-
1
-
-
0031626842
-
Newborn hearing screening: The great omission
-
Mehl AL, Thomson V. Newborn hearing screening: The great omission. Pediatrics 1998;101:E4.
-
(1998)
Pediatrics
, vol.101
-
-
Mehl, A.L.1
Thomson, V.2
-
2
-
-
0036363375
-
The Colorado newborn hearing-screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening
-
Mehl AL, Thomson V. The Colorado newborn hearing-screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002;109:E7.
-
(2002)
Pediatrics
, vol.109
-
-
Mehl, A.L.1
Thomson, V.2
-
3
-
-
0001639812
-
Epidemiology, etiology, and genetic patterns
-
Gorlin RJ, Toriello HV, Cohen Jr MM, editors: UK, Oxford: Oxford University Press
-
Cohen MM, Gorlin RJ. Epidemiology, etiology, and genetic patterns; in Gorlin RJ, Toriello HV, Cohen Jr MM, editors: Hereditary Hearing Loss and its Syndromes. UK, Oxford: Oxford University Press; 1995. p. 9-21.
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 9-21
-
-
Cohen, M.M.1
Gorlin, R.J.2
-
4
-
-
0033671717
-
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
-
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genet 2000;26:431-4.
-
(2000)
Nature Genet
, vol.26
, pp. 431-434
-
-
Riazuddin, S.1
Castelein, C.M.2
Ahmed, Z.M.3
Lalwani, A.K.4
Mastroianni, M.A.5
Naz, S.6
-
6
-
-
0028249690
-
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
Guilford P, Ben AS, Blanchard S, Levilliers J, Weissenbach J, et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994; 6:24-8.
-
(1994)
Nat Genet
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Ben, A.S.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
-
7
-
-
0036654536
-
GJB2 (Connexin26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
-
Kenneson A, Van Naarden BK, Boyle C. GJB2 (Connexin26) variants and nonsyndromic sensorineural hearing loss: A HuGE review, Genet Med 2002;4:258-74.
-
(2002)
Genet Med
, vol.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden, B.K.2
Boyle, C.3
-
8
-
-
0041753833
-
Hearing Loss and Mitochondrial DNA Mutations: Clinical Implications and Biological Lessons
-
Ed. Keats BJB, Popper AN, Fay RR. New York: Springer
-
Fischel-Ghodasian N. Hearing Loss and Mitochondrial DNA Mutations: Clinical Implications and Biological Lessons. In Genetics and Auditory Disorders, Ed. Keats BJB, Popper AN, Fay RR. New York: Springer; 2002. p. 228-46.
-
(2002)
Genetics and Auditory Disorders
, pp. 228-246
-
-
Fischel-Ghodasian, N.1
-
9
-
-
0344167734
-
Cosegregation of C-Insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
-
Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, et al. Cosegregation of C-Insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet 2004;124A:113-7.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 113-117
-
-
Li, R.1
Xing, G.2
Yan, M.3
Cao, X.4
Liu, X.Z.5
Bu, X.6
-
10
-
-
0031900032
-
Evidence for a medial KC recycling pathway from inner hair cells
-
Spicer SS, Schulte BA. Evidence for a medial KC recycling pathway from inner hair cells. Hear Res 1998;118:11-2.
-
(1998)
Hear Res
, vol.118
, pp. 11-12
-
-
Spicer, S.S.1
Schulte, B.A.2
-
11
-
-
0033981041
-
Temporal bone histopathology in connexin 26 related hearing loss
-
Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJ. Temporal bone histopathology in connexin 26 related hearing loss. Laryngoscope 2000;110:269-75.
-
(2000)
Laryngoscope
, vol.110
, pp. 269-275
-
-
Jun, A.I.1
McGuirt, W.T.2
Hinojosa, R.3
Green, G.E.4
Fischel-Ghodsian, N.5
Smith, R.J.6
-
12
-
-
9044254521
-
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, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, et al. 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.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 169-173
-
-
Brown, K.A.1
Janjua, A.H.2
Karbani, G.3
Parry, G.4
Noble, A.5
Crockford, G.6
-
13
-
-
12644276408
-
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families
-
Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, et al. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. Eur J Hum Genet 1997;5:83-8.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 83-88
-
-
Gasparini, P.1
Estivill, X.2
Volpini, V.3
Totaro, A.4
Castellvi-Bel, S.5
-
14
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry, et al: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry6
-
15
-
-
0029166965
-
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population
-
Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, et al. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 1995;57:629-35.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 629-635
-
-
Maw, M.A.1
Allen-Powell, D.R.2
Goodey, R.J.3
Stewart, I.A.4
Nancarrow, D.J.5
-
16
-
-
0029162902
-
Non-syndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel
-
Scott DA, Carrni R, Elbedour K, Duyk GM, Stone EM, Sheffield VC. Non-syndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet 1995;57:965-8.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 965-968
-
-
Scott, D.A.1
Carrni, R.2
Elbedour, K.3
Duyk, G.M.4
Stone, E.M.5
Sheffield, V.C.6
-
18
-
-
0031835820
-
Estimation of genetic load in cases with profound congenital nonsyndromic hearing impairment
-
Archana B, Vishnupriya S, Nandur VU, Reddy AP, Padma T. Estimation of genetic load in cases with profound congenital nonsyndromic hearing impairment. Med Sci Res 1998;26:353-5.
-
(1998)
Med Sci Res
, vol.26
, pp. 353-355
-
-
Archana, B.1
Vishnupriya, S.2
Nandur, V.U.3
Reddy, A.P.4
Padma, T.5
-
19
-
-
0043280848
-
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
-
RamShankar M, Girirajan S, Dagan O, Ravi Shankar H M, Jalvi R, Rangasayee R, 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
Ravi Shankar, H.M.4
Jalvi, R.5
Rangasayee, R.6
-
20
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri DK, Nurnberger JRJ. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger, J.R.J.2
-
21
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998;11:387-94.
-
(1998)
Hum Mutat
, vol.11
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
-
22
-
-
0034614011
-
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
-
Lerer I, Sagi M, Malamud E, Levi H, Rothschild AR, Abeliovich D. 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.
-
(2000)
Am J Med Genet
, vol.95
, pp. 53-56
-
-
Lerer, I.1
Sagi, M.2
Malamud, E.3
Levi, H.4
Rothschild, A.R.5
Abeliovich, D.6
-
23
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure SMY, 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;90:141-5.
-
(2000)
Am J Med Genet
, vol.90
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.M.Y.3
Oshima, T.4
Watanabe, K.5
-
24
-
-
0030696315
-
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. 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.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
25
-
-
0031933645
-
Connexin mutations and hearing loss
-
Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJH. Connexin mutations and hearing loss. Nature 1998;391:32.
-
(1998)
Nature
, vol.391
, pp. 32
-
-
Scott, D.A.1
Kraft, M.L.2
Stone, E.M.3
Sheffield, V.C.4
Smith, R.J.H.5
-
26
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
-
27
-
-
3643059295
-
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, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-5.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher6
-
28
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535-8.
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
29
-
-
0038237455
-
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
-
Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003;112:329-33.
-
(2003)
Hum Genet
, vol.112
, pp. 329-333
-
-
Ohtsuka, A.1
Yuge, I.2
Kimura, S.3
Namba, A.4
Abe, S.5
Van Laer, L.6
-
30
-
-
0041321501
-
Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian Scenario
-
Maheswari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PSN. Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian Scenario. Am J Med Genet 2003;120A:180-4.
-
(2003)
Am J Med Genet
, vol.120 A
, pp. 180-184
-
-
Maheswari, M.1
Vijaya, R.2
Ghosh, M.3
Shastri, S.4
Kabra, M.5
Menon, P.S.N.6
-
31
-
-
2542482799
-
Molecular Epidemiology of DFNB1 deafness in France
-
Roux AF, Pallares-Ruiz N, Vielle A, Faugere V, Templin C, Leprevost D. Molecular Epidemiology of DFNB1 deafness in France. BMC Medical Genetics 2004;5:5.
-
(2004)
BMC Medical Genetics
, vol.5
, pp. 5
-
-
Roux, A.F.1
Pallares-Ruiz, N.2
Vielle, A.3
Faugere, V.4
Templin, C.5
Leprevost, D.6
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