Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 39



11
TITLE: Periventricular Heterotopia and Novel FLNA Gene Variant: Clinical and Neuroimaging Clues for an Early Diagnosis
AUTHORS: Vilan, A ; Ferreira, MV; Pereira, M ; Sampaio, L; Grangeia, A ;
PUBLISHED: 2023, SOURCE: Journal of Neonatology, VOLUME: 37, ISSUE: 3
INDEXED IN: Scopus CrossRef: 1 Unpaywall
IN MY: ORCID
12
TITLE: Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing
AUTHORS: Nicolau, Rafaela; Beirao, Tiago; Guimaraes, Francisca; Aguiar, Francisca; Ganhao, Sara; Rodrigues, Mariana; Grangeia, Ana ; Brito, Iva ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RHEUMATOLOGY, VOLUME: 21, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
13
TITLE: Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing (vol 21, 48, 2023)  Full Text
AUTHORS: Nicolau, Rafaela; Beirao, Tiago; Guimaraes, Francisca; Aguiar, Francisca; Ganhao, Sara; Rodrigues, Mariana; Grangeia, Ana ; Brito, Iva ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RHEUMATOLOGY, VOLUME: 21, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
14
TITLE: Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis
AUTHORS: Nunes, Joana Pereira; Ferreras, Cristina; Grangeia, Ana ; Aguiar, Francisca; Rodrigues, Mariana; Brito, Iva ;
PUBLISHED: 2023, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 15, ISSUE: 1
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID
15
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 | CIÊNCIAVITAE
16
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: 2
IN MY: ORCID | CIÊNCIAVITAE
17
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: 2
IN MY: ORCID | CIÊNCIAVITAE
18
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
IN MY: ORCID
19
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 | CIÊNCIAVITAE
20
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: 6
IN MY: ORCID | CIÊNCIAVITAE
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