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Page 1
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: del castillo i. J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324. J Med Genet. 2005. PMID: 15994881 Free PMC article. No abstract available.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M. Stanescu S, et al. Among authors: del castillo fj. Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861. Biomedicines. 2023. PMID: 37893235 Free PMC article.
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. Among authors: del castillo fj. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148 Free article.
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: del castillo i. J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632. J Med Genet. 2003. PMID: 12920080 Free PMC article. No abstract available.
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: del castillo fj. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC article.
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