Quintela I - Search Results

1

A Genome-Wide Association Study of Small Cell Lung Cancer.

Enjo-Barreiro JR, Ruano-Ravina A, Diz-de-Almeida S, Cruz R, Quintela I, Rey-Brandariz J, Carracedo Á, Kelsey K, Provencio M, Barros-Dios J, Varela-Lema L, Pérez-Ríos M. Enjo-Barreiro JR, et al. Among authors: quintela i. Arch Bronconeumol. 2023 Oct;59(10):645-650. doi: 10.1016/j.arbres.2023.07.008. Epub 2023 Jul 15. Arch Bronconeumol. 2023. PMID: 37500326 Free article. English, Spanish.

2

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C, Gil R, Sanchez-Diz P, Torres M, Quintela I, Carracedo A, Brión M. Allegue C, et al. Among authors: quintela i. Electrophoresis. 2010 May;31(10):1648-55. doi: 10.1002/elps.201000022. Electrophoresis. 2010. PMID: 20486126

3

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.

Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J. Quintela I, et al. Am J Med Genet A. 2015 Jun;167(6):1315-22. doi: 10.1002/ajmg.a.36909. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847113

4

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.

Mancikova V, Cruz R, Inglada-Pérez L, Fernández-Rozadilla C, Landa I, Cameselle-Teijeiro J, Celeiro C, Pastor S, Velázquez A, Marcos R, Andía V, Álvarez-Escolá C, Meoro A, Schiavi F, Opocher G, Quintela I, Ansede-Bermejo J, Ruiz-Ponte C, Santisteban P, Robledo M, Carracedo A. Mancikova V, et al. Among authors: quintela i. Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015 Apr 22. Int J Cancer. 2015. PMID: 25855579 Free article.

5

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.

Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J. Quintela I, et al. Am J Med Genet A. 2015 Jun;167(6):1369-73. doi: 10.1002/ajmg.a.37038. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25898976

6

Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent.

Acosta-Herrera M, Pino-Yanes M, Ma SF, Barreto-Luis A, Corrales A, Cumplido J, Pérez-Rodríguez E, Campo P, Eng C, García-Robaina JC, Quintela I, Villar J, Blanca M, Carracedo Á, Carrillo T, Garcia JG, Torgerson DG, Burchard EG, Flores C. Acosta-Herrera M, et al. Among authors: quintela i. J Allergy Clin Immunol. 2015 Oct;136(4):1116-8.e9. doi: 10.1016/j.jaci.2015.04.025. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025125 Free PMC article. No abstract available.

7

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Quintela I, Barros-Angueira F, Pérez-Gay L, Castro-Gago M, Carracedo Á, Eirís-Puñal J. Quintela I, et al. Rev Neurol. 2015 Jul 16;61(2):94-6. Rev Neurol. 2015. PMID: 26156445 Spanish. No abstract available.

8

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

Quintela I, Fernandez-Prieto M, Gomez-Guerrero L, Resches M, Eiris J, Barros F, Carracedo A. Quintela I, et al. Clin Case Rep. 2015 Jun;3(6):415-23. doi: 10.1002/ccr3.255. Epub 2015 Apr 9. Clin Case Rep. 2015. PMID: 26185640 Free PMC article.

9

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

Quintela I, Barros F, Fernandez-Prieto M, Martinez-Regueiro R, Castro-Gago M, Carracedo A, Gomez-Lado C, Eiris J. Quintela I, et al. Am J Med Genet A. 2015 Dec;167A(12):3113-20. doi: 10.1002/ajmg.a.37291. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284580

10

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A. Quintela I, et al. Am J Med Genet A. 2015 Dec;167A(12):3121-9. doi: 10.1002/ajmg.a.37292. Epub 2015 Aug 29. Am J Med Genet A. 2015. PMID: 26332054

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