Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

von Hilgert, Nele, Smith, Richard J.H., Van Camp, Guy
Veröffentlicht 2008

Function and expression pattern of nonsyndromic deafness genes

von Hilgert, Nele, Smith, Richard J.H., Van Camp, Guy
Veröffentlicht 2009

A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family

von Hilgert, Nele, Kahrizi, Kimia, Najmabadi, Hossein, Dieltjens, Nele, Bazazzadegan, Niloofar, Smith, Richard JH, Van Camp, Guy
Veröffentlicht in J Med Genet (2009)

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment

von Hilgert, Nele, Monahan, Kelly, Kurima, Kiyoto, Li, Cindy, Friedman, Rick A, Griffith, Andrew J, Van Camp, Guy
Veröffentlicht 2009

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

von Van Camp, Guy, Snoeckx, Rikkert L., Hilgert, Nele, van den Ende, Jenneke, Fukuoka, Hisakumi, Wagatsuma, Michio, Suzuki, Hiroaki, Erica Smets, R. M., Vanhoenacker, Filip, Declau, Frank, Van De Heyning, Paul, Usami, Shin-ichi
Veröffentlicht 2006

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

von Naranjo, Silvia, Voesenek, Krysta, de la Calle-Mustienes, Elisa, Robert-Moreno, Alex, Kokotas, Haris, Grigoriadou, Maria, Economides, John, Van Camp, Guy, Hilgert, Nele, Moreno, Felipe, Alsina, Berta, Petersen, Michael B., Kremer, Hannie, Gómez-Skarmeta, José Luis
Veröffentlicht 2010

Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

von Bazazzadegan, Niloofar, Sheffield, Abraham M., Sobhani, Masoomeh, Kahrizi, Kimia, Meyer, Nicole C, Van Camp, Guy, Hilgert, Nele, Abedini, Seyedeh Sedigheh, Habibi, Farkhondeh, Daneshi, Ahmad, Nishimura, Carla, Avenarius, Matthew R., Farhadi, Mohammad, Smith, Richard J.H., Najmabadi, Hossein
Veröffentlicht 2011

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations

von Hilgert, Nele, Alasti, Fatemeh, Dieltjens, Nele, Pawlik, Barbara, Wollnik, Bernd, Uyguner, Oya, Delmaghani, Sedigheh, Weil, Dominique, Petit, Christine, Danis, Evi, Yang, Tao, Pandelia, Efthimia, Petersen, Michael B., Goossens, Dirk, Favero, Jurgen Del, Sanati, Mohammad Hossein, Smith, Richard JH, Van Camp, Guy
Veröffentlicht in Clin Genet (2008)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

von Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
Veröffentlicht 2009

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

von Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy
Veröffentlicht 2005