Hutchin T - Search Results

1

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: hutchin t. 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.

2

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: hutchin t. 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.

3

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V, Mueller RF. Hutchin TP, et al. Eur J Hum Genet. 2001 May;9(5):385-7. doi: 10.1038/sj.ejhg.5200640. Eur J Hum Genet. 2001. PMID: 11378827

4

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C. Verpy E, et al. Among authors: hutchin tp. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726. Nat Genet. 2001. PMID: 11687802

5

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.

Jacobs HT, Hutchin TP, Käppi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, Zelante L, Gasparini P, Pyykkö I, Shah ZH, Zeviani M, Mueller RF. Jacobs HT, et al. Among authors: hutchin tp. Eur J Hum Genet. 2005 Jan;13(1):26-33. doi: 10.1038/sj.ejhg.5201250. Eur J Hum Genet. 2005. PMID: 15292920

6

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.

Hutchin TP, Thompson KR, Parker M, Newton V, Bitner-Glindzicz M, Mueller RF. Hutchin TP, et al. J Med Genet. 2001 Apr;38(4):229-31. doi: 10.1136/jmg.38.4.229. J Med Genet. 2001. PMID: 11283203 Free PMC article.

7

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RF. Hutchin TP, et al. Eur J Hum Genet. 2001 Jan;9(1):56-8. doi: 10.1038/sj.ejhg.5200581. Eur J Hum Genet. 2001. PMID: 11175301

8

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R. Hutchin T, et al. Clin Genet. 2005 Dec;68(6):506-12. doi: 10.1111/j.1399-0004.2005.00539.x. Clin Genet. 2005. PMID: 16283880

9

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ. Kabahuma RI, et al. Among authors: hutchin t. Int J Pediatr Otorhinolaryngol. 2011 May;75(5):611-7. doi: 10.1016/j.ijporl.2011.01.029. Epub 2011 Mar 9. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21392827 Free PMC article.

10

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF. Hutchin TP, et al. J Med Genet. 2000 Sep;37(9):692-4. doi: 10.1136/jmg.37.9.692. J Med Genet. 2000. PMID: 10978361 Free PMC article.

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