Jorge P - 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. 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.

2

Statistical approach to prenatal zygosity assessment following a decade of molecular aneuploidy screening.

Pires S, Nogueira AJ, Pinho O, Delgado T, Sousa M, Santos R, Jorge P. Pires S, et al. Among authors: jorge p. Twin Res Hum Genet. 2011 Jun;14(3):221-7. doi: 10.1375/twin.14.3.221. Twin Res Hum Genet. 2011. PMID: 21623651

3

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

Jorge P, Oliveira B, Marques I, Santos R. Jorge P, et al. BMC Med Genet. 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. BMC Med Genet. 2013. PMID: 23914978 Free PMC article.

4

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: jorge p. 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.

5

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

Jorge P, Mota-Freitas MM, Santos R, Silva ML, Soares G, Fortuna AM. Jorge P, et al. J Clin Med. 2014 Jul 24;3(3):838-48. doi: 10.3390/jcm3030838. J Clin Med. 2014. PMID: 26237480 Free PMC article.

6

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. Among authors: jorge p. 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

7

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.

8

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.

9

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.

10

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: jorge p. Front Genet. 2020 Nov 13;11:557147. doi: 10.3389/fgene.2020.557147. eCollection 2020. Front Genet. 2020. PMID: 33281866 Free PMC article.

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