Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 46



11
TITLE: Novel Insights Into Lifetime Risk In HDGC: Lower Cancer Risk For The Most Recurrent <i>CDH1</i> Variant In Europe  Full Text
AUTHORS: Barbosa Matos, Rita; Fonseca, Joao; Garrido, Luzia; Seixas, Susana; Freixo, Joao Parente; Oliveira, Renata; Hueneburg, Robert; Benusiglio, Patrick; Dahan, Karin; Feret, Damien; Spier, Isabel; Aretz, Stefan; Desseignes, Camille; Quental, Ana Rita Ferreira Pacheco; Fernandes, Susana; Costa, Susy Cabral; Vilarinho, Lucia; Castedo, Sergio; Grangeia, Ana ; Vasconcelos, Alice Porto Guerra; Rocha, Diogo; Louro, Pedro; Batista, Manuela; Carneiro, Fatima; Gullo, Irene; Drouet, Youenn; Oliveira, Carla; ...More
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
IN MY: ORCID
12
TITLE: Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic  Full Text
AUTHORS: Pereira Macedo, Miguel; Grangeia, Ana ; Braga, Ana Costa; Rolim, Ricardo; Matias, Alexandra ;
PUBLISHED: 2024, SOURCE: CEREBELLUM
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
13
TITLE: Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study
AUTHORS: Beatriz Sousa; Ana Grangeia ; Joel Pinto ; Helena Santos; Sofia Dória ;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 1
INDEXED IN: CrossRef Unpaywall
IN MY: ORCID
14
TITLE: Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
AUTHORS: Vilan, Ana ; Grangeia, Ana ; Ribeiro, Jose Mendes; Cilio, Maria Roberta; de Vries, Linda S.;
PUBLISHED: 2023, SOURCE: NEUROPEDIATRICS, VOLUME: 55, ISSUE: 01
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
15
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
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
AUTHORS: Pereira Nunes, Joana; Vilan, Ana ; Grangeia, Ana ; d'Oliveira, Renata;
PUBLISHED: 2023, SOURCE: JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, VOLUME: 11
INDEXED IN: Scopus WOS CrossRef: 1 Unpaywall
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series
AUTHORS: Moleiro, Ana Filipa ; Oliveira, Joana Santos; Grangeia, Ana ; Faria, Pedro; Falcao Reis, Fernando; Magalhaes, Augusto; Silva, Sergio Estrela;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY, VOLUME: 34, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
18
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 | CIÊNCIAVITAE
19
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
20
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 | CIÊNCIAVITAE
Page 2 of 5. Total results: 46.

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