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Page 1
Contribution of rare copy number variants to isolated human malformations.
Serra-Juhé C, Rodríguez-Santiago B, Cuscó I, Vendrell T, Camats N, Torán N, Pérez-Jurado LA. Serra-Juhé C, et al. Among authors: vendrell t. PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3. PLoS One. 2012. PMID: 23056206 Free PMC article.
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Audi L, et al. Among authors: vendrell t. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. J Clin Endocrinol Metab. 2010. PMID: 20150575 Free article.
Terminal deletion of 6p: report of a new case.
Plaja A, Vidal R, Soriano D, Bou X, Vendrell T, Mediano C, Pueyo JM, Labraña X, Sarret E. Plaja A, et al. Among authors: vendrell t. Ann Genet. 1994;37(4):196-9. Ann Genet. 1994. PMID: 7710255
Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.
Lloveras E, Pérez C, Solé F, Zamora L, Lladonosa A, Espinet B, Silvestre E, Serra J, Vendrell T, Fernández B, Salido M, Plaja A. Lloveras E, et al. Among authors: vendrell t. Am J Med Genet A. 2004 Feb 1;124A(4):402-6. doi: 10.1002/ajmg.a.20447. Am J Med Genet A. 2004. PMID: 14735590
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF. Fernández-Álvarez P, et al. Among authors: vendrell t. J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910934 Review.
32 results