-
1
-
-
0029807805
-
Genes responsible for human hereditary deafness: Symphony of a thousand
-
Petit C: Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996; 14: 385-391.
-
(1996)
Nat Genet
, vol.14
, pp. 385-391
-
-
Petit, C.1
-
3
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP et al Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
-
4
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu X-Z, Walsh J, Mburu P et al: Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16: 188-190.
-
(1997)
Nat Genet
, vol.16
, pp. 188-190
-
-
Liu, X.-Z.1
Walsh, J.2
Mburu, P.3
-
5
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene
-
Weil D, Küssel P, Blanchard S et al: The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16: 191-193.
-
(1997)
Nat Genet
, vol.16
, pp. 191-193
-
-
Weil, D.1
Küssel, P.2
Blanchard, S.3
-
6
-
-
0032577293
-
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
-
Wang A, Liang Y, Fridell RA et al: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1447-1451.
-
(1998)
Science
, vol.280
, pp. 1447-1451
-
-
Wang, A.1
Liang, Y.2
Fridell, R.A.3
-
7
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK et al: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998; 18: 215-217.
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
-
8
-
-
0029145428
-
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
-
Baldwin CT, Weiss S, Farrer LA et al: Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995; 4: 1637-1642.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1637-1642
-
-
Baldwin, C.T.1
Weiss, S.2
Farrer, L.A.3
-
10
-
-
0030047197
-
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23
-
Chaïb H, Place C, Salem N et al: A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 1996; 5: 155-158.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 155-158
-
-
Chaïb, H.1
Place, C.2
Salem, N.3
-
11
-
-
0030054738
-
Mapping of DFNB12, a gene for a non-syndromic autosomal recessive deafness, to chromosome 10q21-22
-
Chaïb H, Place C, Salem N et al: Mapping of DFNB12, a gene for a non-syndromic autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 1996; 5: 1061-1064.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1061-1064
-
-
Chaïb, H.1
Place, C.2
Salem, N.3
-
12
-
-
0031868537
-
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36
-
Mustapha M, Chardenoux S, Nieder A et al: A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. Eur J Hum Genet 1998; 6: 245-250.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 245-250
-
-
Mustapha, M.1
Chardenoux, S.2
Nieder, A.3
-
13
-
-
7144253130
-
Two frequent missense mutations in Pendred syndrome
-
Van Hauwe P, Everett LA, Coucke P et al: Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998; 7: 1099-1104.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1099-1104
-
-
Van Hauwe, P.1
Everett, L.A.2
Coucke, P.3
-
14
-
-
7144261720
-
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
-
Coyle B, Reardon W, Herbrick J-A et al: Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). Hum Mol Genet 1998; 7: 1105-1112.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1105-1112
-
-
Coyle, B.1
Reardon, W.2
Herbrick, J.-A.3
-
15
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17: 411-422.
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
-
16
-
-
0029856858
-
Molecular characterization of human zyxin
-
Macalma T, Otte J, Hensler ME et al: Molecular characterization of human zyxin. J Biol Chem 1996; 271: 31470-31478.
-
(1996)
J Biol Chem
, vol.271
, pp. 31470-31478
-
-
Macalma, T.1
Otte, J.2
Hensler, M.E.3
-
17
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Fauré S, Fizames C et al: A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 380: 152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
-
18
-
-
0028857541
-
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
-
Kruglyak L, Daly MJ, Lander ES: Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 1995; 56: 519-527.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 519-527
-
-
Kruglyak, L.1
Daly, M.J.2
Lander, E.S.3
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