M
Montserrat Rodríguez-Ballesteros
Researcher at University of Poitiers
Publications - 17
Citations - 1204
Montserrat Rodríguez-Ballesteros is an academic researcher from University of Poitiers. The author has contributed to research in topics: Hearing loss & OTOF. The author has an hindex of 13, co-authored 16 publications receiving 1099 citations.
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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
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Montserrat Rodríguez-Ballesteros,Francisco J. del Castillo,Yolanda Martín,Miguel A. Moreno-Pelayo,Constantino Morera,Félix Prieto,Jaime Marco,Morant A,J. Gallo-Terán,Carmelo Morales-Angulo,Cristina Navas,Germán Trinidad,M. Cruz Tapia,Felipe Moreno,Ignacio del Castillo +14 more
TL;DR: The results of this study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene, responsible for the DFNB9 subtype of prelingual hearing impairment.
Journal ArticleDOI
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Montserrat Rodríguez-Ballesteros,Raúl Reynoso,Margarita Olarte,Manuela Villamar,Constantino Morera,Rosamaria Santarelli,Edoardo Arslan,Carme Medá,Carlos Curet,C. Völter,Manuel Sainz-Quevedo,Pierangela Castorina,Umberto Ambrosetti,Stefano Berrettini,Klemens Frei,Socorro Tedín,Janine Smith,M. Cruz Tapia,Laura Cavallé,Nancy Gelvez,Paola Primignani,Elena Gómez-Rosas,Mirta Martín,M A Moreno-Pelayo,Martalucía Tamayo,José Moreno-Barral,Felipe Moreno,Ignacio del Castillo +27 more
TL;DR: The results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OtoF mutations are a major cause of inherited auditory neuropathy.
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).
Journal ArticleDOI
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss
V Migliosi,Silvia Modamio-Høybjør,M A Moreno-Pelayo,Montserrat Rodríguez-Ballesteros,Manuela Villamar,D. Tellería,Ibis Menéndez,F Moreno,I del Castillo +8 more
TL;DR: The recent impressive progress in the investigation of genetic deafness has been the result of a research strategy based on the study of large pedigrees with many affected subjects, and little is known about the individual contribution of other genes and their mutations to the remaining uncharacterised cases.