Quental R - Search Results

1

Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates.

Quental R, Azevedo L, Matthiesen R, Amorim A. Quental R, et al. BMC Evol Biol. 2010 Jul 15;10:212. doi: 10.1186/1471-2148-10-212. BMC Evol Biol. 2010. PMID: 20633274 Free PMC article.

2

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.

3

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

4

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L. Quelhas D, et al. Among authors: quental r. Ann Hum Genet. 2007 May;71(Pt 3):348-53. doi: 10.1111/j.1469-1809.2006.00334.x. Epub 2006 Dec 12. Ann Hum Genet. 2007. PMID: 17166182

5

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

6

Evolutionary history and functional diversification of phosphomannomutase genes.

Quental R, Moleirinho A, Azevedo L, Amorim A. Quental R, et al. J Mol Evol. 2010 Aug;71(2):119-27. doi: 10.1007/s00239-010-9368-5. Epub 2010 Jul 27. J Mol Evol. 2010. PMID: 20661555

7

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

8

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

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18 results

Search Page

Filters