Azevedo L - Search Results

1

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: azevedo l. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551

2

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.

Azevedo L, Vilarinho L, Teles EL, Amorim A. Azevedo L, et al. Mol Genet Metab. 2002 May;76(1):68-70. doi: 10.1016/s1096-7192(02)00013-6. Mol Genet Metab. 2002. PMID: 12175783

3

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: azevedo l. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148

4

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. 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

5

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: azevedo l. 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

6

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. Among authors: azevedo l. Clin Genet. 2009 May;75(5):457-64. doi: 10.1111/j.1399-0004.2009.01172.x. Clin Genet. 2009. PMID: 19475717

7

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Vilarinho L, et al. Among authors: azevedo l. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911013

8

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM. Ferreira M, et al. Among authors: azevedo l. Neuromuscul Disord. 2011 Jul;21(7):483-8. doi: 10.1016/j.nmd.2011.03.011. Epub 2011 May 7. Neuromuscul Disord. 2011. PMID: 21550804

9

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Ferreira F, Esteves S, Almeida LS, Gaspar A, da Costa CD, Janeiro P, Bandeira A, Martins E, Teles EL, Garcia P, Azevedo L, Vilarinho L. Ferreira F, et al. Among authors: azevedo l. Gene. 2013 Sep 15;527(1):366-70. doi: 10.1016/j.gene.2013.05.025. Epub 2013 Jun 17. Gene. 2013. PMID: 23791655

10

Improving the in silico assessment of pathogenicity for compensated variants.

Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN. Azevedo L, et al. Eur J Hum Genet. 2016 Jan;25(1):2-7. doi: 10.1038/ejhg.2016.129. Epub 2016 Oct 5. Eur J Hum Genet. 2016. PMID: 27703146 Free PMC article.

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