-
1
-
-
4444275884
-
Universal neonatal hearing screening moving from evidence to practice
-
Kennedy C., McCann D. Universal neonatal hearing screening moving from evidence to practice. Arch. Dis. Child. Fetal Neonatal Ed. 2004, 89(5):F378-383.
-
(2004)
Arch. Dis. Child. Fetal Neonatal Ed.
, vol.89
, Issue.5
-
-
Kennedy, C.1
McCann, D.2
-
2
-
-
0035828440
-
Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study
-
Fortnum H.M., Summerfield A.Q., Marshall D.H., Davis A.C., Bamford J.M. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 2001, 323(7312):536-540.
-
(2001)
BMJ
, vol.323
, Issue.7312
, pp. 536-540
-
-
Fortnum, H.M.1
Summerfield, A.Q.2
Marshall, D.H.3
Davis, A.C.4
Bamford, J.M.5
-
3
-
-
30144441419
-
Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss
-
Nance W.E., Lim B.G., Dodson K.M. Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss. J. Clin. Virol. 2006, 35:221-225.
-
(2006)
J. Clin. Virol.
, vol.35
, pp. 221-225
-
-
Nance, W.E.1
Lim, B.G.2
Dodson, K.M.3
-
4
-
-
79952735728
-
-
Massachusetts Universal Newborn Hearing Screening Program, 2004 annual report. 2004 (accessed 18.04.06).
-
Massachusetts Universal Newborn Hearing Screening Program, 2004 annual report. 2004 (accessed 18.04.06). http://www.mass.gov/dph/fch/unhsp/hear_%20screen_04_report.pdf.
-
-
-
-
5
-
-
33646706079
-
Newborn hearing screening-a silent revolution
-
Morton C.C, Nance W.E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
6
-
-
0034644421
-
Genetic testing to identify deaf newborns
-
Green G.E., Smith R.J., Bent J.P., Cohn E.S. Genetic testing to identify deaf newborns. JAMA 2000, 284(10):1245.
-
(2000)
JAMA
, vol.284
, Issue.10
, pp. 1245
-
-
Green, G.E.1
Smith, R.J.2
Bent, J.P.3
Cohn, E.S.4
-
7
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: a multicenter study
-
Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F., Waligora J., et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 2005, 77(6):945-957.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, Issue.6
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
-
8
-
-
33750630301
-
Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness
-
Norris V.W., Arnos K.S., Hanks W.D., Xia X., Nance W.E., Pandya A. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear. 2006, 27(6):732-741.
-
(2006)
Ear Hear.
, vol.27
, Issue.6
, pp. 732-741
-
-
Norris, V.W.1
Arnos, K.S.2
Hanks, W.D.3
Xia, X.4
Nance, W.E.5
Pandya, A.6
-
9
-
-
0033511445
-
Newborn hearing screening: will children with hearing loss caused by congenital cytomegalovirus infection be missed?
-
Fowler K.B., Dahle A.J., Boppana S.B., Pass R.F. Newborn hearing screening: will children with hearing loss caused by congenital cytomegalovirus infection be missed?. J. Pediatr. 1999, 135(1):60-64.
-
(1999)
J. Pediatr.
, vol.135
, Issue.1
, pp. 60-64
-
-
Fowler, K.B.1
Dahle, A.J.2
Boppana, S.B.3
Pass, R.F.4
-
10
-
-
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(2-3):189-196.
-
(2009)
Mutat. Res.
, vol.681
, Issue.2-3
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.2
Van Camp, G.3
-
11
-
-
56149098099
-
Delineating the hearing loss in children with enlarged vestibular aqueduct
-
Zhou G., Gopen Q., Kenna M.A. Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope 2008, 118(11):2062-2066.
-
(2008)
Laryngoscope
, vol.118
, Issue.11
, pp. 2062-2066
-
-
Zhou, G.1
Gopen, Q.2
Kenna, M.A.3
-
12
-
-
34548131103
-
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
-
Wang Q.J., Zhao Y.L., Rao S.Q., Guo Y.F., Yuan H., Zong L., et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 2007, 72(3):245-254.
-
(2007)
Clin. Genet.
, vol.72
, Issue.3
, pp. 245-254
-
-
Wang, Q.J.1
Zhao, Y.L.2
Rao, S.Q.3
Guo, Y.F.4
Yuan, H.5
Zong, L.6
-
13
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993, 4(3):289-294.
-
(1993)
Nat. Genet.
, vol.4
, Issue.3
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.Q.6
-
14
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S., Abe S., Kasai M., Shinkawa H., Moeller B., Kenyon J.B., et al. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997, 107(4):483-490.
-
(1997)
Laryngoscope
, vol.107
, Issue.4
, pp. 483-490
-
-
Usami, S.1
Abe, S.2
Kasai, M.3
Shinkawa, H.4
Moeller, B.5
Kenyon, J.B.6
-
15
-
-
29644446464
-
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
-
Wang Q., Li Q.Z., Han D., Zhao Y., Zhao L., Qian Y., et al. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem. Biophys. Res. Commun. 2006, 340(2):583-588.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, Issue.2
, pp. 583-588
-
-
Wang, Q.1
Li, Q.Z.2
Han, D.3
Zhao, Y.4
Zhao, L.5
Qian, Y.6
-
16
-
-
77952821177
-
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
-
Lu J., Li Z., Zhu Y., Yang A., Li R., Zheng J., et al. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 2010, 10(4):380-390.
-
(2010)
Mitochondrion
, vol.10
, Issue.4
, pp. 380-390
-
-
Lu, J.1
Li, Z.2
Zhu, Y.3
Yang, A.4
Li, R.5
Zheng, J.6
-
17
-
-
70350118018
-
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
-
Yuan Y., You Y., Huang D., Cui J., Wang Y., Wang Q., et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J. Transl. Med. 2009, 7:79.
-
(2009)
J. Transl. Med.
, vol.7
, pp. 79
-
-
Yuan, Y.1
You, Y.2
Huang, D.3
Cui, J.4
Wang, Y.5
Wang, Q.6
-
18
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
-
Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999, 353(9161):1298-1303.
-
(1999)
Lancet
, vol.353
, Issue.9161
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
Moatti, L.4
Chauvin, P.5
Garabedian, E.N.6
-
19
-
-
45849151340
-
Audiological and genetic features of the mtDNA mutations
-
Liu X.Z., Angeli S., Ouyang X.M., Liu W., Ke X.M., Liu Y.H., et al. Audiological and genetic features of the mtDNA mutations. Acta Otolaryngol. 2008, 128(7):732-738.
-
(2008)
Acta Otolaryngol.
, vol.128
, Issue.7
, pp. 732-738
-
-
Liu, X.Z.1
Angeli, S.2
Ouyang, X.M.3
Liu, W.4
Ke, X.M.5
Liu, Y.H.6
-
20
-
-
34848918896
-
Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
-
Ramsebner R., Lucas T., Schoefer C., Ludwig M., Baumgartner W.D., Wachtler F.J., et al. Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Otol. Neurotol. 2007, 28(7):884-886.
-
(2007)
Otol. Neurotol.
, vol.28
, Issue.7
, pp. 884-886
-
-
Ramsebner, R.1
Lucas, T.2
Schoefer, C.3
Ludwig, M.4
Baumgartner, W.D.5
Wachtler, F.J.6
-
21
-
-
0033834029
-
Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs
-
Joint Committee on Infant Hearing
-
Joint Committee on Infant Hearing Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Am. J. Audiol. 2000, 9(1):9-29.
-
(2000)
Am. J. Audiol.
, vol.9
, Issue.1
, pp. 9-29
-
-
-
22
-
-
39349099735
-
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
-
Guo Y.F., Liu X.W., Guan J., Han M.K., Wang D.Y., Zhao Y.L., et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008, 128(3):297-303.
-
(2008)
Acta Otolaryngol.
, vol.128
, Issue.3
, pp. 297-303
-
-
Guo, Y.F.1
Liu, X.W.2
Guan, J.3
Han, M.K.4
Wang, D.Y.5
Zhao, Y.L.6
-
23
-
-
65649116240
-
GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
-
Dai P., Yu F., Han B., Liu X., Wang G., Li Q., et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J. Transl. Med. 2009, 7(1):26.
-
(2009)
J. Transl. Med.
, vol.7
, Issue.1
, pp. 26
-
-
Dai, P.1
Yu, F.2
Han, B.3
Liu, X.4
Wang, G.5
Li, Q.6
-
24
-
-
84984564081
-
Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities
-
Wu C.C., Chen P.J., Chiu Y.H., Lu Y.C., Wu M.C., Hsu C.J. Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities. Audiol. Neurootol. 2008, 13(3):172-181.
-
(2008)
Audiol. Neurootol.
, vol.13
, Issue.3
, pp. 172-181
-
-
Wu, C.C.1
Chen, P.J.2
Chiu, Y.H.3
Lu, Y.C.4
Wu, M.C.5
Hsu, C.J.6
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