Y
Y. Martin
Publications - 2
Citations - 420
Y. Martin is an academic researcher. The author has contributed to research in topics: Hearing loss & Heteroplasmy. The author has an hindex of 2, co-authored 2 publications receiving 399 citations.
Papers
More filters
Journal ArticleDOI
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
F J del Castillo,Montserrat Rodríguez-Ballesteros,Araceli Álvarez,Hutchin Tp,Emanuela Leonardi,C. A. M. de Oliveira,Hela Azaiez,Zippora Brownstein,Matthew R. Avenarius,Sandrine Marlin,Arti Pandya,Hashem Shahin,Kirby Siemering,Dominique Weil,Wim Wuyts,Luis A. Aguirre,Y. Martin,M A Moreno-Pelayo,Manuela Villamar,Karen B. Avraham,H.-H. M. Dahl,Moien Kanaan,Walter E. Nance,Christine Petit,Richard J.H. Smith,G. Van Camp,Edi Lúcia Sartorato,Alessandra Murgia,F Moreno,I del Castillo +29 more
TL;DR: The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause.
Journal ArticleDOI
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
F J del Castillo,Montserrat Rodríguez-Ballesteros,Y. Martin,B Arellano,J. Gallo-Terán,Carmelo Morales-Angulo,R. Ramirez-Camacho,M. Cruz Tapia,J Solanellas,A Martínez-Conde,Manuela Villamar,M A Moreno-Pelayo,F Moreno,I del Castillo +13 more
TL;DR: In a majority of patients, the hearing loss is not severe, and in Spain it accounts for about 15–20% of all familial cases of non-syndromic hearing loss, irrespective of their mode of inheritance and age of onset (the authors' unpublished results).