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Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A. Alonso J, et al. Hum Mutat. 2005 Jan;25(1):99. doi: 10.1002/humu.9299. Hum Mutat. 2005. PMID: 15605413
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F. del Castillo I, et al. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148
[Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling].
Alonso J, Palacios I, Gámez A, Camino I, Frayle H, Menéndez I, Kontic M, García-Miguel P, Sastre A, Abelairas J, Sarret E, Sabado C, Navajas A, Artigas M, Indiano JM, Carbone A, Rosell J, Pestaña A. Alonso J, et al. Med Clin (Barc). 2006 Mar 25;126(11):401-5. doi: 10.1157/13086125. Med Clin (Barc). 2006. PMID: 16595082 Spanish.
Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.
Gámez-Pozo A, Palacios I, Kontic M, Menéndez I, Camino I, García-Miguel P, Abelairas J, Pestaña A, Alonso J. Gámez-Pozo A, et al. Hum Mutat. 2007 Dec;28(12):1245. doi: 10.1002/humu.9512. Hum Mutat. 2007. PMID: 18000883
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M. Bademci G, et al. Genet Med. 2016 Apr;18(4):364-71. doi: 10.1038/gim.2015.89. Epub 2015 Jul 30. Genet Med. 2016. PMID: 26226137 Free PMC article.
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M. Diaz-Horta O, et al. PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30. PLoS One. 2012. PMID: 23226338 Free PMC article.
Unique spectrum of GJB2 mutations in Mexico.
de la Luz Arenas-Sordo M, Menendez I, Hernández-Zamora E, Sirmaci A, Gutiérrez-Tinajero D, McGetrick M, Murphy-Ruiz P, Leyva-Juárez X, Huesca-Hernández F, Dominguez-Aburto J, Tekin M. de la Luz Arenas-Sordo M, et al. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1678-80. doi: 10.1016/j.ijporl.2012.08.005. Epub 2012 Aug 24. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22925408
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
Manzoli GN, Bademci G, Acosta AX, Félix TM, Cengiz FB, Foster J 2nd, Da Silva DS, Menendez I, Sanchez-Pena I, Tekin D, Blanton SH, Abe-Sandes K, Liu XZ, Tekin M. Manzoli GN, et al. Ann Hum Genet. 2016 Nov;80(6):327-331. doi: 10.1111/ahg.12177. Ann Hum Genet. 2016. PMID: 27870113 Free PMC article.
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