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Abe et al 2000 Prevalent connexin 26 gene (GJB2) mutations in japanese J Med Genet Genet 2000;11:1-3

Abe et al 2001 Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation. Am J Med Genet 2001, 103: 334-8

Adato et al 2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet 2000, 8:437-42

Allon-Shalev et al 2003 The variable expression of non-syndromic hearing loss associated with GBJ2 gene mutations in an isolated population. European Human Genetics Conference 2003 European Society of Human Genetics

Antonarakis et al 1998 Recommendations for a nomenclature system for human gene mutations Hum Mutat 1998;11:1-3

Antoniadi et al 1999 High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness Clin Genet 1999, 55:381-2

Antoniadi et al 2000 Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000, 16:7-12

Ben Arab et al 2000 Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates. Clin genet 2000, 57:439-43

Bottani et al 2003 Connexin-26 (GJB2) missense mutation in Keratitis-Ichthyosis-Deafness (KID) syndrome European Human Genetics Conference 2003 European Society of Human Genetics

Brobby et al 1998 Connexin 26 R143W mutation associated with recessive non-syndromic sensorineural deafness in Africa N Engl J Med 1998, 338:8, 548-50

Brown et al 1996 Linkage studies of non-syndromic recessive deafness (NSRD)in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 1996, 5:169-73

Carrasquillo et al 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations Hum Mol Genet 1997, 6:2163-72

Casademont et al 2000 A simple and reliable method for the detection of the 30delG mutation of the CX26 gene Mol Cell Probes 2000, 14:149-152

Cohn et al 1999 Clinical studies of families with hearing loss attributable to mutations in the Connexin 26 gene (GJB2/DFNB1). Pediatrics 1999, 103, 3:546

Del Castillo et al 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002, 346:243-9

Denoyelle et al 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene Hum Mol Genet 1997, 6:2173-7

Denoyelle et al 1998 Connexin 26 gene linked to a dominant deafness Nature 1998, 393:319-20

Denoyelle et al 1999 Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling Lancet 1999, 353:1298-303

Dong et al 2001 Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab. 2001; 73: 160-3.

Dzhemileva et al 2003 Mutations in the GJB2 and GJB3 genes among patients with inherited nonsindromic deafness from Bashkortostan. European Human Genetics Conference 2003 European Society of Human Genetics

Estivill et al 1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness Lancet 1998, 351:394-8

Feldmann et al 2003 Connexine 26 M34T variant is a frequent polymorphism in France European Human Genetics Conference 2003 European Society of Human Genetics

Feng et al.2002 An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes Chin J Otorhinolaryngol 2002; Vol37, No.5, 348-351

Fialho et al 2003 A novel M163L mutation in GJB2 gene associated with autosomal dominant isolated hearing loss European Human Genetics Conference 2003 European Society of Human Genetics

Frei et al. 2002 Connexin 26 mutations in cases of sensorineural deafness in eastern Austria Eur J Hum Genet 2002 Jul;10(7):427-32

Fuse et al 1999 Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness NeuroReport 1999, 10:1853-1857

Gabriel et al 2001 Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat. 2001; 17: 521-2.

Gabriel et al, 2001 Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population Hum Mutat 2001, 17(6):521-2

Gasparini et al 1997 Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families Eur J Hum Genet 1997, 5:83-8

Gasparini et al 2000 High carrier frequency of the 35delG deafness mutation in European populations Eur J Hum Genet 2000, 8:19-23

Green et al 1999 Carrier rates in the midwestern united states for GJB2 mutations causing inherited deafness JAMA 1999, 281: 2211-16

Grifa et al 1999 Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus Nature Genet 1999, 23:16-8

Griffith et al 2000 Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT Am J Hum Genet 2000, 67:745-9.

Guilford et al 1994 A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q Nat Genet 1994, 6: 24-8.

Guilford et al 1995 A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C) Genomics 1995, 29:163-9

Hamelmann et al 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat. 2001; 18: 84-5.

Heathcote et al 2000 A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis J Med Genet 2000, 37:50-51

Houseman et al 2001 Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 2001, 38:20-25

Iliades et al. 2002 Prelingual Nonsyndromic Hearing Loss in Greece. molecular and clinical findings ORL J Otorhinolaryngol Relat Spec 2002 ;64(5):321-3

Jun et al 2000 Temporal bone histopathology in Connexin 26 related hearing loss Laryngoscope 2000, 110: 269-75

Kelley et al 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998, 62:792-9

Kelley et al 1999 Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 1999, 62:172-6

Kelley et al, 1999 Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12 Genomics 1999, 1;62(2):172-6

Kelsell et al 1997 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature 1997, 387:80-3

Kelsell et al 2000 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family Eur J Hum Genet 2000, 8:141-144

Kenna et al 2001 Connexin 26 Studies in Patients With Sensorineural Hearing Loss. Arch Otolaryngol Head Neck Surg. 2001; 127: 1037-1042.

Kikuchi et al 1995 Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis Anat Embryol 1995, 191:2, 101-18

Kudo et al 2000 Novel mutations in the Connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population Am J Med Genet 2000, 90:141-145

Kupka et al 2002 Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment Hum Mutat 2002;20(1):77-8.

Lamartine et al 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia Nat Genet 2000, 26:142-4

Lamartine et al, 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia Nat Genet 2000, 26(2):142-4

Lefebvre et al 2000 Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene Brain Res Brain Res Rev 2000, 32:159-62.

Lench et al 1998a A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J Med Genet 1998, 35:151-2

Lench et al 1998b Connexin-26 mutations in sporadic non-syndromal sensorineural deafness Lancet 1998, 351:415

Lerer et al 2000 Contribution of connexin 26 mutations to nonsyndromic deafness in ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 2000, 95:53-6

Lerer et al 2001 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat 2001;

Lin et al 2001 Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat. 2001; 18: 42-51.

Liu et al 2000 Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss Hum Mol Genet 2000, 9:63-7

Liu et al 2001 Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 2001, 10: 2945-51

Loffler et al, 2001 Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur J Hum Genet. 2001; 9:226-30.

Lopez-Bigas et al 2000 Identification of seven novel SNPs (five nucleotide and two aminoacid substitutions) in the Connexin31 (GJB3) gene Hum Mut 2000, 15:481-2

Lopez-Bigas et al 2001 Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 2001; 10:947-52.

Lucotte et al 2001 PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France. Mol Cell Probes 2001, 15:57-59

Maestrini et al 1999 A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families Hum Mol Genet 1999, 8:1237-43

Marlin et al 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg. 2001; 127:927-33.

Maw et al 1995 The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population Am J Hum Genet 1995, 57:629-35

McGuirt et al 1999 Connexin 26 as a cause of hereditary hearing loss. Am J Audiol 1999, 8:93-100

Mhatre et al 2003 Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment Clin Genet 2003;63(2):154-9

Mignon et al 1996 Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization Cytogenet Cell Genet 1996, 72:185-6

Minarik et al 2003 Most frequent GJB2 mutations among Slovak Caucasian and Slovak Gypsy patients with non-syndromic hearing loss (NSHL) European Human Genetics Conference 2003 European Society of Human Genetics

Mohseni et al 2003 Mutations of connexin 26 in Iranian population with autosomal recessive sensorineural hearing loss (SNHL) European Human Genetics Conference 2003 European Society of Human Genetics

Morell et al 1998 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness N Engl J Med 1998, 339:1500-5

Morle et al 2000 A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss J Med Genet 2000, 37:368-70

Mueller et al 1999 Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings Int J Pediatr Otorhinolaryngol 1999, 50:3-13

Murgia et al 1999 Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999, 36:829-832

Mustapha et al 2001 Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two J Med Genet 2001; 38: E36.

Mustapha et al 2001 Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation J Med Genet 2001, 38:E36

Nance et al Relation between choice of partner and high frequency of connexin-26 deafness Lancet 2000, 356:500-1.

Oliveira et al. 2002 Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients Clin Genet 2002;61(5):354-8

Pampanos et al. 2002 Prevalence of GJB2 mutations in prelingual deafness in the Greek population Int J Pediatr Otorhinolaryngol 2002 Sep 2;65(2):101-8

Park et al 2000 Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000, 110:1535-8

Prasad et al 2000 Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000, 16:502-8

Primigniani et al 2003 Neurosensory Non Syndromic Deafness: Analysis Of Connexins 26 And 30 In Italian Population European Human Genetics Conference 2003 European Society of Human Genetics

Rabionet et al 2000a Molecular basis of childhood deafness due to mutations in GJB2 (Connexin26) gene Hum Genet 2000, 106:40-44

Rabionet et al 2000b Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins Hum Mutat 2000, 16:190-202

Richard et al 1998a Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma Hum Genet 1998, 103:393-9

Richard et al 1998b Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis Nature Genet 1998, 20:366-9

Richard et al 2000 Connexins: a connection with the skin Exp Dermatol 2000, 9:77-96

Richard et al 2001 The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3 Hum Genet 2001, 106(3):321-9

Richard et al. 2002 Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002, 70(5):1341-8

Rickard et al 2001 Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001; 38: 530-3.

Rouan et al 2001 trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidemrmal differentiation Journal of Cell Science 2001, 114: 2105-2113

Sartorato et al 2000 Determination of the frequency of the 35delG allele in Brazilian neonates. Clin Genet 2000; 58:339-40

Scott et al 1998a Connexin mutations and hearing loss Nature 1998, 391:32

Scott et al 1998b Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss Hum Mutat 1998, 11:5, 387-94

Simsek et al 2001 Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population Hum Mutat 2001, 18: 545-6.

Smith et al. 2002 A novel connexin 30 mutation in Clouston Syndrome J Invest Dermatol 2002;118(3):530-2

Sobe et al 1999 High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim Am J Med Genet 1999, 86:499-500.

Sobe et al 2000 The prevalence and expression of inherited connexin26 mutations associated with non-syndromic hearing loss in the Israeli population Hum Genet 2000, 106:50-57

Storm et al 1999 Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 1999, 14:263-6

Tekin et al 2003 Spectrum of GJB2 mutations amongTurkish individuals with prelingual onset sensorineural hearing loss European Human Genetics Conference 2003 European Society of Human Genetics

Uyguner et al 2003 Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss Clin Genet 2003 Jul;64(1):65-69

Uyguner et al. 2002 The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family Clin Genet 2002 Oct;62(4):306-9

Van Laer et al 2001 A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet. 2001; 38:515-8.

Wang et al. 2002 Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet 2002;10(8):495-8

White et al 1998 Connexin mutations in deafness Nature 1998, 394, 630-1

Wilcox et al 1999 Connexin26 deafness in several interconnected families J Med Genet 1999, 36:383-5.

Wilcox et al 2000 High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000, 106:399-405

Wilcox et al 2000b A simple PCR test to detect the common 35delG mutation in the connexin 26 gene. Mol diagn 2000, 5:75-8

Willecke et al 1990 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Eur J Cell Biol 1990, 53:275-80

Xia et al 1998 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Nature Genet 1998, 20:370-3

Yuge et al. 2002 Identification of 605ins46, a novel GJB2 mutation in a Japanese family Auris Nasus Larynx 2002;29(4):379-82

Zelante et al 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum Mol Genet 1997, 6:1605-9