rearrangements. Presently, they observed a somehow comparable mechanism leading to chromothripsis in probands with genomic disorders. Since the late 90’s his research has been focused on chromosomal rearrangements. Soon after the introduction of the concept of Genomic Disorders by James R Lupski, he formed the Genomic Disorders Research Group, that his leading since then. His main objective has been to capitalize naturally occurring chromosomal rearrangements as landmarks for disease causing genomic elements and for annotation of the human genome. He was also the first in Portugal to carry out mapping, positional cloning and characterization of candidate genes based on chromosomal translocations associated with human diseases and identification of new candidate genes involved in human development and its disorders. He participated as principal investigator, participant and research fellow in eight, three and one research projects, respectively. The most important of these has been the collaborative translational research project entitled Next-Gen Cytogenetics Enters Clinical Care and Annotates the Human Genome with the Harvard Medical School. Recently, he contributed to the: - introduced of whole genomic sequencing-based identification of balanced and unbalanced structural variant (SV) breakpoints; - HPO-based description of the clinical phenotypes; - development of workflows for sequencing data analysis and their clinical assessment; - implementation of Precision Genomic Medicine for Genomic Disorders; - introduction of this approach to prenatal diagnostics of structural variants; - introduced of topologically associated domains-based analysis of structural Variants; and of bioinformatics tools. A large number of genes, disrupted by breakpoints of structural variants or rearrangements, associated to a panoply of phenotypes, have been identified and characterized by his research group. Presently, he is committed to the implementation in clinical practice of a Precision Genomic Medicine-based approach for Genomic Disorders. He was the supervisor of about seven Master students, of several research fellows throughout his career and recently he contributed to teaching in master curses.
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Identification

Personal identification

Full name
Dezso David

Citation names

  • David, Dezso
  • David D
  • Dezso David
  • Dezso David

Author identifiers

Ciência ID
5215-5E69-C1C0

Websites

Knowledge fields

  • Natural sciences - Biological Sciences - Genetics and Heredity

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese Advanced (C1) Advanced (C1) Intermediate (B1) Advanced (C1)
Hungarian Advanced (C1) Advanced (C1) Intermediate (B1) Advanced (C1)
English Intermediate (B1) Intermediate (B1) Intermediate (B1) Intermediate (B1)
Education
Degree Classification
1999
Concluded
 N/A (Doutoramento)
Major in Ciências Biomédicas
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Haemophilias in the Portuguese population: molecular biology of factor VIII and factor IX deficiency. " (THESIS/DISSERTATION)
 Approved
1986
Concluded
 N/A (Postgraduate Certificate)
Medical University Szent-Györgyi Albert, Hungary
"Expression of hepato-specific functions in hepatoma cell lines." (THESIS/DISSERTATION)
 Summa cum laude
1984
Concluded
 Medicina Veterinária (Licenciatura)
Universidade de Lisboa Faculdade de Medicina Veterinária, Portugal
"NA" (THESIS/DISSERTATION)
 14
Affiliation

Science

Category
Host institution 		Employer
1999/11/24 - Current Auxiliary Researcher (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1993/01/04 - 1999/11/15 Research Assistant (Research) Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1989/09/01 - 1992/12/03 Research Trainee (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1986/06/01 - 1988/08/31 Research Trainee (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Others

Category
Host institution 		Employer
2018/06 - 2018/06 Short-term sabbatical Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Department of Obstetrics and Gynecology at Brigham and Women's Hospital (BWH), Harvard Medical School,, United States
2010/05 - 2010/05/25 Short-term sabbatical - Luso-Hungarian Cooperation "Project Congenital Anomalies Associated to Chromosome Rearrangements and Genomic Disorders" Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Paediatric Department, University of Smmelweis, Hungary, Hungary
2008/03/14 - 2008/03/28 Short-term sabbatical - Luso-Hungarian Cooperation Project "Characterization of disease-associated chromosomal rearrangements" Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Paediatric Department, University of Smmelweis, Hungary, Hungary
2004/10 - 2004/12 Sabbatical (3 months) Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Karolinska Institutet, Sweden
1996 - 1996 Short-term sabbatical (6 months) Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
MRC Clinical Research Center, Imperial College School of Medicine, United Kingdom
1993 - 1993 Short-term sabbatical - Implicação do Human Choroideremia like gene (hCHML) na patologia molecular da Retinite Pigmentar Autosómica Recessiva (arRP) (1 month) Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Institut fur Humangenetik, Medinizische Universitat zu Lübeck, Germany
1992 - 1992 Short-term sabbatical - Biologia Molecular da Retinite Pigmentar; Identificação e Caracterização da Base Molecular (six weeks) Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Institut fur Humangenetik, Medinizische Universitat zu Lübeck, Germany
1991 - 1991 Short-term sabbatical - Biologia Molecular da Hemofilia A; Identificação da Base Molecular (2 months) Haemostasis Research Group, Clinical Research Centre, United Kingdom
Clinical Research Centre, United Kingdom
1987 - 1988 Internship - Regulation of thyrosine-aminotransferase in hepatoma cell line variants (6 months) Szegedi Biológiai Kutatóközpont Magyar Tudományos Akadémia, Hungary
Centro de Pesquisa Biológica da Academia de Ciências da Hungria , Hungary
Projects

Contract

Designation Funders
2015/01/01 - 2018/06/30 Next-Gen Cytogenetics Enters Clinical Care and Annotates the Human Genome
info:eu-repo/grantAgreement/FCT/3599-PPCDT/135672/PT
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2015/01/01 - 2018/06/30 Citogenética de Próxima Geração Irrompe nos Cuidados de Saúde e Contribui para Anotação do Genoma Humano
HMSP-ICT/0016/2013
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Porto Faculdade de Medicina, Portugal

Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Universidade de Coimbra, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010/10/01 - 2015/09/30 Understanding the pathogenic mechanisms of “cis-ruption disorders due to balanced chromosome translocations
PTDC/SAU-GMG/118140/2010
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2012/03/01 - 2015/08/15 Joint Action: working for rare disease (EJA)
Agreement number 20112202
Researcher
Concluded
2009/01/01 - 2011/12/31 The ethiology and pathogenesis of venous thrombosis in the Portuguese “in risk” population: From clinical manifestations to identification of hereditary risk and protective factors as well as exogenous or ambiental factors
PIC/IC/82735/2007
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Concluded
2002/02/15 - 2006/10/15 Characterization of disease-associated chromosomal translocations; molecular pathology of Peters’ anomaly linked with a 1;7 translocation
POCTI/MGI/38649/2001
Principal investigator
Concluded
2002 - 2004 Genetic Modifiers of Morbidity in Sickle Cell Disease
IME/49853/MGI/2003
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1995/01/01 - 1998/12/31 Identification, cloning and characterization of the regions flanking the jumping translocation t(X;21)/(X;15)(q26;p11)
PECS/C/SAU/227/95
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1995/01/01 - 1998/12 Expression of the haemophilia A and B genes, factors VIII and IX.
PECS/C/SAU/237/95
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Concluded
1992/01/01 - 1995/12/31 Identification and characterization of the molecular basis of the factor IX gene family deficiencies: factors VII, IX, X, protein C and Z
PBIC/C/SAU/1588/92
Principal investigator
1991/01/01 - 1994/12/31 Molecular biology of haemophilia A; Identification and characterization of the molecular basis
PMCT/C/SAU/234/90
Principal investigator
1988 - 1991 Molecular pathology of human genetic disorders (thalassemias and haemophilias) – Component of prevention strategy in the Portuguese population
Ref.: 87128/IMU
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Outputs

Publications

Book chapter
  1. David, Dezso; Almeida, Lígia S.; Maggi, Maristella; Araújo, Carlos; Imreh, Stefan; Valentini, Giovanna; Fekete, György; Haltrich, Irén. "Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene". In JIMD Reports, Volume 23, 55-65. Springer Berlin Heidelberg, 2015.
    10.1007/8904_2015_427
  2. David, Dezso. "Molecular defects in haemophilia A". In Molecular bases of human diseases, 101-108. Elsevier Science Publisher B, 1993.
    Published
  3. David, Dezso. "Phenotypes of carboxil-terminal rhodopsin mutations in autosomal dominant retinitis pigmentosa.". In Retinal Degeneration: Clinical and Laboratory Applications, 115. Plenum Publishing Corporation, 1993.
  4. David, Dezso. "Clinical features of autosomal dominant retinitis pigmentosa associated with the Gly-188-Arg mutation of the rhodopsin gene". In Retinal Degeneration: Clinical and Laboratory Applications, 91. Plenum Publishing Corporation, 1993.
  5. Venetianer, A.; David, D.. "Regulation of Liver Gene Expression in Dexamethasone Resistant Hepatoma Cells". In Activation of Hormone and Growth Factor Receptors, 173-193. Springer Netherlands, 1990.
    10.1007/978-94-009-1936-5_15
Conference abstract
  1. David, Dezso. "CC9:Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes". Paper presented in 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2017.
  2. David, Dezso; David, Dezso; Anand, Deepti; Araújo, Carlos; Gloss, Brian; Fino, Joana; Marques, Bárbara; et al. "CC7: Identification of two new candidate genes OAF and PVRL1 for Peters anomaly and ectopia lentis.". Paper presented in 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Coimbra, 2016.
    Published
  3. David, Dezso; Redin, Claire; Brand, Harrison; Collins, Ryan; Hanscom, Carrie; Vamsee, Pillalamarri; Kammin, Tammy; et al. "PL2.1: Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies". Paper presented in European Human Genetics Conference, Barcelona, 2016.
    Published
  4. David, Dezso. "CO.4: Next-gen cytogenetics and the hidden complexity of genomic or chromosomal rearrangements". Paper presented in 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Poto, 2015.
    Published
  5. David, Dezso; Haltrich I; Marques B; Malveiro S; Fekete Gy. "P1078 - Disruption of NUBPL due to balanced translocation [t(3;14)(3q26.33;q14)] is not associated with clinical phenotype but increases severity of a family-specific PGK1 mutation.". Paper presented in European Human Genetics Conference 2013 (Eur J Hum Genet), Paris, 2013.
    Published
  6. B Marques; C Ferreira; C Araújo; L Vieira; M Martins; M Pinto; C Dias; David, Dezso. "P90 - Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation.". Paper presented in 8th E.C.A. Conference 2011, Porto (Chromosome Res.), Porto, 2011.
    Published
  7. K Hadzsiev; G Szabo; David, Dezso; M Czako; B. Melegh; G Kosztolanyi. "P02.045 - A girl with the feature of Binder syndrome and partial trisomy of the pericentromeric region of chromosome 5.". Paper presented in EUROPEAN Human Genetics CONFERENCE 2011 (Eur J Hum Genet), Amsterdão, 2011.
  8. David, Dezso; I Santos; B Marques; H Correia,; F Teixeira. "P91 - A pathogenic breakpoint at 366.8 kb from the 3’ end of the SATB2 leads to a 3q33.1 microdeletion-like phenotype.". Paper presented in 8th E.C.A. Conference 2011, Porto (Chromosome Res,), Porto, 2011.
    Published
  9. David, Dezso; B. Marques; C. Pires,; P. Vieira; C. Reis; S. Malveira; A. Corona- Rivera; J. C. Ferreira; H. van Bokhoven. "Abstract PO1.155 - Characterization of two translocation-associated ectrodactyly related loci in distal 2q14.1 and proximal 2q14.2 and the corresponding candidate genes.". Paper presented in EUROPEAN Human Genetics CONFERENCE 2008 (European Journal of Human Genetics), Barcelona, 2008.
    Published
  10. David, Dezso; Ventura C; Kemball-Cook G; Diniz MJ; Antunes M; Tavares A; Araújo F; et al. "Abstract P0223 - The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 163 Portuguese Patients.". Paper presented in XXth International Congress of the International Society on Thrombosis and Haemostasis (J Thromb Haemost), Sydney, 2005.
    Published
  11. David, Dezso; Joana Cardoso; Bárbara Marques; Ramira Marques; Eduardo D. Silva; Heloísa Santos; Maria G. Boavida. "Abstract 94 - Molecular characterization of a familial translocation implicates possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly.". Paper presented in Transgenic Res,, 2005.
    Published
  12. F. Boieiro; M. C. Silva; B. Marques; L. Simão; M. Silva; I. Moreira; David, Dezso; et al. "Poster 5.2 - Ring chromosome 13 mosaicism in newborn with multiple malformations: Cytogenetic and molecular studies.". Paper presented in Ann Genet, 2003.
    Published
  13. David, Dezso; Ribeiro S; Ferrão L; Gago T; Campos M; Crespo F. "Abstract P1014 - Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of underlying molecular defects and screening for additional thrombotic risk factors.". Paper presented in J Thromb Haemost, 2003.
    Published
  14. David, Dezso; E Saenko; IMA Santos; DJD Johnson; EGD Tuddenham; J-H McVey; G Kemball-Cook. "Abstract PS3-125 - Stable recombinant expression and characterization of the two haemophilic FVIII variants C329S (CRM-) and G1948D (CRMr).". Paper presented in Eur J Biochemistry, 2001.
    Published
  15. S. Ribeiro; T. Gago; F. Crespo; M. Campos; David, Dezso. "Abstract 106 - Identification of five mutations in the antithrombin III gene in unrelated Portuguese families with recurrent thromboembolism and hereditary Antithrombin deficiency.". Paper presented in Thrombosis 16th International Congress (Haemostasis), Porto, 2000.
    Published
  16. I. Moreira; T. Gago; F. Crespo; David, Dezso. "Abstract 72 - Multiplex PCR-SSCP screening of potential genetic risk factors in a group of Portuguese patients with venous thrombosis.". Paper presented in Thrombosis 16th International Congress (Haemostasis), Porto, 2000.
    Published
  17. Kutrsche, Kerstin; Yntema, H.; Brandt, A.; Jantke, I.; Nothwang, H.G.; Orth, U.; Boavida, M.G.; et al. "Abstract P- 585 - Mutations in alpha PIX, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.". Paper presented in 9th International Congress of Human Genetics (Eur J Hum Genet), 2000.
    Published
  18. C Ventura; AIM Santos; F Araújo; MJ Diniz; M Campos; LM Cunha-Ribeiro; J Lavinha; David, Dezso. "Abstract 879 - Hemophilia A in the Portuguese: Mutation analysis reveal further genotypic and phenotypic heterogeneity.". Paper presented in Congress of the International Society on Thrombosis and Haemostasis (Thromb Haemost), 1999.
    Published
  19. I Moreira; MJ Diniz; F Araùjo; S Morais; J Lavinha; David, Dezso. "Abstract 876 - Further molecular genetic analysis of factor IX gene in Portuguese hemophilia B patients indicates mutation heterogeneity.". Paper presented in Congress of the International Society on Thrombosis and Haemostasis (Thromb Haemost), 1999.
    Published
  20. David, Dezso; AIM Santos; K Johnson; EGD Tuddenham; JH McVey. "Abstract 750 - mRNA processing, translation and protein secretion from factor VIII genes containing premature Stop codons: no correlation with inhibitor development..". Paper presented in Congress of the International Society on Thrombosis and Haemostasis (Thromb Haemost), 1999.
    Published
  21. Kutsche K.; Janke I.; Schmidt M.; Nothwang H-G.; Boavida M.G.; David, Dezso; Gal A.. "Abstract 1448 - Cloning and molecular characterization of translocation breakpoint region in two constitutional chromosome rearrangements. Am J Hum Genet, 63 Sup: (abstract 1448) 1998.". Paper presented in Ameican Society of Human Genetics (Am J Hum Genet.), 1998.
    Published
  22. Araújo F.; Santos A.; Moura L.; Maciel J.; David, Dezso; Cunha-Ribeiro L.M.. "Abstract 121 - The polymorphism of platelet glycoprotein IIb/IIIa and Factor V Leiden in acute coronary disease.". Paper presented in Haemostasis, 1998.
    Published
  23. David, Dezso; Schwaab R.; Santos A.I.M.; McVey J.; Tuddenham E.G.D.. "P4.055 - Impact of premature stop codons on factor VIII and recombinant re-VIIISQ pre-mRNA processing, correlation with inhibitor formation.". Paper presented in European Society of Human Genetics - 29th Annual Meeting (Eur J Hum Genet), 1998.
    Published
  24. David, Dezso; Morais S.; Ventura C.; Santos A.I.M.; Lavinha J.; Campos M.. "Abstract P4.056 - Non-random X chromosome inactivation in a female with severe factor VIII deficiency, homozygous for the FVIII inversion mutation.". Paper presented in European Society of Human Genetics - 29th Annual Meeting (Eur J Hum Genet), 1998.
    Published
  25. Ribeiro S.; Gago T.; Crespo F.; Campos M.; David, Dezso. "Abstract P4.058- Molecular basis of antithrombin III deficiency: identification of underlying molecular defects in the Portuguese population.". Paper presented in European Society of Human Genetics - 29th Annual Meeting (Eur J Hum Genet), 1998.
    Published
  26. Moreira I.; Tavares A.; Diniz M.J.; Gago T.; Santos H.A.; Barbot J.; Lavinha J.; David, Dezso. "Abstract P4.057 - Molecular pathology of factor VII deficiency in patients of Portuguese origin.". Paper presented in European Society of Human Genetics - 29th Annual Meeting (Eur J Hum Genet), 1998.
    Published
  27. Moreira I.; Barbot J.; Fortuna A.; Lavinha J.; David, Dezso. "Abstract PS-2961 - Prenatal diagnosis in a family with hereditary factor VII deficiency.". Paper presented in Thromb Haemost,, 1997.
    Published
  28. Ventura C.; Santos A.I.M.; Tavares A.; de Deus G.; Gago T.; David, Dezso. "Abstract PS- 859 - Molecular pathology of factor XI deficiency in the Portuguese population.". Paper presented in Thromb Haemost, 1997.
    Published
  29. Bustorff T.C.; Freire I.; Gago T.; Crespo F.; David, Dezso. "Abstract 5.077 - Identification of three novel mutations in hereditary protein S deficiency.". Paper presented in European Society of Human Genetics - 28th Annual Meeting (Eur J Hum Genet), Londres, 1996.
    Published
  30. Moreira I.; David, Dezso. "Abstract 5.080 - Intracellular localisation of variant factor IX proteins corresponding to CRM- phenotypes expressed in CHO cells.". Paper presented in European Society of Human Genetics - 28th Annual Meeting (Eur J Hum Genet), Londres, 1996.
    Published
  31. David, Dezso; Orth U.; Hanauer A.; Gal A.. "Genetic analysis of the molecular pathology of oculocerebrorenal syndrome of Lowe.". Paper presented in European Society of Human Genetics - 28th Annual Meeting (Eur J Hum Genet), Londres, 1996.
    Published
  32. David, Dezso; de Deus G.; Morais S.; Lavinha J.. "Abstract 233 - Non-radioactive multiplex PCR-SSCP analysis of the molecular pathology of haemophilia B.". Paper presented in Thromb Haemos, 1995.
    Published
  33. David, Dezso; Moreira I.; Lalloz M.R.A.; Rosa H.A.V.; Morais S.; de Deus G.; Diniz M.J.; et al. "Abstract 808 - Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia A.". Paper presented in Thromb Haemost, Sup, 1993., 1993.
    Published
  34. David, Dezso. "Detecção indirecta e directa de portadores e diagnóstico pré-natal de hemofilias em Portugal.". Paper presented in Revista Portuguesa de Trombose e Hemostase, 1992.
    Published
  35. David, Dezso. "Identificação e caracterização da base molecular das hemofilias A e B.". Paper presented in Revista Portuguesa de Trombose e Hemostase, 1992.
    Published
  36. Gal A.; Bunge S.; Wedemann H.; Alehla-Scholz C.; David, Dezso; Tewilliger D.J.; Horn M.; et al. "Abstract 12 - Molecular analysis and mapping of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa". Paper presented in Ameican Society of Human Genetics (Am J Hum Genet.), 1992.
    Published
  37. Michaelides K.; David, Dezso; Schwaab R.; Lalloz M.R.A.; McVey J.H.; Brackmann H.H.; Tuddenham E.G.D.. "Abstract 506 - Single stranded conformational polymorphism (SSCP) is an efficient mutation screening technique in the factor VIII gene. A study of 10 haemophilia A patients.". Paper presented in Brit J Haemat, Sup: 1992., 1992.
    Published
  38. Schwaab R.; David, Dezso; Michaelides K.; Lalloz M.R.A.; McVey J.H.; Brackmann H.H.; Tuddenham E.G.D.. "Abstract 1605 - Mutation screening in the factor VIII gene of 9 mild-to-moderate haemophilia A patients by chemical cleavage.". 1992.
    Published
  39. David, Dezso; Schwaab R.; Michaelides K.; Lalloz M.R.A.; McVey J.H.; Tuddenham E.G.D.. "Abstract 504 - PCR-SSCP analysis of the factor VIII gene: a rapid simple technique for detection of mutations and polymorphisms.". 1992.
    Published
Conference paper
  1. David, Dezso. "Identification and genotype-phenotype correlation of structural chromosomal alterations". Paper presented in XVIII Avances en Medicina Hospital Civil de Guadalajara, 2016.
    Published
  2. Marques, Mariana; Talkowski, Michael E.; Freixo, João; Rui, Gonçalves; Morton, Cynthia C.; David, Dezso. "Array and NGS based characterization of translocation breakpoints of the t(2:7)(q23;q32),t(5;6)(q23,q26)dn". 2015.
  3. David, Dezso; Freixo, João; Carvalho, Inês; Tkachenko, Natalia; Oliva Teles, Natália; Marques, Bárbara; Alves, Ana Cristina; et al. "Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearrangements". 2015.
  4. Pinto Cardoso, Manuela; Talkowski, Michael E.; Freixo, João; Gonçalves, Rui; Morton, Cynthia C.; David, Dezso. "Exclusion of inv(2)(p16.1;q14.3) as the cause of a severe congenital disease by Next-Generation Sequencing". 2015.
  5. David, Dezso; Haltrich, Iren; Marques, Barbara; Fernandes, Cristina; Malveiro, Sara; Fekete, György; Fernandes, Catarina. "Disruption of NUBPL due to balanced translocation [t(3;14) (q26.33;q14)] increases severity of a family-specific PGK1 mutation". 2013.
  6. Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Martins, Márcia; Pinto, Maximina; Dias, Cristina; David, Dezso. "Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation". 2011.
  7. David, Dezso; Santos, Inês; Marques, Bárbara; Correia, Hildeberto; Teixeira, Filomena. "A pathogenic breakpoint at 566.8 kb from the 3' end of the SATB2 leads to a 2q33.1 microdeletionlike phenotype". 2011.
Conference poster
  1. David, Dezso. "P11.027C: Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes". Paper presented in European Human Genetics Conference, 2018.
  2. David, Dezso. "Cyt&Gen P50: Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsis". Paper presented in 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2017.
  3. David, Dezso. "Clin&Gen P50:KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogenetics". Paper presented in 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2017.
  4. Moreira I; Ventura C; Saraiva JM; Medeira A; Sousa AB; Ramos L; Fortuna AM; et al. "OCRL gene alterations profile in families with Lowe Syndrome and Dent Disease 2 from the Portuguese population.". Paper presented in 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Coimbra., 2016.
  5. David, Dezso; Deepti A; Araújo C; Gloss B; Fino J; Marques B; Dinger M; et al. "Identification of two new candidate genes OAF and PVRL1 for Peters anomaly and ectopia lentis.". Paper presented in 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Coimbra, 2016.
  6. David, Dezso; David, Dezso; Freixo, João; Marques, Bárbara; Carvalho, Inês; Tkachenko, Natália; Oliva-Teles, Natália; et al. "P11.027: Early results of next-gen cytogenetics implementation in Portugal". Paper presented in European Human Genetics Conference, 2016.
  7. David, Dezso; Oliva-Teles N; Freixo J; Fonseca e Silva ML; Fortuna A; Tkachenko N; Carvalho I; et al. "Citogenética de Próxima Geração: Implementação e primeiros resultados em Portugal.". Paper presented in XLV Conferências de Genética Doutor Jacinto Magalhães, “Genética Cardiovascular: da Clínica ao Laboratório”, 2016.
  8. David, Dezso. "Poster 24: Array and NGS based characterization of translocation breakpoints of the t(2;7)(q23;q32),t(5;6)(q23;q26)dn". Paper presented in 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2015.
  9. David, Dezso. "Poster 28: Exclusion of inv(2)(p16.1;q14.3) as the cause of a severe congenital disease by Next-Generation Sequencing". Paper presented in 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2015.
  10. David, Dezso; Haltrich I; Maggi M; Almeida L; Araújo C; Marques B; Valentini G; Imreh S; Fekete Gy. "Clinically severe PGK1 deficiency due to the novel c.358G>A mutation is probably exacerbated in t(3;14)(q26.33;q12) carriers by disruption of complex I assembly factor, NUBPL.". Paper presented in Congresso Jubilar da Sociedade Húngara de Genética Humana, Budapest, Formação Médica LXXXIX/4., 2014.
  11. David, Dezso; B. Marques; C. Pires; P. Vieira; C. Reis; S. Malveira; A. Corona-Rivera; J. C. Ferreira; H. van Bokhoven. "Characterization of two translocation-associated ectrodactyly related loci in distal 2q14.1 and proximal 2q14.2 and the corresponding candidate genes.". Paper presented in VII Congresso da Sociedade de Genética Humana Húngara, Pécs, Hungria., 2008.
  12. David, Dezso. "Identification of novel candidate genes for congenital anomalies. Modern Trends in Biological Sciences: Seeking an Integrative Approach,". Paper presented in 1st ITC Alumni Meeting, Szeged, Hungria., 2006.
  13. Lavinha J,; Faustino P.; Martins R.; Nogueira P.; David, Dezso. "Abstract P3: Arquitectura etiológica de doenças hematologicas mendelianas: contribuição da genética de populações.". Paper presented in Annual Meeting of the Portuguese Society of Human Genetics, 9th edition, 2005.
  14. Moreira Isabel; Gago Teresa; Diniz Maria João; Tavares Alice; Santos Helena Augusta; Braga Lígia,; Fernandes Helena; David, Dezso. "Abstract P41 - Factor VII deficiency in patients of Portuguese origin - four novel mutations.". Paper presented in Annual Meeting of the Portuguese Society of Human Genetics, 9th edition, 2005.
  15. David, Dezso; Joana Cardoso; Bárbara Marques; Ramira Marques; Eduardo D. Silva; Heloísa Santos; Maria G. Boavida. "Molecular characterization of a familial translocation implicates possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly.". Paper presented in FASEB Summer Research Conferences, TGF-ß Superfamily: Signaling and Development, 2005.
  16. David, Dezso; Joana Cardoso; Bárbara Marques; Ramira Marques; Eduardo D. Silva; Heloísa Santos; Maria G. Boavida. "Abstract P47 - Fine mapping of translocation breakpoint by FISH: Characterization of a Peter´s anomaly associated familial translocation.". Paper presented in Marie Curie Conferences and Training Curses on ArrayCGH and Molecular Cytogenetics. The Sanger Institute, 2004.
  17. Silva, Eduardo; Faria, Pedro; Cardoso, Joana; Boavida, Guida; David, Dezso. "Molecular characterization of a familial translocation associated with Peters anomaly.". Paper presented in EPOS 2004 (EUROPEAN PAEDIATRIC OPHTHALMOLOGICAL SOCIETY), 2004.
  18. David, Dezso; Joana Cardoso; Bárbara Marques; Ramira Marques; Eduardo D. Silva; Heloísa Santos; Maria G. Boavida. "P30 - Molecular characterization of a familial translocation implicates HDAC9 and TGFB2 in the pathogenesis of Peters´ anomaly. HGM2003,". Paper presented in Human Genom Meeting, 2003.
  19. Luís Vieira; Khalid Sossey-Alaoui K; David, Dezso; Leonor Osorio; Maria G Boavida; John K. Cowell. "P2 - Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor.". Paper presented in 8th European Workshop on cytogenetics and Molecular Genetics of Human Solid Tumours, Barcelona, 2002.
  20. David, Dezso; Joana Cardoso; Bárbara Marques; Ramira Marques; Manuela Novais; Heloísa Santos; Maria G. Boavida. "P7 - Molecular characterization of a Peters’-like anomaly associated familial translocation.". Paper presented in Congresso Nacional de Bioquímica, Lisboa, Portugal, 2002.
  21. Luís Vieira; Khalid Sossey-Alaoui K; David, Dezso; Maria G Boavida; John K. Cowell. "Characterização molecular de uma delecção em homozigotie em 7p15-21 num tumor de Wilms.". Paper presented in 6ª Reunião da Sociedade Portuguesa de Genética Humana, Porto, 2002.
  22. T Gago; I Moreira; David, Dezso; F Crespo. "P10 - Comparação dos resultados de homocisteína no plasma com a presença da mutação C677T na MTHR numa população com trombose.". Paper presented in 9º Simpósio Internacional de Trombose e Hemostase e 1ª Reunião do Fórum Hematológico do Norte, Porto, Portugal, 2002.
  23. T Gago,; I Moreira; David, Dezso; F Crespo. "P1 - Resultados da consulta de trombofilia, em doentes com trombose venosa com menos de 45 anos.". Paper presented in 9º Simpósio Internacional de Trombose e Hemostase e 1ª Reunião do Fórum Hematológico do Norte, Porto, Portugal, 2002.
  24. J Lavinha; P Pacheco; David, Dezso; P Faustino. "Prevenção e tratamento das doenças mendelianas: papel da investigação em genética e biologia moleculares.". 2000.
  25. Lavinha J.; David, Dezso; Pacheco P.. "Doenças genéticas mendelianas: O presente e o futuro da caracterização molecular.". Paper presented in 7º Encontro de Pediatria do Hospital Pediátrico de Coimbra, 1998.
  26. Silva M.J.; David, Dezso; Castelo-Branco N; Castelo-Branco M.J; Boavida M.G.. "Resumo 423 - Trocas de cromatídeos irmãos (SCE) no síndroma das vibrações.". Paper presented in XXIII Jornadas Luso-Espanholas de Genética, Lisboa, 1997.
  27. Lavinha J.; Gonçalves J.; Faustino P.; David, Dezso. "Arabian import into the portuguese gene pool. European Research Conferences: “Inherited disorders and their genes in different European populations”.". Paper presented in San Feliu de Guixols, Espanha, 1995.
  28. David, Dezso. "Abstract O98 - Analysis of the molecular pathology of the oculocerebrorenal syndrome of Lowe.". Paper presented in XXX Jornadas Luso-Espanholas de Genética, Lisboa, Portugal, 1995.
  29. David, Dezso; Moreira I.; de Deus G.; Campos M.; Lavinha J.. "Non-radioactive multiplex PCR-SSCP analysis of the molecular pathology of haemophilia B.". 1995.
  30. Pacheco P; David, Dezso; Moreira I.; Gonçalves J.; Duarte A.; Loureiro P.; Ventura C.; Lavinha J.. "Diagnóstico pré-natal de doenças monogénicas.". Paper presented in III Jornadas Internacionais de Diagnóstico pré-natal, Espinho, 1994.
  31. Moreira I.; Boavida G.; Lavinha J.; David, Dezso. "Expressão do gene do factor IX num sistema celular eucariótico,". Paper presented in XXIX Jornadas Luso-Espanholas de Genética, Lleida, Espanha, 1994.
  32. David, Dezso; Rosa H.A.V.; Moreira I.; Lavinha J.. "Genética molecular das patologias associadas aos factores VIII, IX, VII, X e proteína C.". Paper presented in II Congresso da Sociedade Portuguesa de Trombose e Haemostase, Lisboa, Portugal, 1994.
  33. David, Dezso. "Base molecular das hemofilias A e B.". Paper presented in Jornadas Luso-Espanholas de Genética, Faro, Portugal, 1993.
  34. Morais S.; Cooper D.; Lavinha J.; David, Dezso. "Detecção de alterações na região 5’ do gene do factor VIII.". Paper presented in XXVIII Jornadas Luso-Espanholas de Genética, Faro, Portugal, 1993.
  35. Rosa H.A.V.; Campos M.; Lavinha J.; David, Dezso. "Factor VII Gondomar: uma nova mutação associada à deficiência do factor VII na população portuguesa.". Paper presented in XXVIII Jornadas Luso-Espanholas de Genética, Faro, Portugal, 1993.
  36. David, Dezso. "Biologia molecular das hemofilias A e B: Base molecular e diagnóstico.". Paper presented in 6º Simpósio Internacional de Trombose e Hemostase, Póvoa de Varzim, 1993.
  37. David, Dezso; Faustino P.; Rosa H.; Duarte A.; Pacheco P; Lavinha J.. "Testing the predictive value of replication-based model of mutagenesis in human disease gene mutations.". Paper presented in 15th Annual Conference on the Organisation and Expression of the genome, Lorne, Victoria, Australia, 1993.
  38. David, Dezso; Mergulhão C.; Capucho I.; Lavinha J.. "Resumo 337.3 - Polimorfismos de DNA associados ao gene do factor VIII:C na população portuguesa.". Paper presented in XXVII Jornadas Luso-Espanholas de Genética, Coimbra, 1991.
  39. David, Dezso; Rosa H.A.V.; Lavinha J.. "Resumo 337.2 - Factor IXBarcelos: uma nova mutação do factor IX no nucleótido 31259, numa família portuguesa.". Paper presented in XXVII Jornadas Luso-Espanholas de Genética, Coimbra, 1991.
  40. David, Dezso. "Resumo 337.1 - Polimorfismo conformacional do DNA em cadeia simples; aplicação para genes dos factores de coagulação VIII e IX.". Paper presented in XXVII Jornadas Luso-Espanholas de Genética, Coimbra, 1991.
  41. Morais, S.; Almeida G.; Lima M.; Sousa S.; Mota A.; Fortuna A.M.; David, Dezso; Campos M.. "Hemofilia A. Resultados de estudos genéticos.". Paper presented in 5º Simpósio Internacional de Trombose e Hemostase, Póvoa de Varzim, 1991.
  42. David, Dezso; Mergulhão C.; Lavinha J.. "Polimorfismos de DNA nos loci dos factores de coagulação VIII:C e IX em Xq28: implicações para a detecção de portadoras e o diagnóstico prénatal das hemofilias na população portuguesa.". Paper presented in XXVII Conferências de Genética. A Biologia Molecular na Medicina, Porto, 1991.
  43. David, Dezso; Capucho I.; Quintas I.; Feijó M.J.; Dinis M.J.; Matos P; Sistelo J.C.; Campos M.; Lavinha J.. "Dois anos de detecção de portadores e diagnóstico pré-natal de hemofilia A em Portugal, baseado na análise de DNA.". Paper presented in V Simpósio de Hematologia, Coimbra, 1990.
  44. Almeida G.; Lima M.; Morais, S.; Barbot J; David, Dezso; Pereira I.; Lavinha J.; Justica B.; Campos M.. "Hemofilia A no sexo feminino. Um caso clínico.". Paper presented in 5º Simpósio Internacional de Trombose e Hemostase, Póvoa de Varzim, 1990.
  45. Venetianer A.; David, Dezso. "Abstract 31.23.1 - Correlation of methylation with transcription of alpha-fetoprotein and albumin genes in rat hepatoma cell hybrids.". Paper presented in XVIth International Congress of Genetics, Toronto, Canada (abstract 31.23.1), 1989.
  46. David, Dezso; Lavinha J.. "P45 - Hemofilia A: análise molecular em famílias portuguesas". Paper presented in XXIV Jornadas Luso-Espanholas de Genética, Évora,, 1989.
  47. Venetianer A.; David, Dezso. "P8.5.56 - Correlation of methylation with transcription of alpha-fetoprotein and albumin genes in rat hepatoma cell hybrids.". Paper presented in Fourth International Congress of Cell Biology, Montréal, Canada, 1988.
  48. David, Dezso; Silva M.J; M.G. Boavida. "Resumo 424 - Contribuição para o conhecimento dos efeitos citogenotóxicos da Mitomicina C (MMC)". Paper presented in XXIII Jornadas Luso-Espanholas de Genética, Lisboa, 1987.
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.
    Published • 10.3389/fgene.2021.757170
  2. Lengyel, Anna; Pinti, Éva; Pikó, Henriett; Jávorszky, Eszter; David, Dezso; Tihanyi, Mariann; Gönczi, Éva; et al. "Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature". European Journal of Medical Genetics 63 10 (2020): 104027. http://dx.doi.org/10.1016/j.ejmg.2020.104027.
    10.1016/j.ejmg.2020.104027
  3. David, Dezso; Freixo, João P.; Fino, Joana; Carvalho, Inês; Marques, Mariana; Cardoso, Manuela; Piña-Aguilar, Raul E.; Morton, Cynthia C.. "Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape". Human Genetics 139 4 (2020): 531-543. http://dx.doi.org/10.1007/s00439-020-02121-x.
    10.1007/s00439-020-02121-x
  4. Corona-Rivera, Jorge Román; Corona-Rivera, Alfredo; Zepeda-Romero, Luz Consuelo; Rios-Flores, Izabel Maryalexandra; Rivera-Vargas, Jehú; Orozco-Vela, Mireya; Santana-Bejarano, Uriel Francisco; et al. "Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes". Congenital Anomalies 59 5 (2018): 174-178. http://dx.doi.org/10.1111/cga.12309.
    10.1111/cga.12309
  5. David, Dezso; Anand, Deepti; Araújo, Carlos; Gloss, Brian; Fino, Joana; Dinger, Marcel; Lindahl, Päivi; et al. "Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis". Experimental Eye Research 168 (2018): 161-170. http://dx.doi.org/10.1016/j.exer.2017.12.012.
    10.1016/j.exer.2017.12.012
  6. Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; et al. "The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies". Nature Genetics 49 1 (2016): 36-45. http://dx.doi.org/10.1038/ng.3720.
    Published • 10.1038/ng.3720
  7. David, Dezso; Oliva-Teles, Natália; Freixo, J; Fortuna, Ana; Tkachenko, Natalyia; Carvalho, Isabel; Marques, M; et al. "CITOGENÉTICA DE PRÓXIMA GERAÇÃO: IMPLEMENTAÇÃO E PRIMEIROS RESULTADOS EM PORTUGAL". NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL 25 Supp I (2016): https://revistas.rcaap.pt/nascercrescer/article/view/10542.
    Published • 10.25753/BirthGrowthMJ.v25.i0.10542
  8. Gómez, V; Machado, A; Rama, P; Furtado, C; David, D; Miranda, N; Branco, MJ; Isidro, G. "Evaluating the European Union Committee of Experts on Rare Diseases Joint Action". European Journal of Public Health 25 suppl_3 (2015): http://dx.doi.org/10.1093/eurpub/ckv176.033.
    Open access • Published • 10.1093/eurpub/ckv176.033
  9. Haltrich, Irén; Pikó, Henriett; Pamjav, Horolma; Somogyi, Anikó; Völgyi, Antónia; David, Dezso; Beke, Artúr; et al. "Complex X chromosome rearrangement associated with multiorgan autoimmunity". Molecular Cytogenetics 8 1 (2015): http://dx.doi.org/10.1186/s13039-015-0152-5.
    10.1186/s13039-015-0152-5
  10. Gómez, Verónica; Rama, Patrícia; Machado, Ausenda; Braz, Paula; Furtado, Cristina; David, Dezso; Miranda, Natércia; Isidro, Glória. "As doenças raras na Europa: o enquadramento português". Boletim Epidemiológico Observações 7 5 (2015): 4-7. http://hdl.handle.net/10400.18/3784.
    Open access • Published
  11. Hadzsiev, Kinga; Dávid, Dezso; Szabó, Gyula; Czakó, Márta; Melegh, Béla; Kosztolányi, György. "Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype". Cytogenetic and Genome Research 144 3 (2014): 190-195. http://dx.doi.org/10.1159/000369653.
    10.1159/000369653
  12. David, Dezso; Ferreira, Cristina; Ventura, Célia; Freire, Isabel; Moreira, Isabel; Gago, Teresa. "Genetic defects in Portuguese families with inherited protein C deficiency". Thrombosis Research 128 3 (2011): 299-302. http://hdl.handle.net/10400.18/571.
    doi:10.1016/j.thromres.2011.05.001
  13. 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
  14. Moreira I; Faustino P; Picanço I; Martins R; Morais A; Dias A; Soares I; et al. "Variantes genéticas pró-trombóticas como (improváveis?) factores de risco para as grandes crises vaso-oclusivas na drepanocitose". AB0 Revista de Medicina Transfusional, 39;17-21, 2009. 39 (2009): 17-21.
  15. David, Dezso. "The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients". Haematologica 91 (2006): 840.
    Published
  16. David, Dezsö; Ribeiro, Sofia; Ferrão, Lénia; Gago, Teresa; Crespo, Francisco. "Molecular basis of inherited antithrombin deficiency in Portuguese families: Identification of genetic alterations and screening for additional thrombotic risk factors". American Journal of Hematology 76 2 (2004): 163-171. http://dx.doi.org/10.1002/ajh.20067.
    10.1002/ajh.20067
  17. 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
  18. David, D.; Santos, I. M. A.; Johnson, K.; Tuddenham, E. G. D.; McVey, J. H.. "Analysis of the consequences of premature termination codons within factor VIII coding sequences". Journal of Thrombosis and Haemostasis 1 1 (2003): 139-146. http://dx.doi.org/10.1046/j.1538-7836.2003.00013.x.
    10.1046/j.1538-7836.2003.00013.x
  19. David, D.; Morais, S.; Ventura, C.; Campos, M.. "Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles". Haemophilia 9 1 (2003): 125-130. http://dx.doi.org/10.1046/j.1365-2516.2003.00704.x.
    10.1046/j.1365-2516.2003.00704.x
  20. Sossey-Alaoui, Khalid; Vieira, Lu¿s; David, Dezso; Boavida, Maria G.; Cowell, John K.. "Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor". Genes, Chromosomes and Cancer 36 1 (2002): 1-6. http://dx.doi.org/10.1002/gcc.10133.
    10.1002/gcc.10133
  21. David, Dezso; Saenko, Evgueni L.; Santos, I. M. Ana; Johnson, Daniel J. D.; Tuddenham, Edward G. D.; McVey, John H.; Kemball-Cook, Geoffrey. "Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM-) and G1948D (CRMr)". British Journal of Haematology 113 3 (2001): 604-615. http://dx.doi.org/10.1046/j.1365-2141.2001.02399.x.
    10.1046/j.1365-2141.2001.02399.x
  22. Kutsche, Kerstin; Yntema, Helger; Brandt, Alexander; Jantke, Inka; Gerd Nothwang, Hans; Orth, Ulrike; Boavida, Maria G.; et al. "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation". Nature Genetics 26 2 (2000): 247-250. http://dx.doi.org/10.1038/80002.
    10.1038/80002
  23. Ventura, Célia; Santos, Ana I.; Tavares, Alice; Gago, Teresa; Lavinha, João; McVey, John; David, Dezsö. "Molecular Genetic Analysis of Factor XI Deficiency: Identification of Five Novel Gene Alterations and the Origin of Type II Mutation in Portuguese Families". Thrombosis and Haemostasis 84 11 (2000): 833-840. http://dx.doi.org/10.1055/s-0037-1614125.
    10.1055/s-0037-1614125
  24. Araújo, F.; Santos, A.; Araújo, V.; Henriques, I.; Monteiro, F.; Meireles, E.; Moreira, I.; et al. "Genetic Risk Factors in Acute Coronary Disease". Pathophysiology of Haemostasis and Thrombosis 29 4 (1999): 212-218. http://dx.doi.org/10.1159/000022504.
    10.1159/000022504
  25. David, Dezso; Moreira, Isabel; Morais, Sara; De Deus, Graça. "Five novel factor IX mutations in unrelated hemophilia B patients". Human Mutation 11 S1 (1998): S301-S303. http://dx.doi.org/10.1002/humu.1380110194.
    10.1002/humu.1380110194
  26. Bustorff, Teresa C; Freire, Isabel; Gago, Teresa; Crespo, Francisco; David, Dezsö. "Identification of Three Novel Mutations in Hereditary Protein S Deficiency". Thrombosis and Haemostasis 77 01 (1997): 021-025. http://dx.doi.org/10.1055/s-0038-1655730.
    10.1055/s-0038-1655730
  27. Ballestrem, C. L.; Boavida, M. G.; Zuther, C.; Carreiro, M. H.; David, D.; Gal, A.; Schwinger, E.. "Jumping translocation in a phenotypically normal female". Clinical Genetics 49 3 (1996): 156-159. http://dx.doi.org/10.1111/j.1399-0004.1996.tb03276.x.
    10.1111/j.1399-0004.1996.tb03276.x
  28. David, Dezso. "“Exogenous” genetic features at disease-associated loci in the Portuguese population". Cellular Pharmacology 3 (1996): 123-128.
    Published
  29. David, Dezsö; Orth, Ulrike; Heilbronner, Helmut; Gal, Andreas. "A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome". Human Mutation 7 2 (1996): 181-182. http://dx.doi.org/10.1002/(sici)1098-1004(1996)7:2<181::aid-humu18>3.0.co;2-z.
    10.1002/(sici)1098-1004(1996)7:2<181::aid-humu18>3.0.co;2-z
  30. David, Dezs¿; Tavares, Alice; Lavinha, Joao. "Characterization of a splicing mutation in the factor VIII gene at the RNA level". Human Genetics 95 1 (1995): http://dx.doi.org/10.1007/bf00225086.
    10.1007/bf00225086
  31. David, D.; Moreira, I.; Lalloz, M. R. A.; Rosa, H. A. V.; Schwaab, R.; Morais, S.; Diniz, M. J.; et al. "Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism". Blood Coagulation & Fibrinolysis 5 2 (1994): 257-264. http://dx.doi.org/10.1097/00001721-199404000-00016.
    10.1097/00001721-199404000-00016
  32. Bunge, S.; Wedemann, H.; David, D.; Terwilliger, D.J.; van den Born, L.I.; Aulehla-Scholz, C.; Samanns, C.; et al. "Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa". Genomics 17 1 (1993): 230-233. http://dx.doi.org/10.1006/geno.1993.1309.
    10.1006/geno.1993.1309
  33. David, Dezso; Rosa, Humberto A. V.; Pemberton, Susan; Diniz, Maria J.; Campos, Manuel; Lavinha, João. "Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B". Human Mutation 2 5 (1993): 355-361. http://dx.doi.org/10.1002/humu.1380020506.
    10.1002/humu.1380020506
  34. David, D; Marques, R A; Carreiro, M H; Moreira, I; Boavida, M G. "Parental origin of extra chromosomes in persons with X chromosome tetrasomy.". Journal of Medical Genetics 29 8 (1992): 595-596. http://dx.doi.org/10.1136/jmg.29.8.595.
    10.1136/jmg.29.8.595
  35. David, Dezso. "DNA polymorphisms associated with the factor VIII:C gene in the Portuguese population". Gene Geography 6 (1992): 79.
  36. Morais S.; Lima M.; Almeida G; David D.; Sousa S.; Pereira I; Fortuna A.; et al. "Diagnóstico de portadora e pré-natal nas hemofilias: do pedigree à genética". Arquivos de Medicina 4 6 (1992): 236-240.
    Open access • Published
Newsletter article
  1. David, Dezso. "Divulgação do Resumo da Proposta de Projecto de Cooperação Luso-Brasileira "Identificação e Estudo de Alterações Cromossómicas em Anomalias Oculares"", Arquivo Brasileiro de Ofalmologia, 2004, https://doi.org/10.1590/S0004-27492004000200034.
Online resource
  1. David, Dezso; Joana Fino. TAD-Gene Content Tool (TAD-GConTool). 2020. http://dgrct ools-insa.min-saude.pt.
  2. David, Dezso; Joana Fino. CNV-Content Tool (CNV-ConTool). 2020. http://dgrct ools-insa.min-saude.pt.
  3. Programa DGRC - Doenças Genómicas e Rearranjos Cromossómicos. 2015. https://www.facebook.com/DGRC.pt.
Thesis / Dissertation
  1. David, Dezso. "Haemophilias in the Portuguese population: molecular biology of factor VIII and factor IX deficiency". PhD, 1999.
  2. David, Dezso. "Expression of hepato-specific functions in hepatoma cell lines". Master, 1986.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2016/11/11 Identification of two new candidate genes OAF and PVRL1 for Peters anomaly and ectopia lentis. 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2016 Identification and genotype-phenotype correlation of structural chromosomal alterations XVIII Congreso Internacional Avances en Medicina Hospital Civil de Guadalajara
(Guadalajara, Mexico)
2015/11 Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearrangements. 19ª Reunião Anual da Sociedade Portuguesa de Genética Humana
(Porto, Portugal)
2013/06 P1078: Disruption of NUBPL due to balanced translocation [t(3;14)(3q26.33;q14)] increase severity of a family-specific PGK1 mutation. European Human Genetics Conference
(Paris, France)
2008/03/17 Identification of translocation-associated syndromic and isolated ectrodactyly related loci in distal 2q14.1 and proximal 2q14.2 and the corresponding candidate genes.
(Hinxton, United Kingdom)
2007/04/08 Mutações genéticas causadores de hemofilia na população portuguesa. NovoSeven Working Day; IIª Jornada de Hemofilia
(Évora, Portugal)
2007/03/16 Trombofilias e factores de risco trombótico Curso de Genética Cardiovascular: Noções Básicas e Aplicações Clínicas
Sociedade Portuguesa de Cardiologia (Lisboa, Portugal)
2006/11/24 Molecular biology of haemophilias; from the molecular basis to the pathogenesis. Simpósio Bayer Hemofilia
(Heviz, Hungary)
2006/11/09 Clonagem posicional de genes de anomalias congénitas baseada em translocações cromossómicas Clube de Citogenética da 10º Reunião da Sociedade Portuguesa de Genética Humana.
Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2004 The Spectrum of Mutations in 151 Portuguese Haemophilia A Patients and the Molecular Pathogenesis of This Bleeding Disorder. 10º Simpósio Internacional de Trombose e Hemostase
(Porto, Portugal)
2004 Abst 1525/B336: Molecular characterization of a familial translocation associated with peters anomaly. ARVO - Association for Research in Vision and Ophthalmology
(Florida, United States)
2003 Molecular characterization of a familial translocation implicates disruption of histone deacetilase 9 and possible position effect on transforming growth factor beta2 in the pathogenesis of Peters´ anomaly. 7ª Reunião da Sociedade Portuguesa de Genética Humana
(Lisboa, Portugal)
2000 Stable recombinant expression of FVIII variants associated with haemophilia A.
(Póvoa de Varzim, Portugal)
2000 Análise molecular da deficiência de factor XI em famílias portuguesas. I Congresso dos Técnicos de Analise Clínicos e Saúde Publica do INSA
Instituto Nacional de Saúde Doutor Ricardo Jorge (Lisboa, Portugal)
1999 Stable recombinant expression and characterisation of the two haemophilic FVIII variants C329S (CRM-) and G1948D (CRMr). XVIth Congress of the International Society on Thrombosis and Haemostasis
(Washington, DC, United States)
1998 Translocações cromossómicas equilibradas; Objectivos e estratégia da colaboração portuguesa. XXXIV Conferencias de Genética do Instituto de Genética Médica Jacinto de Magalhães; Da Citogenética Clássica à Citogenética molecular
Instituto de Genética Médica Jacinto de Magalhães (Porto, Portugal)
1997 Molecular pathology of factor XI deficiency in the Portuguese population. 8º Simpósio Internacional de Trombose e Hemostase
(Porto, Portugal)
1997 Identification of three novel mutations in hereditary protein S deficiency. 8º Simpósio Internacional de Trombose e Hemostase
(Porto, Portugal)
1996 Genética Molecular de doenças ligadas ao cromossoma X (Hemofilias e Síndroma Oculocerebrorenal). XXXII Conferências de Genética, Instituto de Genética Médica Jacinto de Magalhães
(Porto, Portugal)
1995 Analysis of the moleclar pathology of the oculocerebrorenal syndrome of Lowe. XXX Jornadas Luso-Espanholas de Genética
(Lisboa, Portugal)
1994 Genética molecular das patologias associadas aos factores VIII, IX, VII, X e proteina C. II Congresso da Sociedade Portuguesa de Trombose e Haemostase
(Lisboa, Portugal)
1993 Biologia molecular das hemofilias A e B: base molecular e diagnóstico. 6º Simpósio Internacional de Trombose e Hemostase
(Póvoa de Varzim, Portugal)
1993 Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia A. XIVth Congress of the International Society on Thrombosis and Haemostasis
(New York, United States)
1991 Polimorfismos de DNA nos loci dos factores de coagulação VIII:C e IX em Xq28: implicações para a detecção de portadoras e o diagnóstico pré-natal das hemofilias na população portuguesa. XXVII Conferências de Genética. A Biologia Molecular na Medicina.
(Porto, Portugal)
1988 Biologia molecular dos factores de coagulação na população portuguesa. 2ª Reunião da Sociedade Portuguesa de Genética Humana; 2º Simpósio Luso-Brasileiro de Genética Médica
(Luso, Portugal)
1988 Correlation of methylation with transcription of -fetoprotein and albumine in rat hepatoma cell hibrids. 13ª Reunião Anual da Sociedade Portuguesa de Imunologia, sobre Genes e Regulação da Expressão Genética
(Coimbra, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2018/06/08 - 2018/06/08 Workshop sobre Diálogos sobre a Genética Humana da Dismorfologia (2018/06/08 - 2028/06/08)
Conference (President of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2010 - 2010 Etiology and Pathogenesis of Thrombotic Disorders in the Portuguese Population (2010 - 2010)
Meeting (Co-organisor)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, 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)
Conference (Co-organisor)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1994/10/22 - 1994/10/29 Exposição didáctica Viva a Ciência 94 - à procura dos segredos dos genes (1994/10/22 - 1994/10/29)
Exhibition (Co-organisor)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1992 - 1992 Curso "Biologia Molecular de Trombose e Hemostase (1992 - 1992)
Other (Co-organisor)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2021/04/15 - 2021/04/15 https://pt-br.facebook.com/jornadas.geb/videos/doutor-dezso-david/365062974715761/
Conference
 XIII Jornadas de Genética e Biotecnologia
2012/10/08 - 2012/10/08 Nos últimos anos o conhecimento da base genética de anomalias congénitas e neoplasias tem contribuído para a oferta de soluções para estes problemas de saúde pública. Surgem novos desenvolvimentos em genética humana, incluindo a descoberta de genes implicados em doenças como o cancro, diabetes e doenças cardiovasculares. Tais descobertas contribuem significativamente para a melhoria da saúde das populações.
Seminar
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2005/09/11 - 2005/09/13 Attend the congress and present scientific work.
Meeting
 6th Transgenic Technology Meeting, Barcelona, Espanha (http://wwwuser.cnb.csic.es/~tt2005/welcome.html)
Transgenic Technology Meetings, Spain
2005/08/06 - 2005/08/12 Attend the congress and present scientific work.
Congress
 XXth Congress of the International Society on Thrombosis and Haemostasis
International Society on Thrombosis and Haemostasis Inc, United States
2005/06/25 - 2005/06/30 Attend the conference and present scientific work.
Conference
 2005 FASEB Summer Research Conferences, TGF-ß Superfamily: Signaling and Development, Snowmass Village, Colorado, USA
Federation of American Societies for Experimental Biology, United States
2005/06/17 - 2005/06/17 Attend the course BKDB2005 - Bioinformatics: Knowledge Discovery in Biology
Other
 BKDB2005 - Bioinformatics: Knowledge Discovery in Biology
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2003/07/12 - 2003/07/18 Attend the congress and present scientific work.
Congress
 XIXth Congress of the International Society on Thrombosis and Haemostasis
International Society on Thrombosis and Haemostasis Inc, United States
2003/04/27 - 2003/04/30 Attend the meeting and present scientific work.
Congress
 8th International Human Genome Meeting
HUGO - Human Genome Organisation, United States
2003 - 2003 Attend the meeting and present scientific work.
Conference
 7a Reunião da Sociedade portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana, Portugal
1998/10/07 - 1998/10/10 Attend the meeting and present scientific work.
Congress
 2ª Reunião da Sociedade Portuguesa de Genética Humana, Luso, Portugal
1998/10/07 - 1998/10/10 Attend the symposium and present scientific work.
Symposium
 2º Simpósio Luso-Brasileiro de Genética Médica, Luso, Portugal
1998/05/10 - 1998/05/13 Attend the meeting and present scientific work.
Congress
 30th Annual Meeting of the European Society of Human Genetics, Lisboa, Portugal
1998/01/29 - 1998/01/30 Attend the conference and present scientific work.
Conference
 XXXIV Conferencias de Genética do Instituto de Genética Médica Jacinto de Magalhães; Da Citogenética Clássica à Citogenética Molecular, Porto, Portugal
1997/11/04 - 1997/11/04 Attend the conference
Meeting
 Encontro Científico Inaugural do Departamento de Genética Humana, INSA, Lisboa, Portugal
1997/10/28 - 1997/11/01 Attend the meeting and present scientific work.
Meeting
 47th Annual Meeting of the American Society of Human Genetics
1997/06/26 - 1997/06/28 Attend the symposium and present scientific work.
Symposium
 8º Simpósio Internacional de Trombose e Hemostase
1997/06/26 - 1997/06/28 Attend the meeting and present scientific work.
Meeting
 4ª Reunião Nacional da Sociedade Portuguesa de Trombose e Hemostase, Porto, Portugal
1996/10 - 1996/10 Attend the course - EU YAC Consortium Training Course on Techniques of YAC Manipulation.
Other
 EU YAC Consortium Training Course on Techniques of YAC Manipulation
1996/09/09 - 1996/09/11 Attend the conference and present scientific work.
Conference
 Genoma Humano, Convento de Arrábida, Setúbal, Portugal
1996/04/11 - 1996/04/13 Attend the conference and present scientific work.
Conference
 28th Annual Meeting of the European Society of Human Genetics, Londres, Reino Unido
1996/02/02 - 1996/03/03 Attend the conference and present scientific work.
Conference
 XXVII Conferências de Genética do Instituto de Genética Médica Jacinto de Magalhães; Biologia Molecular e Terapia de Doenças Genéticas, Porto, Portugal
1995/09/21 - 1995/09/23 Attend the meeting and present scientific work.
Meeting
 XXX Jornadas Luso-Espanholas de Genética, Lisboa, Portugal
1995/06/11 - 1995/06/16 Attend the congress and present scientific work.
Congress
 XVth Congress of the International Society on Thrombosis and Haemostasis
1994/06/30 - 1994/07/02 Attend the congress and present scientific work.
Congress
 II Congresso da Sociedade Portuguesa de Thrombose e Hemostase
1994 - 1994 Attend the course Protein Structure and Function
Other
 Protein Structure and Function
Centro de Citologia Experimental, Universidade do Porto, Portugal
1993/09/15 - 1993/09/17 Attend the meeting and present scientific work.
Meeting
 XXVIII Jornadas Luso-Espanholas de Genética, Faro, Portugal
1993/06/04 - 1993/06/09 Attend the congress and present scientific work.
Congress
 XIVth Congress of the International Society on Thrombosis and Haemostasis
International Society on Thrombosis and Haemostasis Inc, United States
1993/04/29 - 1993/05/01 Attend the symposium and present scientific work.
Symposium
 6º Simpósio Internacional de Trombose e Hemostase, Póvoa de Varzim, Portugal
Fórum Hematológico do Norte, Portugal
1992/08/23 - 1992/08/27 Attend the congress and present scientific work.
Congress
 24th Congress of the International Society of Haematology, Londres, Reino Unido
International Society of Haematology, Mexico
1991/10/03 - 1991/10/05 Attend the meeting and present scientific work.
Meeting
 XXVII Jornadas Luso-Espanholas de Genética, Coimbra, Portugal
1991/01/28 - 1991/01/29 Attend the conference and present scientific work.
Conference
 XXVII Conferências de Genética do Instituto de Genética Médica Jacinto de Magalhães; A Biologia Molecular na Medicina, Porto, Portugal
1991 - 1991 Attend the course Molecular Genetic of Eucariotes - Gene Cloning
Other
 Molecular Genetic of Eucariotes - Gene Cloning
Centro de Citologia Experimental, Universidade do Porto, Portugal
1990/05/03 - 1990/05/05 Attend the symposium and present scientific work.
Symposium
 V Simpósio de Hematologia, Coimbra, Portugal
1990/04 - 1990/04 Attend the course European School of Medical Genetics
Other
 European School of Medical Genetics
Istituto Giannina Gaslini, Italy
1989/01 - 1989/01 Attend the course Molecular Basis of Mammalian Gene Activation and Development.
Other
 Molecular Basis of Mammalian Gene Activation and Development
Instituto Gulbenkian de Ciência, Portugal
1988/11/21 - 1988/11/23 Assistir à reunião e apresentar trabalho científico.
Meeting
 13ª Reunião Anual da Sociedade Portuguesa de Imunologia, sobre Genes e Regulação da Expressão Genética
1987/10/05 - 1987/10/07 Attend the conference and present scientific work.
Conference
 XXIII Jornadas Luso-Espanholas de Genética, Lisboa, Portugal
Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Portugal
1986/07/06 - 1986/07/11 Attend the congress and present scientific work.
Congress
 Second European Congress on Cell Biology
1985/05 - 1985/05 Attend the meeting
Other
Centro Hospitalar de Setubal EPE, Portugal
1984/12 - 1984/12 Attend the couse Actualização em Toxicologia Genética.
Other
 Actualização em Toxicologia Genética
Departamento de Genética, Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Portugal

Ad Hoc journal article review

Journal title (ISSN) Publisher
2022 - Current Computational and Structural Biotechnology Journal ELSEVIER
2021/04/28 - 2021/09/19 Frontiers in Genetics, section Human and Medical Genomics Frontiers
2021 - 2021 Computational and Structural Biotechnology Journal ELSEVIER
2020 - 2020 Journal, Human Genetics (0340-6717) Springer Nature (New York, US)
2019 - 2019 Molecular Genetics and Metabolism Elsevier
2015 - 2015 BMC Medical Genetics Springer Nature
2014/01 - 2014/03 BMC Medical Genetics (1471-2350) Springer Nature

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
1997 - 1997 Hemofilias A e B (base molecular; efeito das mutações nos genes dos factores VIII e IX a nível da transcrição, processamento do RNA e proteína; FVIII recombinante; Expressão do factor VIII e aparecimento de inibidores anti-factor VIII. Curso Genética Molecular Clínica (Outros) Hospital de Dona Estefânia, Portugal
1997 - 1997 Outras doenças da coagulação (genética molecular da deficiência do factor XI, da proteína S, a mutação do factor V Leiden e sua importância clínica). Curso Genética Molecular Clínica (Outros) Hospital de Dona Estefânia, Portugal
1997 - 1997 Outras patologias génicas, nomeadamente as que têm um modo de transmissão ligado ao cromossoma X (eg: síndroma óculo-cerebro-renal e imunodeficiência com hiper IgM) Curso Genética Molecular Clínica (Outros) Hospital de Dona Estefânia, Portugal
1997 - 1997 Doenças monogénicas e multifactoriais Curso de Mestrado em Biologia Molecular Humana (Mestrado) Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Portugal
1995 - 1995 Human Diversity in Health and Disease Curso avançado Human Diversity in Health and Disease (Especialização pós-licenciatura) Instituto Gulbenkian de Ciência, Portugal
1992 - 1992 Identificação e caracterização da base molecular das hemofilias A e B Biologia Molecular de Trombose e Hemostase (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1992 - 1992 Detecção indirecta e directa de portadores e diagnóstico pré-natal de hemofilias em Portugal Biologia Molecular de Trombose e Hemostase (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1991 - 1991 Polimorfismo conformacional do DNA em cadeia simples Biologia Molecular - Aplicação às Ciências da Saúde (Outros) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1990 - 1990 A expressão de funções hepato-específicas em híbridos celulares de hepatomas Mestrado em Imunologia (Mestrado) Instituto de Ciências Biomédicas de Abel Salazar, Portugal

Interview (newspaper / magazine)

Activity description Newspaper / Forum
2020/03/23 INSA propõe abordagem pioneira no controlo das doenças genómicas raras Atlas da Saúde
2020/03/21 Investigadores desenvolvem abordagem pioneira para detectar doenças raras nos fetos Lusa / Público
2017/06/08 Instituto Ricardo Jorge aplica novo método para detectar anomalias genéticas
2017 O Instituto Ricardo Jorge está a desenvolver a aplicação de um novo método para identificação de causas genéticas de anomalias congénitas, utilizando uma tecnologia de ponta denominada de sequenciação pangenómica, ou seja, que abrange o genoma inteiro. Esta abordagem inovadora permite, por exemplo, detetar alterações cromossómicas, até agora desconhecidas, e que estão na origem de graves doenças raras, o que contribuirá para um melhor diagnóstico clínico e aconselhamento dos familiares dos doentes. Instituto Nacional de Saúde Doutor Ricardo Jorge - Noticias

Journal scientific committee

Journal title (ISSN) Publisher
2021 - 2021 Frontiers in Genetics, section Human and Medical Genomicsis Frontiers

Mentoring / Tutoring

Topic Student name
2020/12 - 2020/12 Specific internship of the Medical Intern of General and Familial Medicine on Whole Genome Sequencing and Medical Genomics, Joana da Cunha Paiva
2018 - 2018 Specific internship of the Medical Intern of Medical Genetics, João Nuno Parente Freixo
2006/04/10 - 2007/04/10 Internship - Estudo das causas e mecanismos de doenças genéticas da coagulação e doenças genómicas Joana Maria Coelho Amado de Azevedo