Jorge P - Search Results

1

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P. Maia N, et al. Among authors: jorge p. Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078. Genes (Basel). 2021. PMID: 35052418 Free PMC article.

2

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.

Rodrigues B, Gonçalves A, Sousa V, Maia N, Marques I, Vale-Fernandes E, Santos R, Nogueira AJA, Jorge P. Rodrigues B, et al. Among authors: jorge p. Genes (Basel). 2022 Feb 25;13(3):419. doi: 10.3390/genes13030419. Genes (Basel). 2022. PMID: 35327973 Free PMC article.

3

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, de Brouwer APM, Jorge P. Maia N, et al. Among authors: jorge p. Mol Syndromol. 2017 Dec;9(1):45-51. doi: 10.1159/000479177. Epub 2017 Aug 29. Mol Syndromol. 2017. PMID: 29456483 Free PMC article.

4

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Maia N, Soares AR, Fortuna AM, Marques I, Gonçalves A, Santos R, Melo Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: jorge p. Clin Case Rep. 2020 Jul 30;8(12):2476-2482. doi: 10.1002/ccr3.3146. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363762 Free PMC article.

5

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Maia N, Soares G, Silva C, Marques I, Rodrigues B, Santos R, Melo-Pires M, de Brouwer AP, Temudo T, Jorge P. Maia N, et al. Among authors: jorge p. Front Genet. 2020 Sep 24;11:1038. doi: 10.3389/fgene.2020.01038. eCollection 2020. Front Genet. 2020. PMID: 33193593 Free PMC article.

6

Intellectual disability genomics: current state, pitfalls and future challenges.

Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: jorge p. BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4. BMC Genomics. 2021. PMID: 34930158 Free PMC article. Review.

7

Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.

Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, Jorge P. Silva C, et al. Among authors: jorge p. Sci Rep. 2021 Jul 19;11(1):14676. doi: 10.1038/s41598-021-93473-5. Sci Rep. 2021. PMID: 34282157 Free PMC article.

8

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: jorge p. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.

9

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: jorge p. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.

10

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

Jorge P, Garcia E, Gonçalves A, Marques I, Maia N, Rodrigues B, Santos H, Fonseca J, Soares G, Correia C, Reis-Lima M, Cirigliano V, Santos R. Jorge P, et al. BMC Med Genet. 2018 May 10;19(1):74. doi: 10.1186/s12881-018-0589-6. BMC Med Genet. 2018. PMID: 29747568 Free PMC article.

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