-
2
-
-
33646706079
-
Newborn hearing screening - A silent revolution
-
DOI 10.1056/NEJMra050700
-
Morton CC, Nance WE: Newborn hearing screening-a silent revolution. N Engl JMed 2006;354: 2151-2164. (Pubitemid 43736615)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.20
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
3
-
-
0036021043
-
Non-syndromic recessive deafness in Jordan: Mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations
-
DOI 10.1038/sj.ejhg.5200813
-
Medlej-Hashim M, Mustapha M, Chouery E et al: Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. Eur J Hum Genet 2002;10: 391-394. (Pubitemid 34812296)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.6
, pp. 391-394
-
-
Medlej-Hashim, M.1
Mustapha, M.2
Chouery, E.3
Weil, D.4
Parronaud, J.5
Salem, N.6
Delague, V.7
Loiselet, J.8
Lathrop, M.9
Petit, C.10
Megarbane, A.11
-
4
-
-
57649185370
-
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1
-
Belguith H, Masmoudi S, Medlej-Hashim M et al: Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1. Eur J Hum Genet 2009;17: 122-124.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 122-124
-
-
Belguith, H.1
Masmoudi, S.2
Medlej-Hashim, M.3
-
5
-
-
0024427198
-
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood
-
Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A: A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989;17: 8390. (Pubitemid 19267198)
-
(1989)
Nucleic Acids Research
, vol.17
, Issue.20
, pp. 8390
-
-
Grimberg, J.1
Nawoschik, S.2
Belluscio, L.3
McKee, R.4
Turck, A.5
Eisenberg, A.6
-
6
-
-
0029946879
-
Faster linkage analysis computations for pedigrees with loops or unused alleles
-
Schaffer AA: Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 1996;46: 226-235. (Pubitemid 26185334)
-
(1996)
Human Heredity
, vol.46
, Issue.4
, pp. 226-235
-
-
Schaffer, A.A.1
-
7
-
-
0036510053
-
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
-
Kurima K, Peters LM, Yang Y et al: Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 2002;30: 277-284.
-
(2002)
Nat Genet
, vol.30
, pp. 277-284
-
-
Kurima, K.1
Peters, L.M.2
Yang, Y.3
-
8
-
-
0043168114
-
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
-
DOI 10.1038/ng1208
-
Mburu P, Mustapha M, Varela A et al: Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 2003;34: 421-428. (Pubitemid 36935335)
-
(2003)
Nature Genetics
, vol.34
, Issue.4
, pp. 421-428
-
-
Mburu, P.1
Mustapha, M.2
Varela, A.3
Weil, D.4
El-Amraoui, A.5
Holme, R.H.6
Rump, A.7
Hardisty, R.E.8
Blanchard, S.9
Coimbra, R.S.10
Perfettini, I.11
Parkinson, N.12
Mallon, A.-M.13
Glenister, P.14
Rogers, M.J.15
Paige, A.J.16
Moir, L.17
Clay, J.18
Rosenthal, A.19
Liu, X.Z.20
Blanco, G.21
Steel, K.P.22
Petit, C.23
Brown, S.D.M.24
more..
-
9
-
-
85047695792
-
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
-
DOI 10.1038/sj/ejhg/5200780
-
Mustapha M, Chouery E, Chardenoux S et al: DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet 2002;10: 210-212. (Pubitemid 34449719)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.3
, pp. 210-212
-
-
Mustapha, M.1
Chouery, E.2
Chardenoux, S.3
Naboulsi, M.4
Paronnaud, J.5
Lemainque, A.6
Megarbane, A.7
Loiselet, J.8
Weil, D.9
Lathrop, M.10
Petit, C.11
-
10
-
-
0037299346
-
A new locus (DFNA47) for autosomal dominant nonsyndromic inherited hearing loss maps to 9p21-22 in a large Italian family
-
DOI 10.1038/sj.ejhg.5200929
-
D'Adamo P, Donaudy F, D'Eustacchio A, Di Iorio E, Melchionda S, Gasparini P: A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. Eur J Hum Genet 2003;11: 121-124. (Pubitemid 36372385)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.2
, pp. 121-124
-
-
D'Adamo, P.1
Donaudy, F.2
D'Eustacchio, A.3
Di Iorio, E.4
Melchionda, S.5
Gasparini, P.6
-
11
-
-
33845985328
-
Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear
-
DOI 10.1016/j.ygeno.2006.09.006, PII S0888754306002722
-
Peters LM, Belyantseva IA, Lagziel A, Battey JF, Friedman TB, Morell RJ: Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear. Genomics 2007;89: 197-206. (Pubitemid 46048965)
-
(2007)
Genomics
, vol.89
, Issue.2
, pp. 197-206
-
-
Peters, L.M.1
Belyantseva, I.A.2
Lagziel, A.3
Battey, J.F.4
Friedman, T.B.5
Morell, R.J.6
-
12
-
-
29244448344
-
The sensory and motor roles of auditory hair cells
-
DOI 10.1038/nrn1828
-
Fettiplace R, Hackney CM: The sensory and motor roles of auditory hair cells. Nat Rev Neurosci 2006;7: 19-29. (Pubitemid 41828928)
-
(2006)
Nature Reviews Neuroscience
, vol.7
, Issue.1
, pp. 19-29
-
-
Fettiplace, R.1
Hackney, C.M.2
-
13
-
-
0031822009
-
2+-atpase gene cause deafness in deafwaddler mice
-
DOI 10.1038/1284
-
Street VA, McKee-Johnson JW, Fonseca RC, Tempel BL, Noben-Trauth K: Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. Nat Genet 1998;19: 390-394. (Pubitemid 28357914)
-
(1998)
Nature Genetics
, vol.19
, Issue.4
, pp. 390-394
-
-
Street, V.A.1
McKee-Johnson, J.W.2
Fonseca, R.C.3
Tempel, B.L.4
Noben-Trauth, K.5
-
14
-
-
33845536960
-
Notch signaling and cell fate determination in the vertebrate inner ear. Chapter 3 in development of the inner ear
-
Kelley MW, Wu DK, Popper AN, Fay RR (eds) Springer: New York
-
Lanford PJ, Kelley MW: Notch signaling and cell fate determination in the vertebrate inner ear. Chapter 3 in development of the inner ear. in Kelley MW, Wu DK, Popper AN, Fay RR (eds): Springer Handbook of Auditory Research. Springer: New York, 2005. vol 26, pp 122-157.
-
(2005)
Springer Handbook of Auditory Research
, vol.26
, pp. 122-157
-
-
Lanford, P.J.1
Kelley, M.W.2
-
15
-
-
67349223927
-
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
-
Mencia A, Modamio-Hoybjor S, Redshaw N et al: Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 2009;41: 609-613.
-
(2009)
Nat Genet
, vol.41
, pp. 609-613
-
-
Mencia, A.1
Modamio-Hoybjor, S.2
Redshaw, N.3
-
16
-
-
67349132265
-
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice
-
Lewis MA, Quint E, Glazier AM et al: An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 2009;41: 614-618.
-
(2009)
Nat Genet
, vol.41
, pp. 614-618
-
-
Lewis, M.A.1
Quint, E.2
Glazier, A.M.3
|