Published in Audiol Neurootol on February 07, 2008
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet (2010) 1.10
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family. PLoS One (2013) 1.04
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol (2010) 1.02
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
Touch sense: functional organization and molecular determinants of mechanosensitive receptors. Channels (Austin) (2012) 0.87
A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report. Mol Med Rep (2015) 0.82
The elusive mechanotransduction machinery of hair cells. Curr Opin Neurobiol (2015) 0.82
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. Auris Nasus Larynx (2014) 0.81
Molecular Identity of the Mechanotransduction Channel in Hair Cells: Not Quiet There Yet. J Neurosci (2016) 0.78
Recessive mutations of TMC1 associated with moderate to severe hearing loss. Neurogenetics (2016) 0.76
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. Am J Med Genet A (2015) 0.75
Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran. Iran Red Crescent Med J (2016) 0.75
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Proteomic approaches for discovering biomarkers of diabetic nephropathy. Nephrol Dial Transplant (2010) 1.64
Tag STS in the AZF region associated with azoospermia in a Tunisian population. J Androl (2007) 1.38
Calcific tendinitis of the longus colli: diagnosis by CT. Joint Bone Spine (2007) 1.12
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur J Hum Genet (2008) 1.11
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. Nat Genet (2011) 1.10
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. Eur J Hum Genet (2003) 1.10
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. Genet Test Mol Biomarkers (2009) 1.06
Inactivation of RASSF1A, RARbeta2 and DAP-kinase by promoter methylation correlates with lymph node metastasis in nasopharyngeal carcinoma. Cancer Biol Ther (2009) 1.00
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat (2005) 0.98
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. J Hum Genet (2003) 0.97
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics (2003) 0.96
[Surgical treatment of secondary hyperparathyroidism in patients with chronic renal failure]. Nephrol Ther (2010) 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
PIK3CA amplification is predictive of poor prognosis in Tunisian patients with nasopharyngeal carcinoma. Cancer Sci (2009) 0.95
Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases. Arthritis Res Ther (2009) 0.95
GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol (2007) 0.94
Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol (2004) 0.92
DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects. Rheumatol Int (2009) 0.92
Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: new insight on the role of FOXE1 in thyroid carcinoma. Cancer Biomark (2011) 0.90
Mutation in gap and tight junctions in patients with non-syndromic hearing loss. Biochem Biophys Res Commun (2009) 0.88
Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies. J Clin Immunol (2007) 0.88
Aberrant methylation of p16, DLEC1, BLU and E-cadherin gene promoters in nasopharyngeal carcinoma biopsies from Tunisian patients. Anticancer Res (2008) 0.87
Gene and protein markers of diabetic nephropathy. Nephrol Dial Transplant (2007) 0.87
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. Hum Hered (2005) 0.86
PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study. J Clin Endocrinol Metab (2003) 0.86
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. Hum Genet (2009) 0.85
Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia. Genet Test Mol Biomarkers (2011) 0.85
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. Mol Vis (2010) 0.84
Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population. Ann Hum Genet (2011) 0.83
The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Ann Hum Biol (2009) 0.82
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1. Eur J Hum Genet (2008) 0.82
Association analysis of interleukin gene polymorphisms in autoimmune thyroid diseases in the Tunisian population. Eur Cytokine Netw (2007) 0.82
Polymorphism analysis of Epstein-Barr virus isolates of nasopharyngeal carcinoma biopsies from Tunisian patients. Virus Genes (2007) 0.82
Epigenetic alteration of the Wnt inhibitory factor-1 promoter is common and occurs in advanced stage of Tunisian nasopharyngeal carcinoma. Cancer Invest (2010) 0.81
Identification of candidate regions for a novel Usher syndrome type II locus. Mol Vis (2008) 0.81
Genetic structure of Kuwaiti population revealed by Y-STR diversity. Ann Hum Biol (2010) 0.81
Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men. Ann Genet (2004) 0.80
Analysis of the variability of human normal urine by 2D-GE reveals a "public" and a "private" proteome. J Proteomics (2011) 0.80
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. Eur J Med Genet (2011) 0.80
IL-1β and TSH disturb thyroid epithelium integrity in autoimmune thyroid diseases. Immunobiology (2012) 0.80
Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online (2009) 0.80
No major genes in autoimmune thyroid diseases: complex segregation and epidemiological studies in a large Tunisian pedigree. J Genet (2011) 0.79
Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. Ann Hum Genet (2010) 0.79
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics (2015) 0.79
A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur J Med Genet (2011) 0.79