Santos R - Search Results

1

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: santos f, santos r. Front Genet. 2020 Nov 13;11:557147. doi: 10.3389/fgene.2020.557147. eCollection 2020. Front Genet. 2020. PMID: 33281866 Free PMC article.

2

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

Rodrigues C, Jorge P, Soares JP, Santos I, Salomão R, Madeira M, Osorió RV, Santos R. Rodrigues C, et al. Among authors: santos r, santos i. Eur J Endocrinol. 2005 Feb;152(2):193-8. doi: 10.1530/eje.1.01826. Eur J Endocrinol. 2005. PMID: 15745925 Free article.

3

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: santos r. Twin Res Hum Genet. 2011 Jun;14(3):221-7. doi: 10.1375/twin.14.3.221. Twin Res Hum Genet. 2011. PMID: 21623651

4

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. Seixas AI, et al. Among authors: santos r. Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19. Behav Brain Funct. 2011. PMID: 21639881 Free PMC article.

5

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. Among authors: santos r. BMC Med Genet. 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. BMC Med Genet. 2013. PMID: 23914978 Free PMC article.

6

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: santos r. 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.

7

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. Among authors: santos r. J Clin Med. 2014 Jul 24;3(3):838-48. doi: 10.3390/jcm3030838. J Clin Med. 2014. PMID: 26237480 Free PMC article.

8

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: santos r. 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

9

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: santos r. Mol Syndromol. 2017 Dec;9(1):45-51. doi: 10.1159/000479177. Epub 2017 Aug 29. Mol Syndromol. 2017. PMID: 29456483 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. Among authors: santos r, santos h. 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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