Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 39



21
TITLE: Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant
AUTHORS: Esteves Leandro, J; Torres Costa, S; Estrela Silva, S; Santos Silva, R ; Brandão, E; Grangeia, A ; Fernandes, S; Oliveira, R; Falcão Reis, F; Rocha Sousa, A ;
PUBLISHED: 2021, SOURCE: European Journal of Ophthalmology
INDEXED IN: Scopus CrossRef: 4
IN MY: ORCID | CIÊNCIAVITAE
22
TITLE: Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia  Full Text
AUTHORS: Madeira, Carolina; Godinho, Goncalo; Grangeia, Ana ; Falcao, Manuel ; Silva, Renato ; Carneiro, Angela ; Brandao, Elisete; Magalhaes, Augusto; Falcao Reis, Fernando ; Estrela Silva, Sergio ;
PUBLISHED: 2021, SOURCE: CASE REPORTS IN OPHTHALMOLOGY, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
23
TITLE: A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia  Full Text
AUTHORS: Godinho, G; Madeira, C; Grangeia, A ; Neves Cardoso, P; Santos Silva, R ; Brandao, E; Carneiro, A ; Falcao Reis, F; Estrela Silva, S;
PUBLISHED: 2020, SOURCE: OPHTHALMIC GENETICS, VOLUME: 41, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID | CIÊNCIAVITAE
24
TITLE: ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report  Full Text
AUTHORS: Ferreira, MJ ; Pedro, J; Salazar, D; Costa, C; Rodrigues, JA; Costa, MM; Grangeia, A ; Castedo, JL; Carvalho, D ;
PUBLISHED: 2020, SOURCE: CASE REPORTS IN ENDOCRINOLOGY, VOLUME: 2020
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
25
TITLE: Wiedemann-Steiner syndrome in two patients from Portugal  Full Text
AUTHORS: Ana Grangeia ; Miguel Leao; Carla Pinto Moura ;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID | CIÊNCIAVITAE
26
TITLE: A case of germ-line mosaicism in Tuberous Sclerosis  Full Text
AUTHORS: Ana Grangeia ; Joana Marques, CJ ; Susana Fernandes; Miguel Leao;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
IN MY: ORCID
27
TITLE: CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort
AUTHORS: Santos Silva, R; Cardoso, R; Lopes, L; Fonseca, M; Espada, F; Sampaio, L; Brandao, C; Antunes, A; Braganca, G; Coelho, R; Bernardo, T; Vieira, P; Morais, R; Leitek, AL; Ribeiro, L; Carvalho, B; Grangeia, A ; Oliveira, R; Oliveira, MJ; Rey, V; Rosmaninho Salgado, J; Marques, B; Garcia, AM; Meireles, A; Carvalho, J; Sequeirau, A; Mirante, A; Borges, T; ...More
PUBLISHED: 2019, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 91, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | CIÊNCIAVITAE
28
TITLE: Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
AUTHORS: Santos Silva, R ; Rosario, M; Grangeia, A ; Costa, C ; Castro Correia, C ; Alonso, I; Leao, M; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID | CIÊNCIAVITAE
29
TITLE: Spectrum of CFTR gene sequence variants in a northern Portugal population
AUTHORS: Grangeia, A ; Alves, S; Goncalves, L; Gregorio, I; Santos, AC ; Barros, H ; Barros, A ; Carvalho, F ; Carla Pinto Moura ;
PUBLISHED: 2018, SOURCE: PULMONOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
30
TITLE: Immunohystochemical analysis of CFTR in normal and disrupted spermatogenesis  Full Text
AUTHORS: Silvia Teixeira; Rosalia Sa ; Ana Grangeia ; Joaquina Silva; Cristiano Oliveira; Luis Ferraz; Angela Alves; Sandra Paiva; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2013, SOURCE: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, VOLUME: 59, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID | CIÊNCIAVITAE
Page 3 of 4. Total results: 39.

A place for researchers and their institutions

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service