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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: alvarez a. 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.
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: alvarez a. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148 Free article.
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: alvarez a. 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.
2024 Update of the RECOVER-Adult Long COVID Research Index.
Geng LN, Erlandson KM, Hornig M, Letts R, Selvaggi C, Ashktorab H, Atieh O, Bartram L, Brim H, Brosnahan SB, Brown J, Castro M, Charney A, Chen P, Deeks SG, Erdmann N, Flaherman VJ, Ghamloush MA, Goepfert P, Goldman JD, Han JE, Hess R, Hirshberg E, Hoover SE, Katz SD, Kelly JD, Klein JD, Krishnan JA, Lee-Iannotti J, Levitan EB, Marconi VC, Metz TD, Modes ME, Nikolich JŽ, Novak RM, Ofotokun I, Okumura MJ, Parthasarathy S, Patterson TF, Peluso MJ, Poppas A, Quintero Cardona O, Scott J, Shellito J, Sherif ZA, Singer NG, Taylor BS, Thaweethai T, Verduzco-Gutierrez M, Wisnivesky J, McComsey GA, Horwitz LI, Foulkes AS; RECOVER Consortium. Geng LN, et al. JAMA. 2024 Dec 18. doi: 10.1001/jama.2024.24184. Online ahead of print. JAMA. 2024. PMID: 39693079
2,301 results