Z
Zippora Brownstein
Researcher at Tel Aviv University
Publications - 35
Citations - 2088
Zippora Brownstein is an academic researcher from Tel Aviv University. The author has contributed to research in topics: Hearing loss & Population. The author has an hindex of 17, co-authored 33 publications receiving 1869 citations. Previous affiliations of Zippora Brownstein include Rabin Medical Center & Weizmann Institute of Science.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
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
Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study
Ignacio del Castillo,Miguel A. Moreno-Pelayo,Francisco J. del Castillo,Zippora Brownstein,Sandrine Marlin,Quint Adina,David J. Cockburn,Arti Pandya,Kirby Siemering,G. Parker Chamberlin,Ester Ballana,Wim Wuyts,Andréa Trevas Maciel-Guerra,Araceli Álvarez,Manuela Villamar,Mordechai Shohat,Mordechai Shohat,Dvorah Abeliovich,Hans Henrik M. Dahl,Hans Henrik M. Dahl,Xavier Estivill,Paolo Gasparini,Tim P Hutchin,Walter E. Nance,Edi Lúcia Sartorato,Richard J.H. Smith,Guy Van Camp,Karen B. Avraham,Christine Petit,Felipe Moreno +29 more
TL;DR: A deletion truncating the GJB6 gene (encoding connexin-30) is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation.
Journal ArticleDOI
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Zippora Brownstein,Lilach M. Friedman,Hashem Shahin,Varda Oron-Karni,Nitzan Kol,Amal Abu Rayyan,Thomas Parzefall,Dorit Lev,Stavit A. Shalev,Stavit A. Shalev,Moshe Frydman,Bella Davidov,Mordechai Shohat,Mordechai Shohat,Michele Rahile,Sari Lieberman,Ephrat Levy-Lahad,Ephrat Levy-Lahad,Ming K. Lee,Noam Shomron,Mary Claire King,Tom Walsh,Moien Kanaan,Karen B. Avraham +23 more
TL;DR: Characterization of the proteins encoded by these genes will enable an understanding of the biological mechanisms involved in hearing loss and the integration of genomic analysis into early clinical diagnosis of hearing loss will enable prediction of related phenotypes and enhance rehabilitation.
Journal ArticleDOI
The LINC complex is essential for hearing
Henning F. Horn,Zippora Brownstein,Danielle R. Lenz,Shaked Shivatzki,Amiel A. Dror,Orit Dagan-Rosenfeld,Lilach M. Friedman,Kyle J. Roux,Serguei Kozlov,Kuan-Teh Jeang,Moshe Frydman,Brian Burke,Colin L. Stewart,Karen B. Avraham +13 more
TL;DR: It is demonstrated that the LINC complex is essential for viability and normal morphology of OHCs and suggested that the position of the nucleus in sensory epithelial cells is critical for maintenance of normal hearing.