Maia N - Search Results

1

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. 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.

2

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S. Maia N, et al. J Hum Genet. 2017 Feb;62(2):269-275. doi: 10.1038/jhg.2016.122. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784894

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. 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

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. Among authors: maia n. 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.

5

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant.

Tavares I, Oliveira ME, Maia N, Moreira L, Castro Lacerda P, Santos J, Santos R, Pinho Costa P, Lobato L. Tavares I, et al. Among authors: maia n. Amyloid. 2019;26(sup1):144-145. doi: 10.1080/13506129.2019.1582500. Amyloid. 2019. PMID: 31343282 No abstract available.

6

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. Front Genet. 2020 Sep 24;11:1038. doi: 10.3389/fgene.2020.01038. eCollection 2020. Front Genet. 2020. PMID: 33193593 Free PMC article.

7

Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations.

Rodrigues B, Vale-Fernandes E, Maia N, Santos F, Marques I, Santos R, Nogueira AJA, Jorge P. Rodrigues B, et al. Among authors: maia n. Front Genet. 2020 Nov 13;11:557147. doi: 10.3389/fgene.2020.557147. eCollection 2020. Front Genet. 2020. PMID: 33281866 Free PMC article.

8

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. 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.

9

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: maia n. Sci Rep. 2021 Jul 19;11(1):14676. doi: 10.1038/s41598-021-93473-5. Sci Rep. 2021. PMID: 34282157 Free PMC article.

10

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. BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4. BMC Genomics. 2021. PMID: 34930158 Free PMC article. Review.

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