Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 26



1
TITLE: Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in <i>SMG8</i> gene  Full Text
AUTHORS: Fernandes, Andre Aires; Grangeia, Ana ; Dias, Leonor; Guimaraes, Joana;
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 191, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
2
TITLE: Cat-Eye Syndrome: A Report of Two Cases and Literature Review
AUTHORS: Gaspar, Nelia S.; Rocha, Gustavo; Grangeia, Ana ; Soares, Henrique C. ;
PUBLISHED: 2022, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 14, ISSUE: 6
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID
3
TITLE: Clinical Findings on Chromosome Copy Number Variations
AUTHORS: Leitao, Filipa; Grangeia, Ana ; Pinto, Joel; Passas, Armanda; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: NEUROPEDIATRICS, VOLUME: 53, ISSUE: 04
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
4
TITLE: Congenital myopathies in adults: A diagnosis not to overlook  Full Text
AUTHORS: Pinto, Maria Joao ; Passos, Barbara Alves; Grangeia, Ana ; Guimaraes, Joana; Braz, Luis ;
PUBLISHED: 2022, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 146, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
5
TITLE: Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses  Full Text
AUTHORS: Costa, Beatriz C.; Grangeia, Ana ; Galvao, Joana; Vaz, Diane; Melo, Monica; Carraca, Teresa; Ramalho C ; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: ANNALS OF DIAGNOSTIC PATHOLOGY, VOLUME: 61
INDEXED IN: Scopus WOS CrossRef: 1
6
TITLE: PURA syndrome in a child with severe developmental delay: A challenging diagnosis [Síndrome PURA en una niña con retraso grave del desarrollo: Un diagnóstico desafiante]
AUTHORS: Nogueira, M; Melo, C ; Grangeia, A ; Magalhães, T; Soares, C; Dias, R; Fonseca, J ; Sampaio, M; Sousa, R;
PUBLISHED: 2022, SOURCE: Revista de Neurologia, VOLUME: 74, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID
7
TITLE: A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens
AUTHORS: Torres Costa, S; Ferreira, CS; Grangeia, A ; Santos Silva, R ; Brandao, E; Estrela Silva, S; Falcao Reis, F ;
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY, VOLUME: 31, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
8
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: 1
IN MY: ORCID
9
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
IN MY: ORCID
10
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: 5
IN MY: ORCID
Page 1 of 3. Total results: 26.

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