Published in Hum Genet on January 26, 2008
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Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. Hum Genet (2009) 0.81
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Gene expression analysis of human otosclerotic stapedial footplates. Hear Res (2008) 0.76
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A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet (2001) 0.94
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No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. J Laryngol Otol (2007) 0.75
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
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A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med (2013) 1.75
Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study. J Assoc Res Otolaryngol (2008) 1.73
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet (2003) 1.60
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The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet (2007) 1.52
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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet (2006) 1.51
GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet (2008) 1.49
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Tissue Doppler imaging does not show infraclinical alteration of myocardial function after contrast echocardiography. Eur J Echocardiogr (2005) 1.38
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat (2008) 1.35
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem (2004) 1.32
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A (2004) 1.32
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics (2012) 1.32
Genetic studies on noise-induced hearing loss: a review. Ear Hear (2009) 1.30
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet (2006) 1.25
Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects. Exp Gerontol (2003) 1.25
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am J Med Genet A (2012) 1.24
Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell. Hear Res (2011) 1.23
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet (2002) 1.23
A genome-wide association study for age-related hearing impairment in the Saami. Eur J Hum Genet (2010) 1.19
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet (2010) 1.18
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol (2003) 1.17
Audiometric shape and presbycusis. Int J Audiol (2009) 1.15
Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet A (2009) 1.14
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat (2011) 1.13
Association of right heart thrombosis, endomyocardial fibrosis, and pulmonary artery aneurysm in Behçet's disease. Eur J Intern Med (2002) 1.12
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet (2007) 1.08
Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res (2008) 1.07
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat (2006) 1.07
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet (2008) 1.07
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. Eur J Hum Genet (2003) 1.05
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. Eur J Hum Genet (2011) 1.03
Possible association between 3,4-methylenedioxymethamphetamine abuse and valvular heart disease. Am J Cardiol (2007) 1.03
GJB2: the spectrum of deafness-causing allele variants and their phenotype. Hum Mutat (2004) 1.03
The role of connexins in human disease. Ear Hear (2003) 1.02
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology (2016) 1.02
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet (2008) 1.01
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Neurobiol Dis (2005) 1.01
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations. Hum Mol Genet (2007) 1.01
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A (2007) 1.00
Nonsyndromic hearing loss. Ear Hear (2003) 1.00
Deafness genes and their diagnostic applications. Audiol Neurootol (2003) 1.00
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol (2007) 0.99
Effects of valve replacement for aortic stenosis on mitral regurgitation. Am J Cardiol (2008) 0.99
Second harmonic transthoracic echocardiography: the new reference screening method for the detection of patent foramen ovale. Eur J Echocardiogr (2004) 0.98
Short course radiotherapy with simultaneous integrated boost for stage I-II breast cancer, early toxicities of a randomized clinical trial. Radiat Oncol (2012) 0.97
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet (2012) 0.97
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. Eur J Hum Genet (2008) 0.97
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Mucormycosis: four case reports. Tunis Med (2008) 0.97
Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet (2008) 0.96
Importance of left ventricular longitudinal function and functional reserve in patients with degenerative mitral regurgitation: assessment by two-dimensional speckle tracking. J Am Soc Echocardiogr (2008) 0.96
A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. Biochim Biophys Acta (2003) 0.96
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers (2010) 0.96
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. J Hum Genet (2009) 0.96
A novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum Genet (2007) 0.95
Are MYO1C and MYO1F associated with hearing loss? Biochim Biophys Acta (2008) 0.95
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg (2003) 0.95
The etiology of otosclerosis: a combination of genes and environment. Laryngoscope (2010) 0.94
Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study. Otol Neurotol (2002) 0.94
The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. Otol Neurotol (2007) 0.94
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet (2007) 0.94
A novel Z-score-based method to analyze candidate genes for age-related hearing impairment. Ear Hear (2004) 0.93
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Audiol Neurootol (2003) 0.93
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A (2013) 0.93
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations. Eur J Hum Genet (2008) 0.93
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome. Neurobiol Dis (2006) 0.92
Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol (2004) 0.92
Prevalence of mechanical dyssynchrony in patients with heart failure and preserved left ventricular function (a report from the Belgian Multicenter Registry on dyssynchrony). Am J Cardiol (2005) 0.92
Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. Ann Hum Genet (2009) 0.91
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet (2008) 0.91