Instituto Nacional de Saúde Dr. Ricardo Jorge Av.ª Padre Cruz


Centro de Genética Humana (89)



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Centro de Genética Humana (89)
Artigos em revistas internacionais


  1. Amaral MD (2005) Processing of CFTR: Traversing the cellular maze. how much CFTR needs to go through to avoid cystic fibrosis? Pediatr Pulmonol 39, 479-491.




  1. da Paula AC, Ramalho AS, Farinha CM, Cheung J, Maurisse R, Gruenert D, Ousingsawat J, Kunzelmann K, Amaral MD (2005) Characterization of novel airway submucosal gland cell models for cystic fibrosis studies. Cell Physiol Biochem 15, 251-262.




  1. Englmann A, Clarke LA, Christan S, Amaral MD, Zink D (2005) The replication timing of CFTR and adjacent genes. Chromosome Res 13, 183-194.


  1. Farinha CM, Amaral MD (2005) Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin. Mol Cell Biol 25, 5242-5252.




  1. Ferreira HA, Feliciano N, Graham DL, Clarke LA, Amaral MD, Freitas PP (2005). Rapid DNA hybridization based on AC field focusing of magnetically labeled target DNA. Appl Phys Lett 87, 013901/1-3.




  1. Ferreira HA, Graham DL, Feliciano N, Clarke LA, Amaral MD, Freitas PP (2005). Detection of cystic fibrosis related DNA targets using AC field focusing of magnetic labels and spin valve sensors. IEEE Trans Magnetics 41, 4140-4142.




  1. Graham DL, Ferreira HA, Feliciano N, Freitas PP, Clarke LA, Amaral MD (2005) Magnetic field-assisted DNA hybridisation and simultaneous detection using micron-sized spin-valve sensors and magnetic nanoparticles. Sens Actuators B Chem 107, 936-944.




  1. Inácio A, Silva AL, Romão L (2005). Mechanisms of the human beta-globin mRNA stability (Review). Journal of Biological Sciences, 5:21-32.




  1. J. S. Leite, G. Isidro, M. Martins, F. Regateiro, O. Albuquerque, P. Amaro, J. M. Romaozinho, G. Boavida and F. Castro-Sousa (2005). “Is prophylactic colectomy indicated in patients with MYH-associated polyposis?” Colorectal Disease, 7, 327–331.




  1. Lagae L, Wirix-Speetjens R, Liu C-X, Laureyn W, Borghs G, Harvey S, Galvin P, Ferreira HA, Graham DL, Freitas PP, Clarke LA, Amaral MD (2005) Magnetic biosensors for genetic screening of cystic fibrosis. IEE Proc-Circuits Devices Syst 152, 393-400.




  1. Laner A, Goussard S, Ramalho AS, Schwarz T, Amaral MD, Courvalin P, Schindelhauer D, Grillot-Courvalin C (2005) Bacterial transfer of large functional genomic DNA into human cells. Gene Ther 12, 1559-72.




  1. Madureira PA, Matos P, Soeiro I, Dixon LK, Simas JP, Lam EW. (2005). Murine gamma-herpesvirus 68 latency protein M2 binds to Vav signaling proteins and inhibits B-cell receptor-induced cell cycle arrest and apoptosis in WEHI-231 B cells. J Biol Chem. 280, 37310-37318.




  1. Martins R, Picanço I, Nunes B, Romão L, Faustino P (2005). HFE gene mutations are extremely rare in western sub-saharian Africa. Annals of Hematology, 84:686-688.




  1. Matos P, Jordan P (2005). Expression of Rac1b stimulates NF-kappaB-mediated cell survival and G1/S progression. Exp Cell Res. 305, 292-299




  1. Mendes F, Wakefield J, Barroso M, Penque D, Bebok Z, Bachhuber T, Kunzelmann K, Amaral MD (2005) Establishment and characterization of a novel polarized MDCK epithelial cellular model for CFTR studies. Cell Physiol Biochem 16: 281-90.




  1. Pereira L, Gonçalves J, Goios A, Rocha T, Amorim A (2005). Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring. Int J Androl 28:241-247.



  1. Silva MJ, Costa P, Dias A, Valente M, Louro H, Boavida MG (2005) Comparative analysis of the mutagenic activity of oxaliplatin and cisplatin in the hprt gene of CHO cells. Environ Mol Mutag, 46: 104-115.




  1. Vieira L, Marques B, Cavaleiro C, Ambrosio AP, Jorge M, Neto A, Costa JM, Junior EC, Boavida MG (2005). Molecular cytogenetic characterization of rearrangements involving 12p in leukemia. Cancer Genet Cytogen. 157, 134-139.



Artigos em revistas nacionais


  1. Gonçalves J (2005). A genética no intersexo. Nascer e Crescer 14: S208-217




  1. Lavinha J (2005) Actualidade de um voto de vencida na era dos choques. Ex-Aequo 12: 121-126.




  1. Lavinha J (2005) Integração da farmacogenética e da farmacogenómica na personalização da terapêutica medicamentosa. Revista de Saúde Amato Lusitano 9(21): 7-11.



Resumos de comunicações (orais ou em forma de poster):


  1. Almendra V, Armandina Miranda, Paula Faustino, Maria Teresa Seixas (2005). Detecção e caracterização de variantes de hemoglobina raras e neutras por cromatografia de alta eficiência em fase reversa (RP-HPLC). 4º Encontro Nacional de Cromatografia, Universidade de Évora. (P)




  1. Alves P, A. Simas, G. da Costa, AV. Coelho, D. Penque (2005) Proteomics Analysis of F508del-CFTR Trafficking Defect. 9th Annual Meeting of Portuguese Human Genetics Society & 3rd Annual Meeting of Portuguese Proteomics Network-ProCura, 10-12 Nov, Cascais. P83.




  1. Alves P, Simas A, da Costa G, Coelho AV, Penque D (2005) Investigating by Proteomics the Trafficking Defect of Most Frequent Mutant in Cystic Fibrosis. I Congress of the Spanish Proteomics Society, Fev 14-15, Cordoba, Spain. PO-129.




  1. Alves P, Simas A, da Costa G, Coelho AV, Penque D (2005) Candidate proteins involved in the trafficking defect of F508del-CFTR: a proteomic approach. HUPO 4th Annual World Congress-From Defining the proteome to understanding function, Aug 29-Sept 1, Munich, Germany. Abs 23.2.




  1. Carvalho-Oliveira I, Luider T, Demmers T, Penque D, Scholte BJ (2005) Identification of Proteins by Mass Spectrometry on Laser Dissected Cells from Mouse Proximal Bronchial Epithelium. HUPO 4th Annual World Congress-From Defining the proteome to understanding function, Aug 29-Sept 1, Munich, Germany. Abs14.8.




  1. Carvalho-Oliveira I, Luider T, Demmers T, Penque D, Scholte BJ (2005) Identification of Proteins by Mass Spectrometry on Laser Dissected Cells from Mouse Proximal Bronchial Epithelium. HUPO 4th Annual World Congress-From Defining the proteome to understanding function, Aug 29-Sept 1, Munich, Germany. Abs14.8.




  1. Carvalho-Oliveira I, Scholte BJ, Penque D (2005) Assessing Lung Protein Patterns in Cystic Fibrosis transgenic mice using two dimensional Gel electrophoresis. 9th Annual Meeting of Portuguese Human Genetics Society & 3rd Annual meeting of Portuguese Proteomics Network-ProCura, 10-12 Nov, Cascais. P 82.




  1. Carvalho-Oliveira, T. Luider, J. Demmers, D. Penque, B. J. Scholte (2005) Mass spectrometry identification on proteins from mouse proximal bronchial epithelial cells obtained by laser-microdissection microscopy. 9th Annual Meeting of Portuguese Human Genetics Society & 3rd Annual meeting of Portuguese Proteomics Network-ProCura, 10-12 Nov, Cascais. OC17.




  1. Clarke LA Starner TD, Scheetz TE, Brown, Braz CS, McCray PB, Amaral MD (2005) Profiling Gene Expression in Pooled Human Nasal Epithelial Cells with Custom Airway Arrays. 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 177, p.250.




  1. Correia H. 2005. Síndrome de Down – Verdades, equívocos e omissões. Ciclo de Reuniões do Serviço de Obstetrícia e Ginecologia Hospitalar. Centro Hospitalar do Funchal. Madeira. (Palestra).




  1. David D, Ventura C, Kemball-Cook G, Diniz MJ, Antunes M, Tavares A, Araújo F, Morais S, Campos M, Moreira I, Lavinha João (2005) The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 163 Portuguese Patients. Journal of Thrombosis and Haemostasis; 3 Supplement 1: P0223.




  1. Dezsö David, Joana Cardoso, Bárbara Marques, Ramira Marques, Eduardo D. Silva, Heloísa Santos, Maria G. Boavida (2005) Molecular characterization of a familial translocation implicates possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly. Transgenic Research, 14,(4): Abstract 94.




  1. Dezsö David, Joana Cardoso, Bárbara Marques, Ramira Marques, Eduardo D. Silva, Heloísa Santos, Maria G. Boavida (2005) Molecular characterization of a familial translocation implicates possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly. FASEB Summer Research Conferences, TGF-β Superfamily: Signaling and Development, Abstract 16.




  1. Farinha CM, Neto M, Amaral MD (2005) Biochemical and Functional Characterization of CFTR Glycosylation-Null Mutants. 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 13, p.194.




  1. Farinha CM, Neto M, Amaral MD (2005) Biochemical and Functional Characterization of CFTR Glycosylation-Null Mutants. 28th European Cystic Fibrosis Conference. Creta (Grécia). 22-25 Jun. J Cystic Fibrosis 4 (S1), Abs 41.




  1. Furtado J. 2005. Principais Anomalias Cromossómicas Humanas: Incidência, Prevalência e Mecanismos de Formação. II Congresso do Departamento das Ciências e Tecnologias Laboratoriais e Intervenção Comunitária. 16 a 20 de Maio. ESTeSL Lisboa. (Palestra).




  1. Gomes S, Cristina Ferreira, Isabel Picanço, Filomena Seuanes, Armandina Miranda, Maria Teresa Seixas, Luísa Romão, Paula Faustino (2005). “Nova mutação no gene alfa2-globina origina variante de hemoglobina associada a fenótipo alfa-talassémico”. III Congresso de Análises Clínicas e Saúde Pública do INSA, Lisboa, Portugal.(P)




  1. Gomes S, Cristina Ferreira, Maria do Céu Silva, Isabel Picanço, Armandina Miranda, Maria Teresa Seixas, Mafalda Oliveira, Luísa Romão, Paula Faustino (2005). Two novel hemoglobin variants: Hb Évora (alpha2-35 (B16), Ser>Pro) and Hb São Julião (beta-81 (EF5), Leu>Phe). 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais.(P)




  1. Gonçalves J, Friães A, Toste Rêgo A, Aragüés JM, Moura LF, Mirante A, Mascarenhas MR, Taylor Kay T, Lopes L, Guerra S, Galvão-Teles A (2005). Phenotype-genotype correlations in 26 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ESPE/LWPES 7th Joint Meeting Paediatric Endocrinology, 21-24 Setembro, Lyon. Hormone Research 64 (S1); Abs. P3-1125: 327.




  1. Gonçalves V and Jordan P (2005). Regulation of alternative splicing of the small GTPase Rac1, 9ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Cascais 10-12 November.




  1. Gonçalves V and Jordan P (2005). Regulation of alternative splicing of the small GTPase Rac1, RNA2005 -2nd Meeting for Portuguese RNologists, Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon 16 December.




  1. Isidro G (2005) “Pesquisa de mutações germinais em genes críticos para o desenvolvimento de cancro colo-rectal familiar”, III Congresso de Análises Clínicas do INSA.




  1. Isidro G, Ofélia Antunes, José Soares, Peter Jordan, Maria Guida Boavida (2005) “Pesquisa de Mutações no Gene LKB1 em Doentes Portugueses com Sindrome de Peutz Jeghers”, 9ª Reunião Anual da SPGH, Cascais, 10 a 12 de Novembro.




  1. Lavinha J, Paula Faustino, Rute Martins, Deszo David (2005). Population genetics helps deciphering the aetiological architecture of Mendelian haematological disorders. From Biobanks to Biomarkers: translating the potential of human population genetics research to improve the quality of health of the EU citizen, Hinxton, UK. (P)




  1. Lavoura N, Gonçalves J, Matoso E, Venâncio M, Lopes Dias A, Mascarenhas A, Ramos L, Marques Carreira I (2005). Phenotypic variability associated with an unbalanced X/Y translocation transmitted through females in a three generation family. Europ J Hum Genet 13(Suppl 1); Abs. P0399: 165.




  1. Louro H, Silva MJ, Costa P, Dias A, Sousa AC, Pinheiro I, Boavida MG (2005) Poly(ADP-ribose)polymerase deficiency alters the spectrum of the MNU-induced mutations in mouse testis. PARP2005: Bench to Bedside, 5-7 Outubro, Newcastle upon Tyne, UK (prémio de melhor poster).




  1. Louro H, Silva MJ, Costa P, Sousa AC, Dias A, Marques B, Boavida MG. Mutagenic effects of poly(ADP-ribose) polimerase deficiency in transgenic mice. Fragilome – Chromosomal instability, fragile sites and cancer. 2005. Heidelberg, Alemanha. (poster).




  1. Louro H, Silva MJ, Costa P, Sousa AC, Dias A, Marques B, Boavida MG (2005) Mutagenic effects of poly (ADP-ribose) polymerase deficiency in transgenic mice. Fragilome - Chromosomal instability, fragile sites, and cancer, 17-19 Fevereiro, Heidelberg, Alemanha.




  1. Louro H, Silva MJ, Pinheiro I, Costa P, Sousa AC, Dias A, Boavida MG (2005) A deficiência em poli(ADP-ribose) polimerase-1 in vivo causa um aumento de delecções/inserções em resposta a lesões alquilantes do DNA. Reunião Anual da Sociedade Portuguesa de Genética Humana, 10-12 Outubro, Cascais, Portugal (seleccionado para comunicação oral).




  1. Marques B, Boieiro F, Silva M, Simão L, Almeida R, Santos S, Afonso S, Medeira A, Correia H, Boavida MG. 2005. Identification of Supernumerary Marker Chromosome in a Newborn. Chromosome Research 13; Suppl 1: 1.122 (67). (abstract publicado).




  1. Marques B, F Boieiro, C Alves, L Simão, M Silva, R Almeida, A Bettencourt, T Tomé, MT Lourenço, F Chaves, M Serelha, H Correia. 2005. Caracterização por Citogenética Molecular de um Cromossoma Marcador Supranumerário Analfóide em Mosaico. 9ª Reunião Anual da SPGH, Cascais. (poster).




  1. Martins R, Anabela Morais, Alexandra Dias, Isabel Soares, Cristiana Rolão, Isabel Picanço, Susana Gomes, Armandina Miranda, Teresa Seixas, Gabriel Olim, Fernanda Rego, José L. Ducla-Soares, Luísa Romão, Paula Faustino (2005). Prevalence of HFE mutations in sickle cell disease. First Congress on the International BioIron Society, Praga, República Checa. (P)




  1. Martins R, Anabela Morais, Alexandra Dias, Isabel Soares, Cristiana Rolão, Baltazar Nunes, Isabel Picanço, Susana Gomes, Armandina Miranda, Teresa Seixas, Fernanda Rego, José L. Ducla-Soares, Gabriel Olim, Luísa Romão, Paula Faustino (2005). UDP-glucuronosyltransferase 1A gene promoter polymorphism influences cholelithiasis in sickle cell disease. 15th Meeting of the European Association for Red Cell Research, Murten, Suiça. (CO)




  1. Martins R, Anabela Morais, Alexandra Dias, Lígia Braga, Isabel Soares, Cristiana Rolão, Baltazar Nunes, Isabel Picanço, Susana Gomes, Armandina Miranda, Teresa Seixas, Fernanda Rego, José L. Ducla-Soares, Gabriel Olim, Luísa Romão, Paula Faustino (2005). Genetic modifiers of morbidity in sickle cell disease. 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais.(CO).




  1. Martins R, Isabel Picanço, Luísa Romão, Paula Faustino (2005). A novel nonsense mutation Y138X in HFE gene associated with a hereditary hemochromatosis phenotype. First Congress on the International BioIron Society, Praga, República Checa. (P)




  1. Matos S, Ferreira J, Bicho M, and Jordan P (2005). Hipertensão familiar: identificação de doentes com síndroma de Gordon por pesquisa de mutações no gene WNK4. 2ª Reunião Científica da Sociedade Portuguesa de Hipertensão, Carvoeiro, 17-19 Febuary 2005.




  1. Mendes AI, Rute Martins, Isabel Picanço, Susana Gomes, A. Robalo Nunes, Jorge Esteves, Rita Fleming, Luísa Romão, Paula Faustino (2005). Mutation analysis of HFE, TFR2, HJV and HAMP genes in 106 Portuguese iron overloaded patients: identification of four novel mutations. 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais. (P)




  1. Mendes AI, Rute Martins, Isabel Picanço, Susana Gomes, Luísa Romão, Paula Faustino (2005). Novel HFE mutations L46W and Y230F identified in non-C282Y iron overloaded patients. First Congress on the International BioIron Society, Praga, República Checa. (P)




  1. Miranda A, Paula Faustino, Maria do Céu Silva, Ana Batalha Reis, Ana Margarida Medeiros, Vanda Almendra, Manuela Manso, Isabel Picanço, Ermelinda Pedroso, Esmeraldina Correia-Júnior, Maria Teresa Seixas (2005). A new neutral alpha chain haemoglobin variant found in association with Hb Malmö in a Portuguese family. 15th Meeting of the European Association for Red Cell Research, Murten, Suiça.(P)



  1. Moreira I, Gago T, Diniz MJ, Tavares A, Santos HA, Braga L, Fernandes H, David D. (2005) Factor VII deficiency in patients of Portuguese origin – four novel mutations. Annual Meeting of the Portuguese Society of Human Genetics, Abstract 41.




  1. Morgado A, Isabel Picanço, Armandina Miranda, Teresa Seixas, Luísa Romão, Paula Faustino (2005). Nova mutação pontual na posição -80 (G>A) do promotor do gene da delta-globina associada a delta-talassemia. 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais.(P)




  1. Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proença C, Rocha T, Correia SC, Jorge S, Neves A, Paula Soares A, Nunes J, Calhaz-Jorge C, Amorim A, Plancha CE, Gonçalves J. (2005). A novel methodology for characterizing the AZFc region of the Y chromosome reveals new recombination mechanisms linked to spermatogenic failure. XXIII Jornadas de Estudos da Reprodução da Sociedade Portuguesa de Medicina da Reprodução, 3-5 Novembro 2005, Coimbra.




  1. Navarro-Costa P, Proença C, Rocha T, Plancha C, Gonçalves J (2005). Partial deletions in the AZFc region of the Y chromosome in fertile and infertile Portuguese men – Preliminary results. Portugaliae Genetica, 17-19 Maio, Porto.




  1. P. Navarro-Costa, L. Pereira, C. Alves, L. Gusmão, C. Proença, T. Rocha, S. Correia, S. Jorge, A. Neves, A.P. Costa, J. Nunes, C. Calhaz-Jorge, A. Amorim, C.E. Plancha and J. Gonçalves (2005). From characterizing the highly repetitive AZFc region sequence motifs of the Y chromosome to unequal sister chromatid exchange models: a fertility issue. 9ª Reunião Anual da SPGH, Cascais, Portugal.




  1. Pacheco P et al (2005) Novel prion disease mutation R136S has an incomplete penetrance dependent upon codon 129 trans allelle. Portuguese Society of Human Genetics, 9th Edition, Cascais (poster).




  1. Passos Coelho JL, M Sebastião, P Gameiro, A Reichert, L Vieira, I Ferreira, N Miranda, A Guimarães, F Leal da Costa, MM Abecasis (2005) Trombocitopénia amegacariocítica congénita – uma nova mutação missense no gene c-mpl e recuperação hematopoiética após terceiro transplante não-relacionado de células do cordão umbilical. Reunião Anual da Sociedade Portuguesa de Hematologia (Espinho, 17-19 Novembro 2005).




  1. Pereira F, Kong J, Silva AL, Faustino P, Liebhaber SA, Romão, L (2005) The Human alpha- and beta-globin mRNAs present comparable nonsense-mediated decay (NMD) profiles that contradict the ‘-50 Rule’. 10th Annual Meeting of the RNA Society. Banff, Canada.




  1. Pinheiro I, Dias A, Sousa AC, Louro H, Silva MJ (2005) A deficiência em poli(ADP-ribose) polimerase-1 modifica a resposta celular a agentes anti-mutagénicos. Reunião Anual da Sociedade Portuguesa de Genética Humana, 10-12 Outubro, Cascais, Portugal.




  1. Pissarra LS, Amaral MD (2005) Impact of NBD1 Mutations on CFTR Processing and Function. 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 49, p.206.




  1. Puente M, B Marques, I Reis, F Lima, I Ribeiro, L Vieira (2005) Identificação de nova translocação cromossómica em leucemia mielóide aguda (M2) secundária ao tratamento de leucemia promielocítica aguda com inibidores da topoisomerase II. Reunião Anual da Sociedade Portuguesa de Hematologia (Espinho, 17-19 Novembro 2005).




  1. Puente M, Marques B, Reis I, Lima F, Ribeiro I, Vieira L. Identificação de uma nova translocação cromossómica em leucemia mielóide aguda (M2) secundária ao tratamento de leucemia promieloítica aguda com inibidores da topoisomerase II. Reunião Anual da Sociedade Portuguesa de Hematologia. 2005. Espinho, Portugal. (poster).




  1. Rakonczay Z, Hegyi P, M. Hasegawa M, Alton EW, Da Paula AC, Amaral MD, Argent BE, Gray MA (2005) CFTR Upregulates Resting and cAMP-Stimulated Apical Cl-/HCO3- Exchange Activity in Polarised Pancreatic Duct Cells. 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 36, p.202.




  1. Ramalho AS, Farinha CM, Mendes F, Neto M, Amaral MD (2005) Lack of N-Terminus Causes Major Impairment on CFTR Processing But Does Not Abolish Function. 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 51, p.207.




  1. Regalado A, Salgado I, Roxo-Rosa M, Margarida D. Amaral MD (2005) Can Compatible Solutes from Extremophile Organisms Restore the Basic Defect of F5085del-CFTR? 19th Annual North American Cystic Fibrosis Conference. Baltimore (MD, EUA). 20-23 Out. Pediatr Pulmonol S28, Abs 10, p. 193.




  1. Silva AL, Morgado A, Faustino P, Romão L (2005) Study of the sequence background effect on the mechanism by which AUG-proximity of nonsense codons inhibits NMD. EMBO-Workshop. Arolla, Switzerland.




  1. Silva M., H. Correia, L. Simão, F. Boieiro, B. Marques, P. Ambrósio, A. Sousa, R. Marques, C. Alves, J. Furtado, C. Ventura, R. Almeida, A. Lacerda, A. Melo, I. Victorino, M.G. Boavida. 2005. Ventriculomegália Cerebral Fetal: Resultados do Centro de Genética Humana do Instituto Nacional de Saúde. VII Reunião de Núcleos / Centros de Diagnóstico Pré-Natal, Viana do Castelo. (comunicação oral).




  1. Silva M., H. Correia, L. Simão, F. Boieiro, B. Marques, P. Ambrósio, A. Sousa, R. Marques, C. Alves, J. Furtado, C. Ventura, R. Almeida, A. Lacerda, A. Melo, I. Victorino, M.G. Boavida. 2005. Diagnóstico Pré-Natal Cromossómico de Hidropsia Fetal: Experiência do Centro de Genética Humana do Instituto Nacional de Saúde Dr. Ricardo Jorge. VII Reunião de Núcleos / Centros de Diagnóstico Pré-Natal, Viana do Castelo. (comunicação oral).




  1. Silva MJ, Gil O, Costa P, Sousa AC, Cardoso P, Pedro L, Dias A, Nogueira P, Marinho-Falcão J, Boavida M (2005) Chromosome aberrations in residents exposed to uranium mines waste. 35th Annual Meeting of the European Environmental Mutagen Society: Environment and human genetic disease – Causes, mechanisms and effects, 3-7 Julho, Kos, Grécia.




  1. Silva MJ, Louro H, Costa P, Sousa AC, Clarke L, Boavida MG (2005) Comparative analysis of the effect of in vivo PARP-1 deficiency and PARP inhibition on radiation-induced chromosome instability. 35th Annual Meeting of the European Environmental Mutagen Society: Environment and human genetic disease – Causes, mechanisms and effects, 3-7 Julho, Kos, Grécia.




  1. Silva MJ, Louro H, Pinheiro I, Costa P, Sousa AC, Dias A, Boavida MG (2005) Effect of poly (ADP-ribose) polymerase deficiency in the spectrum of mutations induced by MNU in transgenic mice. 35th Annual Meeting of the European Environmental Mutagen Society: Environment and human genetic disease – Causes, mechanisms and effects, 3-7 Julho, Kos, Grécia.




  1. Simão L, Alves AC, Marques B, Silva M, Boieiro F, Furtado J, Victorino I, Fernandes R, Ferreira P, Santos P, Mendinhos G, Carreiro MH, Correia H, Boavida MG. 2005. Prenatal diagnosis of a fetus with two de novo structural chromosome abnormalities. Chromosome Research 13; Suppl 1: 7.37(136). (abstract publicado).




  1. Sousa A, Ávila M, Santos MR, Serafim S, Marques B, Ferrand AB, Medeira A, Cordeiro I. Tetrassomia e octassomia parcial 15q11-13: marcador supranumerário inv dup(15) e fenótipo Prader-Willi. 9ª Reunião da Sociedade Portuguesa de Genética Humana. 2005. Cascais. (poster).




  1. Sousa A, Ávila M, Santos MR, Serafim S, Marques B, Ferrand AB, Medeira A, Cordeiro I. Tetrassomia e octassomia parcial 15q11-13: marcador supranumerário inv dup(15) e fenótipo Prader-Willi. 9ª Reunião da Sociedade Portuguesa de Genética Humana. 2005. Cascais. (poster).




  1. Vasconcelos-Espada F, Bonet B, Gonçalves J, da Fonseca Marcelo, Rodrigues C (2005). Intersex outpatient clinic girls 46,XY – casuistic and clinic. ESPE/LWPES 7th Joint Meeting Paediatric Endocrinology, 21-24 Setembro, Lyon. Hormone Research 64 (S1); Abs. P3-1107: 322.




  1. Vieira L (2005). Translocações cromossómicas em leucemia. Mesa redonda “Diagnóstico laboratorial do cancro”. III Congresso de Análises Clínicas e Saúde Pública (Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, 2-3 Junho.




  1. Vieira L, Ambrósio AP, Geraldes MC, Marques B, Antunes O, Silva E, Nascimento R, Martinho A, Silva C, Acosta MJ, Pereira JM, Reis AB, Ramos S, Boavida MG, Jordan P, Júnior EC (2005). Implementação de nova abordagem molecular eficaz para a detecção das translocações t(14;18)(q32;q12) e t(11;14)(q13;q32) em linfomas não-Hodgkin. Reunião Anual da Sociedade Portuguesa de Hematologia, Espinho, 17-19 Novembro de 2005.




  1. Vieira L, E Silva, A P Ambrósio, B Marques, M Jorge, A M Pereira, A S António, P Lúcio, M Gomes da Silva, P Jordan (2005). Mutações na cinase de tirosina JAK2 em doentes com trombocitémia essencial. 9ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Cascais 10-12 November 2005.




  1. Vieira L, Silva E, Ambrósio P, Marques B, Jorge M, Pereira AM, António AS, Lúcio P, Gomes da Silva M, Jordan P. Mutações na cinase de tirosina JAK2 em doentes com trombocitémia essencial. 9ª Reunião da Sociedade Portuguesa de Genética Humana. 2005. Cascais. (poster).


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