Sousa AB - Search Results

1

NGLY1 deficiency-A rare congenital disorder of deglycosylation.

Lipari Pinto P, Machado C, Janeiro P, Dupont J, Quintas S, Sousa AB, Gaspar A. Lipari Pinto P, et al. Among authors: sousa ab. JIMD Rep. 2020 Apr 10;53(1):2-9. doi: 10.1002/jmd2.12108. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395402 Free PMC article.

2

[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].

Martins R, Moldovan O, Sousa AB, Levy A, Quintas S. Martins R, et al. Among authors: sousa ab. Acta Med Port. 2020 Jun 1;33(6):415-424. doi: 10.20344/amp.12550. Epub 2020 May 31. Acta Med Port. 2020. PMID: 32504517 Free article. Review. Portuguese.

3

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Dupont J, Vieira JP, Tavares ALT, Conceição CR, Khan S, Bertoli-Avella AM, Sousa AB. Dupont J, et al. Among authors: sousa ab. Clin Genet. 2021 Apr;99(4):588-593. doi: 10.1111/cge.13922. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33439489

4

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.

Silva RG, Dupont J, Silva E, Sousa AB. Silva RG, et al. Among authors: sousa ab. J AAPOS. 2022 Oct;26(5):268-270. doi: 10.1016/j.jaapos.2022.05.008. Epub 2022 Aug 5. J AAPOS. 2022. PMID: 35940561

5

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Soares MP, Travessa AM, Custódio S, Pereira C, Pinto P, Sousa AB. Soares MP, et al. Among authors: sousa ab. Endocr Metab Immune Disord Drug Targets. 2024 Jan 12. doi: 10.2174/0118715303283767231120113921. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2024. PMID: 38243972

6

Neonatal McCune-Albright syndrome with systemic involvement: a case report.

Lourenço R, Dias P, Gouveia R, Sousa AB, Oliveira G. Lourenço R, et al. Among authors: sousa ab. J Med Case Rep. 2015 Sep 4;9:189. doi: 10.1186/s13256-015-0689-2. J Med Case Rep. 2015. PMID: 26341786 Free PMC article.

7

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC. Alvelos MI, et al. Among authors: sousa ab. Medicine (Baltimore). 2015 Feb;94(7):e469. doi: 10.1097/MD.0000000000000469. Medicine (Baltimore). 2015. PMID: 25700310 Free PMC article.

8

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Marques I, et al. Among authors: sousa ab. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25. Mol Genet Genomic Med. 2015. PMID: 26029707 Free PMC article.

9

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.

Travessa AM, Dias P, Santos A, Custódio S, Sousa A, Sousa AB. Travessa AM, et al. Among authors: sousa a, sousa ab. Taiwan J Obstet Gynecol. 2020 Mar;59(2):318-322. doi: 10.1016/j.tjog.2020.01.024. Taiwan J Obstet Gynecol. 2020. PMID: 32127157 Free article.

10

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB. Travessa AM, et al. Among authors: sousa ab. Am J Med Genet A. 2020 Nov;182(11):2715-2721. doi: 10.1002/ajmg.a.61817. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856782

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