Quental R - Search Results

1

Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.

Ganhão S, Loureiro GB, Oliveira DR, Dos-Reis-Maia R, Aguiar F, Quental R, Moura C, Barreira JL, Rodrigues M, Brito I. Ganhão S, et al. Among authors: quental r. Clin Rheumatol. 2020 Dec;39(12):3853-3860. doi: 10.1007/s10067-020-05210-4. Epub 2020 Jun 13. Clin Rheumatol. 2020. PMID: 32535845 Review.

2

Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.

Quental R, Borges JP, Santos H, Leão M. Quental R, et al. Mol Syndromol. 2022 Dec;13(5):397-401. doi: 10.1159/000521692. Epub 2022 Mar 14. Mol Syndromol. 2022. PMID: 36588750 Free PMC article.

3

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. Neuropediatrics. 2023 Apr;54(2):120-125. doi: 10.1055/s-0042-1760366. Epub 2023 Jan 18. Neuropediatrics. 2023. PMID: 36652953 Review.

4

Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

Rodrigues R, Quental R, Santos Silva R, Costa L, Estrela-Silva S. Rodrigues R, et al. Among authors: quental r. Ophthalmic Genet. 2024 Jun;45(3):262-266. doi: 10.1080/13816810.2023.2291670. Epub 2023 Dec 14. Ophthalmic Genet. 2024. PMID: 38097925 Review.

5

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.

Quental R, Gonçalves D, Rodrigues E, Serrano Gonçalves E, Oliveira J, Parente Freixo J, Leão M. Quental R, et al. Am J Med Genet A. 2022 Apr;188(4):1311-1316. doi: 10.1002/ajmg.a.62636. Epub 2022 Jan 8. Am J Med Genet A. 2022. PMID: 34997803

6

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 r. Ann Hum Genet. 2025 Jan;89(1):24-30. doi: 10.1111/ahg.12581. Epub 2024 Oct 3. Ann Hum Genet. 2025. PMID: 39361243

7

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 r. 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.

8

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.

Quental R, Azevedo L, Rubio V, Diogo L, Amorim A. Quental R, et al. Clin Genet. 2009 May;75(5):457-64. doi: 10.1111/j.1399-0004.2009.01172.x. Clin Genet. 2009. PMID: 19475717

9

Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.

Pereira-Castro I, Quental R, da Costa LT, Amorim A, Azevedo L. Pereira-Castro I, et al. Among authors: quental r. Hum Genet. 2012 Feb;131(2):265-74. doi: 10.1007/s00439-011-1075-9. Epub 2011 Jul 30. Hum Genet. 2012. PMID: 21805148

10

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).

Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A. Azevedo L, et al. Among authors: quental r. Ann Hum Genet. 2006 Nov;70(Pt 6):797-801. doi: 10.1111/j.1469-1809.2006.00283.x. Ann Hum Genet. 2006. PMID: 17044854

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