N. Hilgert

发表

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

P. Heyning, V. Topsakal, E. Offeciers, 2008, European Journal of Human Genetics.

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

M. Tekin, K. Arnos, A. Pandya, 2009, European Journal of Human Genetics.

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9

G. Van Camp, I. Schrauwen, N. Hilgert, 2008, Human Genetics.

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

J. van den Ende, F. Declau, F. Vanhoenacker, 2006, American journal of human genetics.

Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations

A. Zarowski, V. Topsakal, J. van Dinther, 2009, Audiology and Neurotology.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

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

Richard J. H. Smith, G. Van Camp, N. Hilgert, 2009, Mutation research.

Are MYO1C and MYO1F associated with hearing loss?

X. Estivill, P. Gasparini, M. Carella, 2009, Biochimica et biophysica acta.

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2011, American journal of medical genetics. Part A.

Function and expression pattern of nonsyndromic deafness genes.

Richard J. H. Smith, G. Van Camp, Richard J H Smith, 2009, Current molecular medicine.

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

H. Kremer, J. Economides, J. Gómez-Skarmeta, 2010, Human Genetics.

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

K. Kahrizi, H. Najmabadi, G. Van Camp, 2009, Journal of Medical Genetics.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

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

A. Griffith, G. Camp, N. Hilgert, 2009, Journal of Human Genetics.

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

H. Kremer, J. Economides, J. Gómez-Skarmeta, 2010, Human genetics.