| 1 | DFNB1, GJB2
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| Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
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| Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, Romdhane L, Essaid D, Kefi R, Rhimi M, Bedoui M, Dhaouadi A, Feldmann D, Jonard L, Besbes G, Abdelhak S.
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| Gene 525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13.
2013
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| 2 | DFNB1, GJB2
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| Vestibular dysfunction in DFNB1 deafness.
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| Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS.
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| Am J Med Genet A 155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4.
2011
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| 3 | DFNB1, GJB2
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| Temporal bone abnormalities in children with GJB2 mutations.
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| Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD.
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| Laryngoscope 121(3):630-5. doi: 10.1002/lary.21414. Epub 2011 Feb 4.
2011
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| 4 | DFNB1, GJB2, GJB6
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| A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
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| Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.
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| Clin Genet 78(3):267-74.
2010
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| 5 | DFNAC, DFNB1, GJB2, GJB3
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| Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
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| Liu XZ, Yuan Y, Yan D, Ding EH, Ouyang XM, Fei Y, Tang W, Yuan H, Chang Q, Du LL, Zhang X, Wang G, Ahmad S, Kang DY, Lin X, Dai P.
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| Hum Genet 125(1):53-62. Epub 2008 Dec 3.
2009
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| 6 | DFNB1, GJB2
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| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
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| Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G.
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| Eur J Hum Genet 17(4):517-24. Epub 2008 Nov 5.
2009
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| 7 | CLDN14, DFNB1, GJB2, GJB3, GJB6
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| Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
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| Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
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| Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28. 2009
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| 8 | DFNB1, GJB2
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| The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population.
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| Abidi O, Boulouiz R, Nahili H, Imken L, Rouba H, Chafik A, Barakat A.
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| Biochem Biophys Res Commun 377(3):971-4. Epub 2008 Oct 24.
2008
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| 9 | DFNB1, GJB2
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| Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
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| Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, Yang YH, Lee KR.
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| J Hum Genet 53(11-12):1022-8. Epub 2008 Dec 2.
2008
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| 10 | DFNB1, GJB2
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| Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
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| Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID.
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| Am J Med Genet A 143(14):1560-6. 2007
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| 11 | DFNB1, GJB2
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| Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.
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| Welch KO, Marin RS, Pandya A, Arnos KS.
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| Am J Med Genet A 143(14):1567-73. Review. 2007
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| 12 | GJB2, DFNB1
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| M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance.
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| Pollak A, Sk—rka A, Mueller-Malesi–ska M, Kostrzewa G, Kisiel B, Walig—ra J, Krajewski P, O?dak M, Korniszewski L, Skarzy–ski H, Ploski R.
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| Am J Med Genet A 143(21):2534-43. 2007
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| 13 | DFNB1, GJB2, GJB6
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| Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele.
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| Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH.
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| Am J Hum Genet 79(1):174-9. Epub 2006 May 17. 2006
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| 14 | DFNB1, GJB2, GJB6
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| A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
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| Gonzalez JR, Wang W, Ballana E, Estivill X.
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| Hum Mutat 27(11):1135-42. 2006
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| 15 | GJB2, DFNB1
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| GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.
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| Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A.
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| Hear Res 203(1-2):88-93. 2005
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| 16 | DFNB1, GJB1, GJB6
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| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
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| del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.
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| J Med Genet 42(7):588-94. No abstract available. 2005
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| 17 | GJB2, DFNB1
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| High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
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| Alvarez A, del Castillo I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno-Pelayo MA, Moreno F.
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| Am J Med Genet A 137(3):255-8. 2005
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| 18 | DFNB1, DFNB4, DFNB8, DFNB9, DFNB21
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| Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
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| Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R.
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| Clin Genet 68(6):506-12. 2005
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| 19 | DFNB1, GJB2
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| GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.
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| Minarik G, Ferakova E, Ficek A, Polakova H, Kadasi L.
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| Clin Genet 68(6):554-7. No abstract available. 2005
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| 20 | GJB2, GJB6, DFNB1
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| Absent or elevated middle ear muscle reflexes in the presence of normal otoacoustic emissions: a universal finding in 136 cases of auditory neuropathy/dys-synchrony.
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| Berlin CI, Hood LJ, Morlet T, Wilensky D, St John P, Montgomery E, Thibodaux M.
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| J Am Acad Audiol 16(8):546-53. 2005
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| 21 | GJB2, DFNB1
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| GJB2 mutations and degree of hearing loss: a multicenter study.
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| Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.
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| Am J Hum Genet 77(6):945-57. Epub 2005 Oct 19. 2005
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| 22 | GJB2, DFNB1
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| GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
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| Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabedian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Helias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F.
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| Arch Otolaryngol Head Neck Surg 131(6):481-7. 2005
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| 23 | GJB2, DFNB1
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| Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
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| Gazzaz B, Weil D, Rais L, Akhyat O, Azeddoug H, Nadifi S.
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| Hear Res 210(1-2):80-4. Epub 2005 Oct 21. 2005
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| 24 | GJB2, DFNB1
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| The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.
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| Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJ, Najmabadi H.
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| Clin Genet 65(6):506-8. No abstract available. 2004
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| 25 | GJB2, DFNB1
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| Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
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| Common JE, Di WL, Davies D, Kelsell DP.
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| J Med Genet 41(7):573-5. No abstract available. 2004
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| 26 | DFNA3, DFNB1, GJB2, HID, KHM2, KID
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| Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
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| Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A.
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| Hum Mol Genet 12(8):805-12. 2003
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| 27 | DFNB1, GJB2
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| GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
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| Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, Van Camp G, Usami S.
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| Hum Genet 112(4):329-33. Epub 2003 Jan 31. 2003
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| 28 | DFNB1, GJB2
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| Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.
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| Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PS.
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| Am J Med Genet 120A(2):180-4. 2003
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| 29 | GJB1, GJB6, DFNB1
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| Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
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| Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.
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| Am J Hum Genet 73(6):1452-8. Epub 2003 Oct 21. 2003
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| 30 | DFNA3, DFNB1, GJB6
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| A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
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| del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F.
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| N Engl J Med 346(4):243-9. 2002
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| 31 | DFNA3, DFNB1, GJB2
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| Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
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| Oliveira C, Maciel-Guerra A, Sartorato E.
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| Clin Genet 61(5):354-358. 2002
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| 32 | DFNB1, GJB2
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| Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
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| Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID.
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| Clin Genet 61(6):459-64. 2002
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| 33 | DFNB1, GJB2
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| Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
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| Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP.
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| J Med Genet 38(1):20-5. 2001
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| 34 | DFNB1, GJB2
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| High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
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| Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X.
|
| Eur J Hum Genet 8(1):19-23. 2000
|
| 35 | DFNB1, GJB2
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| The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
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| Sobe T, vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB.
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| Hum Genet 106:50-57 2000
|
| 36 | DFNB1
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| High frequency hearing loss correlated with mutations in the GJB2 gene.
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| Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH.
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| Hum Genet 106(4):399-405. 2000
|
| 37 | DFNB1, DFNB4, DFNB9, GJB2, OTOF, SLC26A4
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| 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.
|
| Adato A, Raskin L, Petit C, Bonne-Tamir B.
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| Eur J Hum Genet 8(6):437-42. 2000
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| 38 | DFNB1, GJB2
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| Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
| Prasad S, Cucci RA, Green GE, Smith RJ.
|
| Hum Mutat 16(6):502-8. 2000
|
| 39 | DFNB1
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| Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation.
|
| Pampanos A, Neou P, Iliades T, Apostolopoulos N, Voyiatzis N, Grigoriadou M, Katsichti L, Skevas A, Petersen MB.
|
| Clin Genet 57(3):232-4. No abstract available. 2000
|
| 40 | DFNB1, GJB2
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| Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
|
| Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ, Friedman TB.
|
| Am J Hum Genet 67(3):745-9. 2000
|
| 41 | DFNB1, GJB2
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| Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
|
| Denoyelle F, et al.
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| Lancet 353(9161):1298-303. 1999
|
| 42 | DFNB1, GJB2
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| Connexin26 deafness in several interconnected families.
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| Wilcox SA, et al.
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| J Med Genet 36(5):383-5. 1999
|
| 43 | GJB2, DFNA3, DFNB1
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| Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
| Green GE, et al.
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| JAMA 281(23):2211-6. 1999
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| 44 | DFNB1,GJB2
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| Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.
|
| Storm K, et al.
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| Hum Mutat 14(3):263-266 1999
|
| 45 | DFNA3, DFNB1, GJB2, KHM2
|
| Cx26 deafness: mutation analysis and clinical variability.
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| Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F.
|
| J Med Genet 36(11):829-32 1999
|
| 46 | DFNA3, DFNB1, GJB2
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| Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
|
| Martin PE, L Coleman S, Casalotti SO, Forge A, Evans WH.
|
| Hum Mol Genet 8(13):2369-76 1999
|
| 47 | DFNB1, GJB2
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| Connexin mutations and hearing loss.
|
| Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ.
|
| Nature 391(6662):32. No abstract available. 1998
|
| 48 | DFNB1, GJB2
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| A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
|
| Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G.
|
| J Med Genet 35(2):151-2. 1998
|
| 49 | DFNB1, GJB2
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| Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
|
| Scott DA, et al.
|
| Hum Mutat 11 : 387-394. 1998
|
| 50 | DFNB1, GJB2
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| Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
|
| Kelley PM, et al.
|
| Am J Hum Genet 62 : 792-799. 1998
|
| 51 | DFNB1, GJB2
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| Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
|
| Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB.
|
| N Engl J Med 339 : 1500-1505. 1998
|
| 52 | DFNA3, DFNB1, GJB2
|
| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
|
| Kelsell DP, et al.
|
| Nature 387 : 80-83. 1997
|
| 53 | DFNB1
|
| Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
|
| Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P.
|
| Eur J Hum Genet 5(2):83-8. 1997
|
| 54 | DFNB1, GJB2
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| Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
|
| Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P.
|
| Hum Mol Genet 6(9):1605-9. 1997
|
| 55 | DFNB1, GJB2
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| Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
|
| Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A.
|
| Hum Mol Genet 6(12):2163-72. 1997
|
| 56 | DFNB1, GJB2
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| Prelingual deafness : high prevalence of a 30delG mutation in the connexin 26 gene.
|
| Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al.
|
| Hum Mol Genet 6(12):2173-7. 1997
|
| 57 | DFNB1
|
| Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.
|
| Brown KA, et al.
|
| Hum Mol Genet 5 : 169-173 and 5 : 710 (erratum). 1996
|
| 58 | DFNA3,DFNB1,LGMD2C,TUBA3C
|
| 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).
|
| Guilford P, et al.
|
| Genomics 29 : 163-169. 1995
|
| 59 | DFNB1
|
| Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Isra‘l.
|
| Scott DA, et al.
|
| Am J Hum Genet 57 : 965-968. 1995
|
| 60 | DFNB1
|
| The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.
|
| Maw MA, et al.
|
| Am J Hum Genet 57 : 629-635. 1995
|
| 61 | DFNB1
|
| A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
|
| Guilford P, et al.
|
| Nat Genet 6 : 24-28. 1994
|