Ana Berta Sousa
Overview
Explore the profile of Ana Berta Sousa including associated specialties, affiliations and a list of published articles.
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42
Citations
472
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Macedo C, Rodrigues R, Monteiro J, Sousa A, Sousa A, Soeiro E Sa M
Clin Dysmorphol
. 2025 Mar;
PMID: 40073203
No abstract available.
3.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
4.
Lima B, Pais A, Dupont J, Dias P, Custodio N, Sousa A, et al.
Life Sci Alliance
. 2024 Dec;
8(3.
PMID: 39741007
Variants in the hereditary cancer-associated and genes can alter RNA splicing, producing transcripts that encode internally truncated yet potentially functional proteins. However, few studies have quantitatively analyzed variant-specific splicing isoforms....
5.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger J, Audo I, et al.
Nat Commun
. 2024 Nov;
15(1):10096.
PMID: 39572588
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism....
6.
Iglesias-Romero A, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2299-2306.
PMID: 39226897
Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified...
7.
Malka S, Biswas P, Berry A, Sangermano R, Ullah M, Lin S, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2012-2030.
PMID: 39191256
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the...
8.
Schmetz A, Ballesta-Martinez M, Isidor B, Sousa A, Wieczorek D, Bramswig N
Med Genet
. 2024 Jun;
36(2):95-102.
PMID: 38854651
Clinical geneticists and syndromologists have traditionally focused on identifying syndromes in children. However, there is a growing acknowledgment of the need to describe adult phenotypes. This article provides an overview...
9.
Soares M, Travessa A, Custodio S, Pereira C, Pinto P, Sousa A
Endocr Metab Immune Disord Drug Targets
. 2024 Jan;
PMID: 38243972
Introduction: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants...
10.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, et al.
Graefes Arch Clin Exp Ophthalmol
. 2024 Jan;
262(6):1883-1897.
PMID: 38189974
Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP...