N
Nele Hilgert
Researcher at University of Antwerp
Publications - 14
Citations - 1563
Nele Hilgert is an academic researcher from University of Antwerp. The author has contributed to research in topics: Hearing loss & Locus (genetics). The author has an hindex of 12, co-authored 14 publications receiving 1432 citations.
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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
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
TL;DR: This ability to analyze most - if not all - deafness genes, as opposed to one or a few genes currently, will greatly improve DNA diagnostics, provide epidemiological data on gene-based mutation frequencies, and reveal novel genotype-phenotype correlations.
Journal ArticleDOI
A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene
Guy Van Camp,Rikkert L. Snoeckx,Nele Hilgert,Jenneke van den Ende,Hisakumi Fukuoka,Michio Wagatsuma,Hiroaki Suzuki,R.M. Erica Smets,Filip Vanhoenacker,Frank Declau,Paul Van de Heyning,Shin-ichi Usami +11 more
TL;DR: COL9A1 is the fourth identified gene that can cause Stickler syndrome with an autosomal recessive inheritance pattern, and this finding will have a major impact on the genetic counseling of patients with Stickler Syndrome and on the understanding of the pathophysiology of collagens.
Journal ArticleDOI
Function and expression pattern of nonsyndromic deafness genes
TL;DR: This review provides an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in hair bundle morphogenesis, highlighting proteins that interact to form macromolecular complexes.
Journal ArticleDOI
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Nele Hilgert,Fatemeh Alasti,Nele Dieltjens,Barbara Pawlik,Bernd Wollnik,Oya Uyguner,Sedigheh Delmaghani,Dominique Weil,Christine Petit,E. Danis,Tao Yang,E. Pandelia,Michael B. Petersen,D. Goossens,J. D. Favero,Mohammad Hossein Sanati,Richard J.H. Smith,G. Van Camp +17 more
TL;DR: Linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non‐syndromic sensorineural hearing loss is described, and mutation analysis of TMC1 was performed in 51 familial Turkish patients with autosomal recessive hearing loss.