Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida


AuthID: R-002-8QK

Publications Requiring Validation

11
TITLE: Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
AUTHORS: Samantha Malka; Pooja Biswas; Anne-Marie Berry; Riccardo Sangermano; Mukhtar Ullah; Siying Lin; Matteo D’Antonio; Aleksandr Jestin; Xiaodong Jiao; Mathieu Quinodoz; Lori Sullivan; Jessica C Gardner; Emily M Place; Michel Michaelides; Karolina Kaminska; Omar A Mahroo; Elena Schiff; Genevieve Wright; Francesca Cancellieri; Veronika Vaclavik; Cristina Santos; Atta Ur Rehman; Sudeep Mehrotra; Hafiz Muhammad Azhar Baig; Muhammad Iqbal; Muhammad Ansar; Luisa Coutinho Santos; Ana Berta Sousa; Viet H Tran; Hiroko Matsui; Anjana Bhatia; Muhammad Asif Naeem; Shehla J Akram; Javed Akram; Sheikh Riazuddin; Carmen Ayuso; Eric A Pierce; Alison J Hardcastle; Amer A Riazuddin; Kelly A Frazer; Fielding F Hejtmancik; Carlo Rivolta; Kinga M Bujakowska; Gavin Arno; Andrew R Webster; Radha Ayyagari; ...More
PUBLISHED: 2024, SOURCE: The American Journal of Human Genetics, VOLUME: 111, ISSUE: 9
INDEXED IN: CrossRef: 4
IN MY: ORCID
12
TITLE: Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
AUTHORS: Rodrigues, Raquel; Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 32, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
13
TITLE: A NOVEL LIKELY PATHOGENIC VARIANT IN KIF1A-A NEW CASE OF NESCAV SYNDROME  Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
14
TITLE: CONGENITAL HEART DEFECTS DETECTED IN PRENATAL CARE AT HOSPITAL SANTA MARIA-6-YEAR RETROSPECTIVE ANALYSIS  Full Text
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
15
TITLE: XQ28 AND BLUE CONE MONOCHROMACY: A HEMIZYGOUS DELETION INCLUDING OPN1LW AND OPN1MW  Full Text
AUTHORS: Rolo, Eva; Custodio, Sonia; Neves, Mariana T.; Dias, Patricia; Sousa, Ana; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
16
TITLE: NF2-RELATED SCHWANNOMATOSIS - AN ATYPICAL CASE PRESENTATION  Full Text
AUTHORS: Soares, Marta P.; Brito, Isabel; Passos, Joao; Carvalho, Joao; Lima, Jorge; Santos, Filipa Baptista; Dupont, Juliette; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
17
TITLE: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS CrossRef: 32
IN MY: ORCID
18
TITLE: Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder <i>SERPINF1</i> variant
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
19
TITLE: Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
AUTHORS: Lamounier, A; Gonzalez, AG; Vilela, AR; Andrade, AR; Alcaide, AR; Sousa, AB; Lopez, CB; Garcia, DA; Ferro, GF; Cruz, I; Reyes, IJC; Garcia, JSM; Larranaga Moreira, JM; Ochoa, JP; Palomino Doza, J; Romero, LD; Cicerchia, MN; Cordoba, MAR; Pena Pena, ML; Brogger, MN; Loureiro, M; Jimenez, MVM; Quesada, RB; Gutierrez, RF; Hernandez, SG; Ripoll Vera, T; Fernandez, X; Azevedo, O; Pavia, PG; Lopes, LR; Ortiz, M; Brito, D; Barriales Villa, R; Iglesias, LM; ...More
PUBLISHED: 2022, SOURCE: REVISTA ESPANOLA DE CARDIOLOGIA, VOLUME: 75, ISSUE: 3
INDEXED IN: WOS CrossRef: 2
IN MY: ORCID
20
TITLE: A new heterozygous c.730T > A, p.(Cys244Ser) variant in TP63 associated with severe hydronephrosis and volar nails
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Sousa, Ana B.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
Page 2 of 8. Total results: 80.

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service