Quental S - Search Results

1

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Porto Vasconcelos A, Quental S, Freixo JP, Pacheco JM, Rodrigues S, Magalhães M, Oliveira R, Braga AC, Quental R. Porto Vasconcelos A, et al. Among authors: quental s. Ann Hum Genet. 2024 Oct 3. doi: 10.1111/ahg.12581. Online ahead of print. Ann Hum Genet. 2024. PMID: 39361243

2

A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

Quental R, Sampaio M, Alonso I, Quental S, Leão M, Sousa R. Quental R, et al. Among authors: quental s. Neuropediatrics. 2023 Apr;54(2):120-125. doi: 10.1055/s-0042-1760366. Epub 2023 Jan 18. Neuropediatrics. 2023. PMID: 36652953 Review.

3

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Gonçalves F, Lisboa-Gonçalves P, Quental R, Fernandes S, Quental S, Michel-Calemard L, Goursaud C, Marques S, Santos J, Tavares I, Oliveira JP. Gonçalves F, et al. Among authors: quental s. Nefrologia (Engl Ed). 2024 Jul-Aug;44(4):576-581. doi: 10.1016/j.nefroe.2024.08.002. Nefrologia (Engl Ed). 2024. PMID: 39216982 Free article.

4

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ. Quental S, et al. Ann Hum Genet. 2009 May;73(Pt 3):298-303. doi: 10.1111/j.1469-1809.2009.00518.x. Ann Hum Genet. 2009. PMID: 19456321

5

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Reis CS, Quental S, Fernandes S, Castedo S, Moura CP. Reis CS, et al. Among authors: quental s. Cytogenet Genome Res. 2022;162(1-2):1-9. doi: 10.1159/000523840. Epub 2022 May 17. Cytogenet Genome Res. 2022. PMID: 35580552 Free article.

6

Incidence of maple syrup urine disease in Portugal.

Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ. Quental S, et al. Mol Genet Metab. 2010 Aug;100(4):385-7. doi: 10.1016/j.ymgme.2010.04.007. Epub 2010 Apr 22. Mol Genet Metab. 2010. PMID: 20466570

7

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. Quental S, et al. Mol Genet Metab. 2008 Jun;94(2):148-56. doi: 10.1016/j.ymgme.2008.02.008. Epub 2008 Apr 2. Mol Genet Metab. 2008. PMID: 18378174

8

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Coutinho MF, da Silva Santos L, Lacerda L, Quental S, Wibrand F, Lund AM, Johansen KB, Prata MJ, Alves S. Coutinho MF, et al. Among authors: quental s. JIMD Rep. 2012;4:117-24. doi: 10.1007/8904_2011_83. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430906 Free PMC article.

9

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal.

Oliveira E, Alves S, Quental S, Ferreira F, Norton L, Costa V, Amorim A, Prata MJ. Oliveira E, et al. Among authors: quental s. J Pediatr Hematol Oncol. 2005 Aug;27(8):425-9. doi: 10.1097/01.mph.0000177513.81465.94. J Pediatr Hematol Oncol. 2005. PMID: 16096524

10

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique.

Oliveira E, Quental S, Alves S, Amorim A, Prata MJ. Oliveira E, et al. Among authors: quental s. Eur J Clin Pharmacol. 2007 Jul;63(7):703-6. doi: 10.1007/s00228-007-0310-8. Epub 2007 May 1. Eur J Clin Pharmacol. 2007. PMID: 17473918

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