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Identification

Personal identification

Full name
Ana Isabel Fernandes Grangeia

Citation names

  • Grangeia, Ana

Author identifiers

Ciência ID
7F1A-62F9-5E5F
ORCID iD
0000-0002-3183-9154

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Intermediate (B1) Advanced (C1) Intermediate (B1) Intermediate (B1)
Spanish; Castilian Intermediate (B1) Advanced (C1) Intermediate (B1) Intermediate (B1)
Education
Degree Classification
2018/01 - 2022/09
Concluded
 Especialista em Genética Médica (Título de especialista)
Major in Genética Médica
Centro Hospitalar Universitário de São João, Portugal
2009 - 2016
Concluded
 Medicina (Mestrado integrado)
Universidade do Porto Faculdade de Medicina, Portugal
"Prevalence of Cystic Fibrosis and spectrum of CFTR gene mutations in a Portuguese population" (THESIS/DISSERTATION)
 15 valores
2008
Concluded
 Biologia Humana (Doutoramento)
Major in Sem especialidade
Universidade do Porto Faculdade de Medicina, Portugal
"Estudo das Mutações e da Expressão do Gene Cftr na Espermatogénese Humana" (THESIS/DISSERTATION)
1997 - 2001
Concluded
 Biologia (Licenciatura)
Anne and Max Tanenbaum Community Hebrew Academy of Toronto, Canada

Universidade de Aveiro, Portugal
Affiliation

Other Careers

Category
Host institution 		Employer
2003 - 2016 Técnico Superior (Técnico Superior) Universidade do Porto Faculdade de Medicina, Portugal

Others

Category
Host institution 		Employer
2023/05 - Current Assistente Hospitalar em Genética Médica Centro Hospitalar Universitário de São João, Portugal
2019 - Current Docente Auxiliar Convidado Universidade do Porto Faculdade de Medicina, Portugal
2018/01/01 - 2022/09 Médica- Interna Formação Específica de Genética Médica Centro Hospitalar Universitário de São João, Portugal
2017/01/01 - 2017/12/31 Formação Geral do Internato Médico. Centro Hospitalar Universitário de São João, Portugal
Projects

Contract

Designation Funders
2013/05/01 - 2014/07/31 Estudo da prevalência da Fibrose Cística e caracterização das mutações no gene CFTR na população Portuguesa
EXPL/DTP-EPI/0376/2012
Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Unidade de Investigação e Desenvolvimento Cardiovascular, Portugal

Centro Hospitalar Universitário de São João, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2011/01/01 - 2013/12/31 Projecto Estratégico - UI 51 - 2011-2012
PEst-C/SAU/UI0051/2011
Universidade do Porto Unidade de Investigação e Desenvolvimento Cardiovascular, Portugal

Hospital de São João, Portugal

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

Publications

Conference abstract
  1. Grangeia, A; Joana Marques, CJ; Fernandes, S; Leao, M. "A case of germ-line mosaicism in Tuberous Sclerosis". 2019.
  2. Grangeia, A; Sa, R; Carvalho, F; Martin, J; Girodon, E; Ferraz, L; Barros, A; Sousa, M. "Molecular characterisation of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens". 2007.
  3. Grangeia, A; Carvalho, F; Girodon, E; Silva, J; Sousa, M; Barros, A. "CFTR rearrangements in CAVD patients". 2006.
Conference poster
  1. Fernandes da Rocha, Diogo; Ramalho, Carla; Grangeia, Ana. Corresponding author: Fernandes da Rocha, Diogo. "Unravelling the c.295C>T variant in FANCA: Examining Its Ubiquity and Diverse Prenatal Manifestations among the Romani Iberian Population". Paper presented in 27º Reunião anual - SPGH, 2023.
  2. Fernandes da Rocha, Diogo; Ramalho, Carla; GUIMARÃES, SUSANA; Grangeia, Ana. Corresponding author: Fernandes da Rocha, Diogo. "Desafios diagnósticos na atresia intestinal pré-natal: um caso incomum de falso positivo no rastreio bioquímico neonatal e variabilidade fenotípica associada à anemia de Fanconi". Paper presented in Reunião Anual da Associação Portuguesa em Diagnóstico Pré-natal, 2023.
  3. Fernandes da Rocha, Diogo; Grangeia, Ana; Louro, Pedro. Corresponding author: Fernandes da Rocha, Diogo. "Haploinsufficiency in MYH7 as a possible mechanism of pathogenicity in a Portuguese family with Hypertrophic Cardiomyopathy". Paper presented in European Human Genetics Conference 2023, 2023.
Journal article
  1. Pereira-Macedo M; Grangeia A; Braga AC; Rolim R; Matias A. "Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.". Cerebellum (London, England) (2024): http://europepmc.org/abstract/med/39133430.
    10.1007/s12311-024-01728-4
  2. Leite de Almeida L; Grangeia A; Sampaio L; Vilan A. "COL4A1 and Intraventricular Hemorrhage.". Acta medica portuguesa (2024): http://europepmc.org/abstract/med/38815243.
    10.20344/amp.20515
  3. Patrícia Amoedo; Ana Grangeia; Lígia Peralta; Alberto Mota. "Caso de epidermólise bolhosa distrófica com variante rara do gene COL7A1". Anais Brasileiros de Dermatologia (Versão em Português) (2024): https://doi.org/10.1016/j.abdp.2024.02.012.
    10.1016/j.abdp.2024.02.012
  4. Fernandes da Rocha D; Quental R; Grangeia A; Pinto Moura C. "A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported.". Clinical dysmorphology (2024): http://europepmc.org/abstract/med/38818818.
    10.1097/mcd.0000000000000501
  5. Miragaia P; Grangeia A; Rodrigues E; Sousa R; Ribeiro A. "Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.". Cureus (2024): http://europepmc.org/abstract/med/38410311.
    10.7759/cureus.53043
  6. Vilan, Ana; Grangeia, Ana; Ribeiro, José Mendes; Cilio, Maria Roberta; de Vries, Linda S.. "Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series". Neuropediatrics 55 01 (2023): 032-041. http://dx.doi.org/10.1055/a-2190-9521.
    10.1055/a-2190-9521
  7. André Aires Fernandes; Ana Grangeia; Leonor Dias; Joana Guimarães. "Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene". American Journal of Medical Genetics Part A (2023): https://doi.org/10.1002/ajmg.a.63242.
    10.1002/ajmg.a.63242
  8. Nicolau R; Beirão T; Guimarães F; Aguiar F; Ganhão S; Rodrigues M; Grangeia A; Brito I. "Correction to: Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing.". Pediatric rheumatology online journal (2023): http://europepmc.org/abstract/med/37365641.
    10.1186/s12969-023-00850-7
  9. Nicolau, Rafaela; Beirão, Tiago; Guimarães, Francisca; Aguiar, Francisca; Ganhão, Sara; Rodrigues, Mariana; Grangeia, Ana; Brito, Iva. "Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing". Pediatric Rheumatology 21 1 (2023): http://dx.doi.org/10.1186/s12969-023-00831-w.
    10.1186/s12969-023-00831-w
  10. Moleiro, Ana Filipa; Oliveira, Joana Santos; Grangeia, Ana; Faria, Pedro; Falcão-Reis, Fernando; Magalhães, Augusto; Silva, Sérgio Estrela. "Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series". European Journal of Ophthalmology 34 1 (2023): NP6-NP11. http://dx.doi.org/10.1177/11206721231170406.
    10.1177/11206721231170406
  11. Pereira-Nunes, Joana; Vilan, Ana; Grangeia, Ana; d’Oliveira, Renata. "Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome". Journal of Investigative Medicine High Impact Case Reports 11 (2023): 232470962211506. http://dx.doi.org/10.1177/23247096221150637.
    10.1177/23247096221150637
  12. Sousa, Beatriz; Grangeia, Ana; Pinto, Joel; Santos, Helena; Dória, Sofia. "Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study". (2023):
    10.1097/j.pbj.0000000000000198
  13. Pereira-Nunes J; Ferreras C; Grangeia A; Aguiar F; Rodrigues M; Brito I. "Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis.". Cureus (2023): http://europepmc.org/abstract/med/36788924.
    10.7759/cureus.33613
  14. Vilan, A; Ferreira, MV; Pereira, M; Sampaio, L; Grangeia, A. "Periventricular Heterotopia and Novel FLNA Gene Variant: Clinical and Neuroimaging Clues for an Early Diagnosis". Journal of Neonatology (2023): https://www.authenticus.pt/P-00X-VHF.
    10.1177/09732179221142966
  15. Leitão F; Grangeia A; Pinto J; Passas A; Dória S. "Clinical Findings on Chromosome 1 Copy Number Variations.". Neuropediatrics (2022): http://europepmc.org/abstract/med/35835157.
    10.1055/s-0042-1754162
  16. Gaspar NS; Rocha G; Grangeia A; Soares HC. "Cat-Eye Syndrome: A Report of Two Cases and Literature Review.". Cureus (2022): http://europepmc.org/abstract/med/35911297.
    10.7759/cureus.26316
  17. Pinto MJ; Passos BA; Grangeia A; Guimarães J; Braz L. "Congenital myopathies in adults: A diagnosis not to overlook.". Acta neurologica Scandinavica (2022): http://europepmc.org/abstract/med/35548885.
    10.1111/ane.13632
  18. Nogueira, Mayara; Melo, Cláudia; Grangeia, Ana; Magalhães, Tiago; Soares, Carolina; Dias, Rafael; Fonseca, Jacinta; Sampaio, Mafalda; Sousa, Raquel. "Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante". Revista de Neurología 74 05 (2022): 170. http://dx.doi.org/10.33588/rn.7405.2021068.
    10.33588/rn.7405.2021068
  19. Costa, BC; Grangeia, A; Galvao, J; Vaz, D; Melo, M; Carraca, T; Ramalho, C; Doria, S. "Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses". ANNALS OF DIAGNOSTIC PATHOLOGY (2022): https://www.authenticus.pt/P-00X-GBH.
    10.1016/j.anndiagpath.2022.152059
  20. Madeira, Carolina; Godinho, Gonçalo; Grangeia, Ana; Falcão, Manuel; Silva, Renato; Carneiro, Ângela; Brandão, Elisete; et al. "Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia". Case Reports in Ophthalmology 12 3 (2021): 749-760. http://dx.doi.org/10.1159/000512284.
    10.1159/000512284
  21. Cardoso I; Rodrigues M; Grangeia A; Melão L; Aguiar F; Costa G; Brito I. "Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.". Acta reumatologica portuguesa (2021): http://europepmc.org/abstract/med/34285179.
  22. Esteves-Leandro, João; Torres-Costa, Sónia; Estrela-Silva, Sérgio; Santos-Silva, Renato; Brandão, Elisete; Grangeia, Ana; Fernandes, Susana; et al. "Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant". European Journal of Ophthalmology 32 1 (2021): 664-672. http://dx.doi.org/10.1177/11206721211000000.
    10.1177/11206721211000000
  23. Ferreira, M. J.; Pedro, J.; Salazar, D.; Costa, C.; Aragão Rodrigues, J.; Costa, M. M.; Grangeia, A.; Castedo, J. L.; Carvalho, D.. "ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report". Case Reports in Endocrinology 2020 (2020): 1-5. http://dx.doi.org/10.1155/2020/8848151.
    10.1155/2020/8848151
  24. Godinho, Gonçalo; Madeira, Carolina; Grangeia, Ana; Neves-Cardoso, Pedro; Santos-Silva, Renato; Brandão, Elisete; Carneiro, Ângela; Falcão-Reis, Fernando; Estrela-Silva, Sérgio. "A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia". Ophthalmic Genetics 41 5 (2020): 474-479. http://dx.doi.org/10.1080/13816810.2020.1795888.
    10.1080/13816810.2020.1795888
  25. Torres-Costa, Sónia; Ferreira, Carla Sofia; Grangeia, Ana; Santos-Silva, Renato; Brandão, Elisete; Estrela-Silva, Sérgio; Falcão-Reis, Fernando. "A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens". European Journal of Ophthalmology (2020): 112067212091906. http://dx.doi.org/10.1177/1120672120919064.
    10.1177/1120672120919064
  26. Santos-Silva, Rita; Rosário, Marta; Grangeia, Ana; Costa, Carla; Castro-Correia, Cíntia; Alonso, Isabel; Leão, Miguel; Fontoura, Manuel. "Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism". Journal of Pediatric Endocrinology and Metabolism 32 11 (2019): 1265-1273. http://dx.doi.org/10.1515/jpem-2019-0047.
    10.1515/jpem-2019-0047
  27. Grangeia, Ana; Leão, Miguel; Moura, Carla P.. "Wiedemann-Steiner syndrome in two patients from Portugal". American Journal of Medical Genetics Part A 182 1 (2019): 25-28. http://dx.doi.org/10.1002/ajmg.a.61407.
    10.1002/ajmg.a.61407
  28. Santos-Silva, Rita; Cardoso, Rita; Lopes, Lurdes; Fonseca, Marcelo; Espada, Filipa; Sampaio, Lurdes; Brandão, Carla; et al. "CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort". Hormone Research in Paediatrics 91 1 (2019): 33-45. http://dx.doi.org/10.1159/000497485.
    10.1159/000497485
  29. Grangeia, A.; Alves, S.; Gonçalves, L.; Gregório, I.; Santos, A.C.; Barros, H.; Barros, A.; Carvalho, F.; Moura, C.. "Spectrum of CFTR gene sequence variants in a northern Portugal population". Pulmonology 24 1 (2018): 3-9. http://dx.doi.org/10.1016/j.pulmoe.2017.12.007.
    10.1016/j.pulmoe.2017.12.007
  30. Teixeira, S.; Sá, R.; Grangeia, A.; Silva, J.; Oliveira, C.; Ferráz, L.; Alves, A.; et al. "Immunohystochemical analysis of CFTR in normal and disrupted spermatogenesis". Systems Biology in Reproductive Medicine 59 1 (2013): 53-59. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872547287&partnerID=MN8TOARS.
    10.3109/19396368.2012.718851
  31. Havasi, V.; Rowe, S.M.; Kolettis, P.N.; Dayangac, D.; Ahin, A.; Grangeia, A.; Carvalho, F.; et al. "Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens". Fertility and Sterility 94 6 (2010): 2122-2127. http://www.scopus.com/inward/record.url?eid=2-s2.0-78049277842&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2009.11.044
  32. Grangeia, A.; Barro-Soria, R.; Carvalho, F.; Damas, A.M.; Maurício, A.C.; Kunzelmann, K.; Barros, A.; Sousa, M.. "Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains". Cellular Physiology and Biochemistry 22 1-4 (2008): 79-92. http://www.scopus.com/inward/record.url?eid=2-s2.0-51149085670&partnerID=MN8TOARS.
    10.1159/000149785
  33. Grangeia, A.; Sá, R.; Carvalho, F.; Martin, J.; Girodon, E.; Silva, J.; Ferráz, L.; et al. "Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens". Genetics in Medicine 9 3 (2007): 163-172. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247140174&partnerID=MN8TOARS.
    Published • 10.1097/GIM.0b013e3180318aaf
  34. Labrosse C; Stasiak K; Lesobre J; Grangeia A; Huguet E; Drezen JM; Poirie M. "A RhoGAP protein as a main immune suppressive factor in the Leptopilina boulardi (Hymenoptera, Figitidae)-Drosophila melanogaster interaction.". Insect biochemistry and molecular biology (2005): http://europepmc.org/abstract/med/15681220.
    10.1016/j.ibmb.2004.10.004
  35. Grangeia, A.; Carvalho, F.; Fernandes, S.; Silva, J.; Sousa, M.; Barros, A.. "A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens". Fertility and Sterility 83 2 (2005): 448-451. http://www.scopus.com/inward/record.url?eid=2-s2.0-13544251608&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2004.07.967
  36. Grangeia, A.; Niel, F.; Carvalho, F.; Fernandes, S.; Ardalan, A.; Girodon, E.; Silva, J.; et al. "Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly (T) variants in Portuguese patients with congenital absence of the vas deferens". Human Reproduction 19 11 (2004): 2502-2508. http://www.scopus.com/inward/record.url?eid=2-s2.0-8344267489&partnerID=MN8TOARS.
    10.1093/humrep/deh462
  37. Grangeia, A.; Carvalho, F.; Sousa, M.; Barros, A.. "CFTR gene mutations in congenital absence of vas deferens | Estudo das mutações do gene CFTR na ausência congénita dos canais deferentes". Arquivos de Medicina 18 1-2 (2004): http://www.scopus.com/inward/record.url?eid=2-s2.0-19644368852&partnerID=MN8TOARS.
Preprint
  1. Nicolau R; Beirão TM; Guimarães F; Aguiar F; Ganhão S; Rodrigues M; Grangeia A; Brito I. "Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing". 2023. http://europepmc.org/abstract/PPR/PPR643309.
    10.21203/rs.3.rs-2722884/v1
Thesis / Dissertation
  1. Ana Isabel Fernandes Grangeia. "Prevalence of Cystic Fibrosis and spectrum of CFTR gene mutations in a Portuguese population". Master, 2016. https://repositorio-aberto.up.pt/handle/10216/89277.

Other

Other output
  1. A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant. 2024. Amoedo, P; Grangeia, A; Peralta, L; Mota, A. https://www.authenticus.pt/P-010-11H.
    10.1016/j.abd.2022.09.020
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2019/11 A de novo variant in the myelin regulatory factor (MYRF) gene in an individual with cardiac urogenital syndrome. 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana
(Coimbra, Portugal)
2019/10 Sequenciação convencional, painéis NGS ou exoma: Qual o teste a pedir em DPN? Curso de Genética básica: A sua aplicação ao DPN. Reunião Científica da Associação Portuguesa de Diagnóstico Pré-Natal.
(Viana do Castelo, Portugal)
2019/09 A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 gene (RLBP1) causes retinitis punctata albescens. 19th Euretina Congress
(Paris, France)
2019/09 Genotype and phenotype in 201 Portuguese patients with osteogenesis imperfecta - unusual molecular results challenge genetic counseling. 14th Biennial International Skeletal Dysplasia Society Meeting
(Oslo, Norway)
2019/03 A Genética - e depois dos arrays? I Forum de Pediatria do Centro Hospitalar de São João
(Porto, Portugal)
2019/02 Causas Genéticas de Infertilidade Masculina. III Encontro Científico - Genética Humana do laboratório à clínica”
(Porto, Portugal)
2018/10 Sequenciação convencional, painéis NGS ou exoma: Qual o teste a pedir em DPN? Curso de Genética básica: A sua aplicação ao DPN
Associação Portuguesa de diagnóstico Pré-Natal (Lisboa, Portugal)
2018/01 Infertilidade Masculina e suas Causas Genética: Painel Infertilidade e Genética.. II Jornadas Internacionais de Andrologia Reprodutiva
(Vila Nova de Gaia, Portugal)
2009/11 Molecular Characterization of two CAVD-causing mutations located in the CFTR gene - V1108L and E831X. 13ª Reunião da Sociedade Portuguesa de Genética Humana
(Porto, Portugal)
2009/11 Diagnóstico Genético da Fibrose Cística. Dia Europeu da Fibrose Cística.
Sociedade Portuguesa da Fibrose Cística. (Vila Nova de Gaia, Portugal)
2009/10 Molecular Characterization of two CAVD-causing mutations located in the CFTR gene - V1108L and E831X. Reunião de Actualização em Medicina da Reprodução
2008/11 Estudo Molecular do Gene da Fibrose Cística na Ausência Congénita dos Canais Deferentes. Consensus em Andrologia.
(Porto, Portugal)
2007/06 Molecular and Functional Characterization of CBAVD-causing mutations located in both NBDs of the CFTR protein. 30th European Cystic Fibrosis Society (ECFS) Conferenc
(Belek, Turkey)
2006/11 Molecular and Functional Characterization of Three Novel CFTR Mutations in Portuguese CBAVD Patients. 10ª Reunião da Sociedade Portuguesa de Genética Humana.
(Coimbra, Portugal)
2006/05 Characterization of Three Novel CFTR Mutations in CBAVD Patients. I Encontro Nacional de Pós-Graduação em Ciências Biológicas.
(Aveiro, Portugal)
2006/04 Characterization of Three Novel CFTR Mutations in CBAVD Patients. New Frontiers in Basic Science of Cystic Fibrosis
European Cystic Fibrosis Society
2005/09 Characterization of CFTR mutations and IVS8-T variants in Portuguese patients with CAVD. T The 6th Royan International Research Award. Reproductive Biomedicine & Stem Cell.
(Teerão, Iran)
2005/06 Complete CFTR gene screening in Portuguese patientes with congenital absence of the vas deferens. 28th European Cystic Fibrosis Conference
(Creta, Greece)
2005/02 Caracterização total das mutações do gene Cystic Fibrosis Transmembrane Conductance Regulator em pacientes inférteis com ausência congénita dos canais deferentes. XLI Conferência de Genética Médica
(Porto, Portugal)
2004/10 Identificação de uma nova mutação P1290S no gene da fibrose cística num paciente português infértil com ausência congénita dos canais deferentes. II Congresso da Sociedade Portuguesa de Medicina da Reprodução,
(Espinho, Portugal)
2004/06 A novel CFTR gene mutation P1290S in a Portuguese patient with bilateral absence of the vas deferens. 27th European Cystic Fibrosis Conference
(Birmingham, United Kingdom)
2004/05 CFTR gene mutations in Infertile Portuguese patients with congenital absence of the vas deferens. New Frontiers in Basic Science of Cystic Fibrosis
European Cystic Fibrosis Society (Tomar, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2012 - 2014 Caracterização molecular do gene CFTR na população Portuguesa.
Supervisor
 Mestrado em Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2012 Cystic Fibrosis: Study of prevalence of the CFTR gene mutations in the Portuguese Population.
Supervisor
 Mestrado em Medicina e Oncologia Molecular (Master)
Faculdade de Medicina da Universidade do Porto, Portugal
2008 - 2010 Estudo da expressão do gene CFTR no epitélio germinal masculino.
Co-supervisor
 Mestrado em Genética Molecular Comparativa e Tecnológica (Master)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2008 - 2010 Caracterização molecular de duas mutações do gene CFTR identificadas em pacientes inférteis com ausência congénita dos canais deferentes
Co-supervisor
 Mestrado em Genética Molecular Comparativa e Tecnológica
Universidade de Trás-os-Montes e Alto Douro, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2019/09 - Current Genética Clínica Medicina (Mestrado integrado) Universidade do Porto Faculdade de Medicina, Portugal

Journal scientific committee

Journal title (ISSN) Publisher
2020 - Current American Journal of Medical Genetics
Distinctions

Award

2018 2018- Prémio SPGH Professor Amândio Tavares

Other distinction

2007 3º Prémio Centro de Genética Clínica “Professor Doutor Amândio Tavares”.
2006 Prémio de melhor trabalho de investigação básica.
2002 Bolsa de Investigação S.P.A/ABBOTT-2002