-
2
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
-
DOI 10.1097/00125817-200207000-00004
-
Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-274 (Pubitemid 44698560)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden, B.K.2
Boyle, C.3
-
3
-
-
33646150467
-
Non-syndromic, autosomal-recessive deafness
-
Petersen M B, Willems P.J. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006;69:371-392
-
(2006)
Clin Genet
, vol.69
, pp. 371-392
-
-
Petersen, M.B.1
Willems, P.J.2
-
4
-
-
70849086570
-
Writing a Brasian city:'race,' culture and religion in accounts of postcolonial Bradford
-
Ali N, Kalra VS, Sayyid S, eds. New York: Columbia University Press
-
McLoughlin S. Writing a Brasian city:'race,' culture and religion in accounts of postcolonial Bradford. In: Ali N, Kalra VS, Sayyid S, eds. A Postcolonial People: South Asians in Britain. New York: Columbia University Press 2008:110-142
-
(2008)
A Postcolonial People: South Asians in Britain
, pp. 110-142
-
-
McLoughlin, S.1
-
5
-
-
0041321501
-
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
-
Maheshwari M., Vijaya R., Ghosh M., et al. Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene:Indian scenario. Am J Med Genet A 2003;120A:180-184 (Pubitemid 37063794)
-
(2003)
American Journal of Medical Genetics
, vol.120 A
, Issue.2
, pp. 180-184
-
-
Maheshwari, M.1
Vijaya, R.2
Ghosh, M.3
Shastri, S.4
Kabra, M.5
Menon, P.S.N.6
-
6
-
-
0043280848
-
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
-
RamShankar M, Girirajan S, Dagan O, et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003;40:e68.
-
(2003)
J Med Genet
, vol.40
-
-
RamShankar, M.1
Girirajan, S.2
Dagan, O.3
-
8
-
-
12744269573
-
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
-
Santos R L, Wajid M., Pham T.L., et al. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 2005;67:61-68
-
(2005)
Clin Genet
, vol.67
, pp. 61-68
-
-
Santos, R.L.1
Wajid, M.2
Pham, T.L.3
-
9
-
-
73949157193
-
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment
-
Padma G., Ramchander P.V., Nandur U.V., et al. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J Genet 2009;88:267-272
-
(2009)
J Genet
, vol.88
, pp. 267-272
-
-
Padma, G.1
Ramchander, P.V.2
Nandur, U.V.3
-
10
-
-
58649105094
-
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
-
Joseph A.Y., Rasool T.J. High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. Int J Pediatr Otorhinolaryngol 2009;73:437-443
-
(2009)
Int J Pediatr Otorhinolaryngol
, vol.73
, pp. 437-443
-
-
Joseph, A.Y.1
Rasool, T.J.2
-
11
-
-
67349178107
-
Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment
-
Bhalla S., Sharma R., Khandelwal G., et al. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Biochem Biophys Res Commun 2009;385:445-448
-
(2009)
Biochem Biophys Res Commun
, vol.385
, pp. 445-448
-
-
Bhalla, S.1
Sharma, R.2
Khandelwal, G.3
-
12
-
-
0034892519
-
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families [2]
-
Rickard S., Kelsell D.P., Sirimana T., et al. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet 2001;38:530-533 (Pubitemid 32751582)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.8
, pp. 530-533
-
-
Rickard, S.1
Kelsell, D.P.2
Sirimana, T.3
Rajput, K.4
MacArdle, B.5
Bitner-Glindzicz, M.6
-
13
-
-
0036396927
-
Hereditary deafness and phenotyping in humans
-
DOI 10.1093/bmb/63.1.73
-
Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002;63:73-94. (Pubitemid 35175752)
-
(2002)
British Medical Bulletin
, vol.63
, pp. 73-94
-
-
Bitner-Glindzicz, M.1
-
14
-
-
49749087912
-
Spectrum of G JB2 mutations causing deafness in the British Bangladeshi population
-
Bajaj Y., Sirimanna T., Albert D.M., et al. Spectrum of G JB2 mutations causing deafness in the British Bangladeshi population. Clin Otolaryngol 2008;33:313-318
-
(2008)
Clin Otolaryngol
, vol.33
, pp. 313-318
-
-
Bajaj, Y.1
Sirimanna, T.2
Albert, D.M.3
-
15
-
-
0023850586
-
The frequency of consanguineous marriage among British Pakistanis
-
Darr A., Modell B. The frequency of consanguineous marriage among British Pakistanis. J Med Genet 1988;25:186-190 (Pubitemid 18082766)
-
(1988)
Journal of Medical Genetics
, vol.25
, Issue.3
, pp. 186-190
-
-
Darr, A.1
Modell, B.2
-
16
-
-
84961433493
-
Recommendation. Descriptors for pure-tone audiograms
-
British Society of Audiology
-
British Society of Audiology. Recommendation. Descriptors for pure-tone audiograms. Br J Audiol 1988;22:123.
-
(1988)
Br J Audiol
, vol.22
, pp. 123
-
-
-
17
-
-
0029187897
-
-
Joint Committee on Infant Hearing 1994 Position Statement. American Academy of Pediatrics Joint committee on Infant Hearing
-
Joint Committee on Infant Hearing 1994 Position Statement. American Academy of Pediatrics Joint committee on Infant Hearing. Pediatrics 1995;95:152-156
-
(1995)
Pediatrics
, vol.95
, pp. 152-156
-
-
-
18
-
-
0029418161
-
Lay understanding of genetic disease: A British study of families attending a genetic counseling service
-
Chapple A., May C., Campion P. Lay understanding of genetic disease: a British study of families attending a genetic counseling service. J Genet Couns 1995;4:281-300.
-
(1995)
J Genet Couns
, vol.4
, pp. 281-300
-
-
Chapple, A.1
May, C.2
Campion, P.3
-
19
-
-
0036435636
-
Intellectual disability and cerebral palsy in a UK community
-
DOI 10.1159/000066337
-
Corry P.C. Intellectual disability and cerebral palsy in a UK community. Community Genet 2002;5:201-204 (Pubitemid 35356684)
-
(2002)
Community Genetics
, vol.5
, Issue.3
, pp. 201-204
-
-
Corry, P.C.1
-
20
-
-
0032877067
-
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - Molecular and audiological findings
-
DOI 10.1016/S0165-5876(99)00242-6, PII S0165587699002426
-
Mueller R F, Nehammer A., Middleton A., et al. Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations-molecular and audiological findings. Int J Pediatr Otorhinolaryngol 1999;50:3-13. (Pubitemid 29476503)
-
(1999)
International Journal of Pediatric Otorhinolaryngology
, vol.50
, Issue.1
, pp. 3-13
-
-
Mueller, R.F.1
Nehammer, A.2
Middleton, A.3
Houseman, M.4
Taylor, G.R.5
Bitner-Glindzciz, M.6
Van Camp, G.7
Parker, M.8
Young, I.D.9
Davis, A.10
Newton, V.E.11
Lench, N.J.12
-
21
-
-
0033839722
-
Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom
-
Parker M J, Fortnum H.M., Young I.D., et al. Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom. Audiology 2000;39:226-231 (Pubitemid 30670226)
-
(2000)
Audiology
, vol.39
, Issue.4
, pp. 226-231
-
-
Parker, M.J.1
Fortnum, H.M.2
Young, I.D.3
Davis, A.C.4
Mueller, R.F.5
-
22
-
-
0034536288
-
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
-
DOI 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4
-
Prasad S., Cucci R.A., Green G.E., et al. G enetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16:502-508 (Pubitemid 32001299)
-
(2000)
Human Mutation
, vol.16
, Issue.6
, pp. 502-508
-
-
Prasad, S.1
Cucci, R.A.2
Green, G.E.3
Smith, R.J.H.4
-
23
-
-
0035375301
-
Mutations in the connexin26/ GJB2 gene are the most common event in non-syndromic hearing loss among the German population
-
Gabriel H., Kupsch P., Sudendey J., et al. Mutations in the connexin26/ GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 2001;17:521-522
-
(2001)
Hum Mutat
, vol.17
, pp. 521-522
-
-
Gabriel, H.1
Kupsch, P.2
Sudendey, J.3
-
24
-
-
0034856656
-
Connexin 26 studies in patients with sensorineural hearing loss
-
Kenna M A, Wu B.L., Cotanche D.A., et al. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037-1042 (Pubitemid 32848178)
-
(2001)
Archives of Otolaryngology - Head and Neck Surgery
, vol.127
, Issue.9
, pp. 1037-1042
-
-
Kenna, M.A.1
Wu, B.-L.2
Cotanche, D.A.3
Korf, B.R.4
Rehm, H.L.5
-
25
-
-
0037209154
-
Evaluation of Cx26 /G JB2 in German hearing impaired persons: Mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and-493del10
-
Zoll B., Petersen L., Lange K., et al. Evaluation of Cx26 /G JB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and-493del10. Hum Mutat 2003;21:98.
-
(2003)
Hum Mutat
, vol.21
, pp. 98
-
-
Zoll, B.1
Petersen, L.2
Lange, K.3
-
26
-
-
0042090621
-
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States
-
DOI 10.1001/archotol.129.8.836
-
Lim L H, Bradshaw J.K., Guo Y., et al. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. Arch Otolaryngol Head Neck Surg 2003;129:836-840 (Pubitemid 36966427)
-
(2003)
Archives of Otolaryngology - Head and Neck Surgery
, vol.129
, Issue.8
, pp. 836-840
-
-
Lim, L.H.Y.1
Bradshaw, J.K.2
Guo, Y.3
Pilipenko, V.4
Madden, C.5
Ingala, D.6
Keddache, M.7
Choo, D.I.8
Wenstrup, R.9
Greinwald Jr., J.H.10
-
27
-
-
5044238154
-
GJB2: The spectrum of deafness-causing allele variants and their phenotype
-
DOI 10.1002/humu.20084
-
Azaiez H., Chamberlin G.P., Fischer S.M., et al. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat 2004;24:305-311 (Pubitemid 39336636)
-
(2004)
Human Mutation
, vol.24
, Issue.4
, pp. 305-311
-
-
Azaiez, H.1
Chamberlin, G.P.2
Fischer, S.M.3
Welp, C.L.4
Prasad, S.D.5
Taggart, R.T.6
Del, C.I.7
Van Camp, G.8
Smith, R.J.H.9
-
29
-
-
33750603199
-
DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
-
DOI 10.1002/ajmg.a.31525
-
Tang H.Y., Fang P., Ward P.A., et al. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A 2006;140:2401-2415 (Pubitemid 44684935)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.22
, pp. 2401-2415
-
-
Tang, H.-Y.1
Fang, P.2
Ward, P.A.3
Schmitt, E.4
Darilek, S.5
Manolidis, S.6
Oghalai, J.S.7
Roa, B.B.8
Alford, R.L.9
-
30
-
-
34547683596
-
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
-
DOI 10.1097/GIM.0b013e3180a03276, PII 0012581720070700000003
-
Putcha G.V., Bejjani B.A., Bleoo S., et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med 2007;9:413-426 (Pubitemid 47222134)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.7
, pp. 413-426
-
-
Putcha, G.V.1
Bejjani, B.A.2
Bleoo, S.3
Booker, J.K.4
Carey, J.C.5
Carson, N.6
Das, S.7
Dempsey, M.A.8
Gastier-Foster, J.M.9
Greinwald Jr., J.H.10
Hoffmann, M.L.11
Jeng, L.J.B.12
Kenna, M.A.13
Khababa, I.14
Lilley, M.15
Mao, R.16
Muralidharan, K.17
Otani, I.M.18
Rehm, H.L.19
Schaefer, F.20
Seltzer, W.K.21
Spector, E.B.22
Springer, M.A.23
Weck, K.E.24
Wenstrup, R.J.25
Withrow, S.26
Wu, B.-L.27
Zariwala, M.A.28
Schrijver, I.29
more..
-
31
-
-
60749110729
-
Hearing loss features in GJB2 biallelic mutations and GJB2 / GJB6 digenic inheritance in a large Italian cohort
-
Cama E., Melchionda S., Palladino T., et al. Hearing loss features in GJB2 biallelic mutations and GJB2 / GJB6 digenic inheritance in a large Italian cohort. Int J Audiol 2009;48:12-17.
-
(2009)
Int J Audiol
, vol.48
, pp. 12-17
-
-
Cama, E.1
Melchionda, S.2
Palladino, T.3
-
32
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations
-
DOI 10.1038/sj.ejhg.5200406
-
Gasparini P., Rabionet R., Barbujani G., et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000;8:19-23. (Pubitemid 30113791)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.1
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
Melchionda, S.4
Petersen, M.5
Brondum-Nielsen, K.6
Metspalu, A.7
Oitmaa, E.8
Pisano, M.9
Fortina, P.10
Zelante, L.11
Estivill, X.12
-
33
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: A multicenter study
-
DOI 10.1086/497996
-
Snoeckx R L, Huygen P.L., Feldmann D., et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945-957 (Pubitemid 41698516)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.6
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.M.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
Mueller-Malesinska, M.7
Pollak, A.8
Ploski, R.9
Murgia, A.10
Orzan, E.11
Castorina, P.12
Ambrosetti, U.13
Nowakowska-Szyrwinska, E.14
Bal, J.15
Wiszniewski, W.16
Janecke, A.R.17
Nekahm-Heis, D.18
Seeman, P.19
Bendova, O.20
Kenna, M.A.21
Frangulov, A.22
Rehm, H.L.23
Tekin, M.24
Incesulu, A.25
Dahl, H.-H.M.26
Du, S.D.27
Jenkins, L.28
Lucas, D.29
Bitner-Glindzicz, M.30
Avraham, K.B.31
Brownstein, Z.32
Del, C.I.33
Moreno, F.34
Blin, N.35
Pfister, M.36
Sziklai, I.37
Toth, T.38
Kelley, P.M.39
Cohn, E.S.40
Van Maldergem, L.41
Hilbert, P.42
Roux, A.-F.43
Mondain, M.44
Hoefsloot, L.H.45
Cremers, C.W.R.J.46
Lopponen, T.47
Lopponen, H.48
Parving, A.49
Gronskov, K.50
Schrijver, I.51
Roberson, J.52
Gualandi, F.53
Martini, A.54
Lina-Granade, G.55
Pallares-Ruiz, N.56
Correia, C.57
Fialho, G.58
Cryns, K.59
Hilgert, N.60
Van De, H.P.61
Nishimura, C.J.62
Smith, R.J.H.63
Van Camp, G.64
more..
-
34
-
-
0029911136
-
Prevalence of sensorineural hearing loss in Asian children
-
Naeem Z., Newton V. Prevalence of sensorineural hearing loss in Asian children. Br J Audiol 1996;30:332-339 (Pubitemid 26379005)
-
(1996)
British Journal of Audiology
, vol.30
, Issue.5
, pp. 332-339
-
-
Naeem, Z.1
Newton, V.2
-
35
-
-
64549119612
-
CaUses of deafness in British Bangladeshi children: A prevalence twice that of the UK population cannot be accounted for by consanguinity alone
-
Bajaj Y., Sirimanna T., Albert D.M., et al. CaUses of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. Clin Otolaryngol 2009;34:113-119
-
(2009)
Clin Otolaryngol
, vol.34
, pp. 113-119
-
-
Bajaj, Y.1
Sirimanna, T.2
Albert, D.M.3
-
36
-
-
18244379313
-
Families affected by deafness: Hospital services uptake in a multiethnic population
-
DOI 10.1136/adc.2003.046631
-
Yoong S.Y., Feltbower R., Spencer N., et al. Families affected by deafness: hospital services uptake in a multiethnic population. Arch Dis Child 2005;90:454-459 (Pubitemid 40627438)
-
(2005)
Archives of Disease in Childhood
, vol.90
, Issue.5
, pp. 454-459
-
-
Yoong, S.Y.1
Feltbower, R.2
Spencer, N.3
McKinney, P.A.4
-
37
-
-
28644439243
-
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - Implications for genetic testing
-
DOI 10.1111/j.1399-0004.2005.00539.x
-
Hutchin T., Coy N.N., Conlon H., et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin Genet 2005;68:506-512 (Pubitemid 41748849)
-
(2005)
Clinical Genetics
, vol.68
, Issue.6
, pp. 506-512
-
-
Hutchin, T.1
Coy, N.N.2
Conlon, H.3
Telford, E.4
Bromelow, K.5
Blaydon, D.6
Taylor, G.7
Coghill, E.8
Brown, S.9
Trembath, R.10
Liu, X.Z.11
Bitner-Glindzicz, M.12
Mueller, R.13
-
38
-
-
80051804732
-
-
accessed 20 November 2010
-
UK Genetic Testing Network. Welcome to the UKGTN. http://www.ukgtn.nhs.uk (accessed 20 November 2010).
-
Welcome to the UKGTN
-
-
-
39
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
-
Hilgert N., Smith R.J., Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-196
-
(2009)
Mutat Res
, vol.681
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.2
Van Camp, G.3
-
40
-
-
77952928392
-
Genetic deafness in Pakistani population
-
Ali G. Genetic deafness in Pakistani population. J Pak Med Assoc 2010;60:418-419
-
(2010)
J Pak Med Assoc
, vol.60
, pp. 418-419
-
-
Ali, G.1
|