Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Nele Hilgert"'
Autor:
Farkhondeh Habibi, Guy Van Camp, Nicole C. Meyer, Nele Hilgert, Abraham M. Sheffield, Richard J.H. Smith, Matthew R. Avenarius, Ahmad Daneshi, Niloofar Bazazzadegan, Hossein Najmabadi, Carla Nishimura, Masoomeh Sobhani, Kimia Kahrizi, Seyedeh Sedigheh Abedini, Mohammad Farhadi
Publikováno v:
American journal of medical genetics : part A
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause autosomal recessive nonsynd
Autor:
Àlex Robert-Moreno, Krysta Voesenek, Silvia Naranjo, José Luis Gómez-Skarmeta, Hannie Kremer, John Economides, Elisa de la Calle-Mustienes, Berta Alsina, Haris Kokotas, Maria Grigoriadou, Nele Hilgert, Guy Van Camp, Michael B. Petersen, Felipe Moreno
Publikováno v:
Human Genetics
Human Genetics, 128, 411-9
Human Genetics, 128, 4, pp. 411-9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya
Human genetics
Human Genetics, 128, 411-9
Human Genetics, 128, 4, pp. 411-9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya
Human genetics
9 páginas, 4 figuras.-- This article is distributed under the terms of the Creative Commons Attribution Noncommercial License.-- et al.
POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 funct
POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 funct
Autor:
Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria
Publikováno v:
European journal of immunogenetics
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being th
Autor:
J. D. Favero, D. Goossens, Dominique Weil, Tao Yang, Barbara Pawlik, Sedigheh Delmaghani, Bernd Wollnik, Oya Uyguner, E. Pandelia, Nele Hilgert, Fatemeh Alasti, Richard J.H. Smith, Michael B. Petersen, G. Van Camp, Nele Dieltjens, E. Danis, Christine Petit, Mohammad Hossein Sanati
Publikováno v:
Clinical genetics
Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 ge
Autor:
Paul Van de Heyning, Joost van Dinther, Guy Van Camp, Andrzej Zarowski, Vedat Topsakal, Nele Hilgert, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Erwin Offeciers
Publikováno v:
Audiology and neuro-otology
Universiteits-Biblioteek Your Subscriptions Logo Vol. 15, No. 4, 2010 Free Abstract Article (Fulltext) Article (PDF 406 KB) Original Paper Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive S
Publikováno v:
Current molecular medicine
Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overvi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74192958502218dfb3ee2ada664492c1
https://europepmc.org/articles/PMC2840995/
https://europepmc.org/articles/PMC2840995/
Autor:
G. Van Camp, Nele Dieltjens, Richard J.H. Smith, Nele Hilgert, Hossein Najmabadi, Niloofar Bazazzadegan, Kimia Kahrizi
Publikováno v:
Journal of medical genetics
Background: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6960ec20e5bf2d6a29d56589bc5b97ea
https://europepmc.org/articles/PMC4432478/
https://europepmc.org/articles/PMC4432478/
Autor:
Nele, Hilgert
Publikováno v:
Human genetics. 125(3)
Autor:
Rick A. Friedman, Nele Hilgert, Guy Van Camp, Cindy Li, Kiyoto Kurima, Andrew J. Griffith, Kelly Monahan
Publikováno v:
Journal of human genetics
Two different missense mutations, p.D572N and p.D572H, affecting the same nucleotide and codon of the TMC1 gene were earlier reported to cause autosomal dominant hearing impairment at locus DFNA36 in two North American families. No other dominant mut
Autor:
Nele Hilgert, Cristina Zadro, Xavier Estivill, Leopoldo Zelante, Maria Stella Alemanno, Massimo Carella, Emanuele Bellacchio, Guy Van Camp, Paolo Gasparini, Raquel Rabionet, Salvatore Melchionda, Francesca Donaudy, Romina Ficarella
Publikováno v:
Biochimica et biophysica acta : molecular basis of disease
The role of myosins in the pathogenesis of hearing loss is well established: five genes encoding unconventional myosins and two genes encoding nonmuscle conventional myosins have so far been described to be essential for normal auditory function and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::283bf8f44948af08cd7d7ca4e11e4a21
https://hdl.handle.net/11368/2935152
https://hdl.handle.net/11368/2935152