Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 26



11
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: 4
IN MY: ORCID
12
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
13
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
14
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
15
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: 20
IN MY: ORCID
16
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
17
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
18
TITLE: Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
AUTHORS: Viktoria Havasi; Steven M Rowe; Peter N Kolettis; Didem Dayangac; Ahmet Sahin; Ana Grangeia ; Filipa Carvalho ; Alberto Barros ; Mario Sousa ; Lluis Bassas; Teresa Casals; Eric J Sorscher;
PUBLISHED: 2010, SOURCE: FERTILITY AND STERILITY, VOLUME: 94, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
19
TITLE: Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains
AUTHORS: Ana Grangeia ; Rene Barro Soria; Filipa Carvalho ; Ana M Damas ; Ana Colette Mauricio ; Karl Kunzelmann ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2008, SOURCE: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 22, ISSUE: 1-4
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
20
TITLE: Molecular characterisation of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
AUTHORS: Grangeia, A ; Sa, R; Carvalho, F ; Martin, J; Girodon, E; Ferraz, L; Barros, A ; Sousa, M;
PUBLISHED: 2007, SOURCE: 23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology in HUMAN REPRODUCTION, VOLUME: 22
INDEXED IN: WOS
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