-
1
-
-
20444497777
-
Sensorineural hearing loss in children
-
Jun. 18-24
-
Rennels M, Pickering LK. Sensorineural hearing loss in children. Lancet. 2005 Jun. 18-24;365(9477):2085-6.
-
(2005)
Lancet.
, vol.365
, Issue.9477
, pp. 2085-2086
-
-
Rennels, M.1
Pickering, L.K.2
-
2
-
-
0027180952
-
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
-
Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U. S. school-age population. Am J Med Genet. 1993 Jun. 15;46(5):486-91. (Pubitemid 23172723)
-
(1993)
American Journal of Medical Genetics
, vol.46
, Issue.5
, pp. 486-491
-
-
Marazita, M.L.1
Ploughman, L.M.2
Rawlings, B.3
Remington, E.4
Arnos, K.S.5
Nance, W.E.6
-
3
-
-
80055117714
-
Hereditary hearing loss: From human mutation to mechanism
-
Nov.
-
Lenz DR, Avraham KB. Hereditary hearing loss: from human mutation to mechanism. Hear Res. 2011 Nov; 281(1-2):3-10.
-
(2011)
Hear Res.
, vol.281
, Issue.1-2
, pp. 3-10
-
-
Lenz, D.R.1
Avraham, K.B.2
-
4
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Sep.
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep; 110(9):1535-8.
-
(2000)
Laryngoscope.
, vol.110
, Issue.9
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
5
-
-
0037390447
-
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness
-
Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, et al. Origins and frequencies of SLC26A4(PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003 Apr, 40 (4):242-8. (Pubitemid 36506436)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.4
, pp. 242-248
-
-
Park, H.-J.1
Shaukat, S.2
Liu, X.-Z.3
Hahn, S.H.4
Naz, S.5
Ghosh, M.6
Kim, H.-N.7
Moon, S.-K.8
Abe, S.9
Tukamoto, K.10
Riazuddin, S.11
Kabra, M.12
Erdenetungalag, R.13
Radnaabazar, J.14
Khan, S.15
Pandya, A.16
Usami, S.-I.17
Nance, W.E.18
Wilcox, E.R.19
Riazuddin, S.20
Griffith, A.J.21
more..
-
6
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
DOI 10.1111/j.1399-0004.2004.00386.x
-
Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet. 2005 Feb; 67(2):160-5. (Pubitemid 40287523)
-
(2005)
Clinical Genetics
, vol.67
, Issue.2
, pp. 160-165
-
-
Park, H.-J.1
Lee, S.-J.2
Jin, H.-S.3
Lee, J.O.4
Go, S.-H.5
Jang, H.S.6
Moon, S.-K.7
Lee, S.-C.8
Chun, Y.-M.9
Lee, H.-K.10
Choi, J.-Y.11
Jung, S.-C.12
Griffith, A.J.13
Koo, S.K.14
-
7
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
DOI 10.1016/S0140-6736(97)11124-2
-
Estivill X, Fbrtina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 1998 Feb. 7;351(9100):394-8. (Pubitemid 28064162)
-
(1998)
Lancet
, vol.351
, Issue.9100
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
8
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
DOI 10.1093/hmg/6.12.2173
-
Denoyelle F. Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997 Nov; 6(12):2173-7. (Pubitemid 27477961)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
Wilcox, S.A.4
Lench, N.J.5
Allen-Powell, D.R.6
Osborn, A.H.7
Dahl, H.-H.M.8
Middleton, A.9
Houseman, M.J.10
Dode, C.11
Marlin, S.12
Boulila-ElGaied, A.13
Grati, M.14
Ayadi, H.15
BenArab, S.16
Bitoun, P.17
Lina-Granade, G.18
Godet, J.19
Mustapha, M.20
Loiselet, J.21
El-Zir, E.22
Aubois, A.23
Joannard, A.24
Levilliers, J.25
Garabedian, E.-N.26
Mueller, R.F.27
Petit, C.28
more..
-
9
-
-
33646706079
-
Newborn hearing screening - A silent revolution
-
DOI 10.1056/NEJMra050700
-
Morton CC, Nance WE. Newborn hearing screening: a silent revolution. N Engl J Med. 2006 May 18;354(20):2151-64. (Pubitemid 43736615)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.20
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
10
-
-
0032773714
-
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
-
Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet. 1999 Aug; 36(8):595-8. (Pubitemid 29368898)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.8
, pp. 595-598
-
-
Reardon, W.1
Coffey, R.2
Chowdhury, T.3
Grossman, A.4
Jan, H.5
Britton, K.6
Kendall-Taylor, P.7
Trembath, R.8
-
11
-
-
0346025681
-
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese
-
DOI 10.1038/sj.ejhg.5201073
-
Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003 Dec; 11(12):916-22. (Pubitemid 38072157)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.12
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
Namba, A.4
Abe, S.5
Usami, S.-I.6
-
12
-
-
84984538388
-
Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations
-
Jul-Aug.
-
Wu CC, Chen PJ, Hsu CJ. Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. Audiol Neurootol. 2005 Jul-Aug; 10(4):234-42.
-
(2005)
Audiol Neurootol.
, vol.10
, Issue.4
, pp. 234-242
-
-
Wu, C.C.1
Chen, P.J.2
Hsu, C.J.3
-
13
-
-
33744496526
-
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
-
DOI 10.1038/sj.ejhg.5201611, PII 5201611
-
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006 Jun; 14(6):773-9. (Pubitemid 43797276)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.6
, pp. 773-779
-
-
Albert, S.1
Blons, H.2
Jonard, L.3
Feldmann, D.4
Chauvin, P.5
Loundon, N.6
Sergent-Allaoui, A.7
Houang, M.8
Joannard, A.9
Schmerber, S.10
Delobel, B.11
Leman, J.12
Journel, H.13
Catros, H.14
Dollfus, H.15
Eliot, M.-M.16
David, A.17
Calais, C.18
Drouin-Garraud, V.19
Obstoy, M.-F.20
Tran Ba Huy, P.21
Lacombe, D.22
Duriez, F.23
Francannet, C.24
Bitoun, P.25
Petit, C.26
Garabedian, E.-N.27
Couderc, R.28
Marlin, S.29
Denoyelle, F.30
more..
-
14
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997 May 1;387(6628):80-3. (Pubitemid 27202653)
-
(1997)
Nature
, vol.387
, Issue.6628
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
15
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
DOI 10.1093/hmg/6.9.1605
-
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Gov-ea N, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness PFNB1) in Mediterraneans. Hum Mol Genet. 1997 Sep; 6(9):1605-9. (Pubitemid 27397040)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.9
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Della Monica, M.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
16
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet. 2000 Jan; 37(1):41-3. (Pubitemid 30245873)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.1
, pp. 41-43
-
-
Abe, S.1
Usami, S.-I.2
Shinkawa, H.3
Kelley, P.M.4
Kimberling, W.J.5
-
17
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
DOI 10.1002/(SICI)1096-8628(2000 0117)90:2<141::AID-AJMG1 0>3.0.CO;2-G
-
Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet. 2000 Jan 17;90(2):141-5. (Pubitemid 30030567)
-
(2000)
American Journal of Medical Genetics
, vol.90
, Issue.2
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
Matsubara, Y.4
Oshima, T.5
Watanabe, K.-I.6
Kawase, T.7
Narisawa, K.8
Takasaka, T.9
-
19
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi jews with nonsyndromic recessive deafness
-
DOI 10.1056/NEJM199811193392103
-
Morell RJ, Kim HJ, Hood U, Goforth L, Friderici K, Fisher R, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med. 1998 Nov. 19;339(21):1500-5. (Pubitemid 28543498)
-
(1998)
New England Journal of Medicine
, vol.339
, Issue.21
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
San Agustin, T.13
Dumon, J.14
-
20
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [4]
-
DOI 10.1056/NEJM199802193380812
-
Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med. 1998 Feb. 19;338(8):548-50. (Pubitemid 28103143)
-
(1998)
New England Journal of Medicine
, vol.338
, Issue.8
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
21
-
-
4344656951
-
Early hearing detection and intervention programs: Opportunities for genetic services
-
White KR. Early hearing detection and intervention programs: opportunities for genetic services. Am J Med Genet A. 2004 Sep. 15; 130 A (1): 29-36. (Pubitemid 39121557)
-
(2004)
American Journal of Medical Genetics
, vol.130 A
, Issue.1
, pp. 29-36
-
-
White, K.R.1
|