-
1
-
-
0035168168
-
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
-
Bork J, Peters L, Riazuddin S, Bernstein S, Ahmed Z, Ness S, Polomeno R, Ramesh A, Schloss M, Srisailpathy C, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan S, Kaloustian V, Li X, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance W, Liu X, Wistow G, Smith R, Griffith A, Wilcox E, Friedman T, Morell R (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 68:26-37
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 26-37
-
-
Bork, J.1
Peters, L.2
Riazuddin, S.3
Bernstein, S.4
Ahmed, Z.5
Ness, S.6
Polomeno, R.7
Ramesh, A.8
Schloss, M.9
Srisailpathy, C.10
Wayne, S.11
Bellman, S.12
Desmukh, D.13
Ahmed, Z.14
Khan, S.15
Kaloustian, V.16
Li, X.17
Lalwani, A.18
Riazuddin, S.19
Bitner-Glindzicz, M.20
Nance, W.21
Liu, X.22
Wistow, G.23
Smith, R.24
Griffith, A.25
Wilcox, E.26
Friedman, T.27
Morell, R.28
more..
-
2
-
-
0020619770
-
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
-
Boughman J, Vernon M, Shaver K (1983) Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 36:595-603
-
(1983)
J. Chronic. Dis.
, vol.36
, pp. 595-603
-
-
Boughman, J.1
Vernon, M.2
Shaver, K.3
-
3
-
-
0023091261
-
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
-
Grondahl J (1987) Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 31:255-264
-
(1987)
Clin. Genet.
, vol.31
, pp. 255-264
-
-
Grondahl, J.1
-
4
-
-
7944229728
-
Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study
-
Hallgren B (1959) Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatr Scand [Suppl] 138:5-101
-
(1959)
Acta Psychiatr. Scand.
, vol.138
, Issue.SUPPL.
, pp. 5-101
-
-
Hallgren, B.1
-
5
-
-
0031014526
-
Usher syndrome in the city of Birmingham - Prevalence and clinical classification
-
Hope C, Bundey S, Proops D, Fielder A (1997) Usher syndrome in the city of Birmingham - prevalence and clinical classification. Br J Ophthalmol 81:46-53
-
(1997)
Br. J. Ophthalmol.
, vol.81
, pp. 46-53
-
-
Hope, C.1
Bundey, S.2
Proops, D.3
Fielder, A.4
-
6
-
-
0029202639
-
Clinical and molecular genetics of Usher syndrome
-
Kimberling W, Moller C (1995) Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 6:63-72
-
(1995)
J. Am. Acad. Audiol.
, vol.6
, pp. 63-72
-
-
Kimberling, W.1
Moller, C.2
-
8
-
-
0014780501
-
Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): A study of the Usher or Hallgren syndrome
-
Nuutila A (1970) Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): A study of the Usher or Hallgren syndrome. J Genet Hum 18:57-88
-
(1970)
J. Genet. Hum.
, vol.18
, pp. 57-88
-
-
Nuutila, A.1
-
9
-
-
0024269064
-
Retinitis pigmentosa
-
Pagon R (1988) Retinitis pigmentosa. Surv Ophthalmol 33:137-177
-
(1988)
Surv. Ophthalmol.
, vol.33
, pp. 137-177
-
-
Pagon, R.1
-
10
-
-
0029556660
-
The ophthalmological course of Usher syndrome type III
-
Pakarinen L, Tuppurainen K, Laippala P, Mantyjarvi M, Puhakka H (1995-96) The ophthalmological course of Usher syndrome type III. Int Ophthalmol 19:307-311
-
(1995)
Int. Ophthalmol.
, vol.19
, pp. 307-311
-
-
Pakarinen, L.1
Tuppurainen, K.2
Laippala, P.3
Mantyjarvi, M.4
Puhakka, H.5
-
11
-
-
0022478675
-
Visual acuity loss in patients with Usher's syndrome
-
Piazza L, Fishman G, Farber M, Derlacki D, Anderson R (1986) Visual acuity loss in patients with Usher's syndrome. Arch Ophthalmol 104:1336-1339
-
(1986)
Arch. Ophthalmol.
, vol.104
, pp. 1336-1339
-
-
Piazza, L.1
Fishman, G.2
Farber, M.3
Derlacki, D.4
Anderson, R.5
-
12
-
-
0030922189
-
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
-
Rosenberg T, Haim M, Hauch A, Parving A (1997) The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 51:314-321
-
(1997)
Clin. Genet.
, vol.51
, pp. 314-321
-
-
Rosenberg, T.1
Haim, M.2
Hauch, A.3
Parving, A.4
-
13
-
-
0028295151
-
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
-
Smith R, Berlin C, Hejtmancik J, Keats B, Kimberling W, Lewis R, Moller C, Pelias M, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32-38
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 32-38
-
-
Smith, R.1
Berlin, C.2
Hejtmancik, J.3
Keats, B.4
Kimberling, W.5
Lewis, R.6
Moller, C.7
Pelias, M.8
Tranebjaerg, L.9
-
14
-
-
0001571918
-
On the inheritance of retinitis pigmentosa, with notes of cases
-
Usher C (1914) On the inheritance of retinitis pigmentosa, with notes of cases. R Lond Ophthalmol Hosp Rep 19:130-136
-
(1914)
R. Lond. Ophthalmol. Hosp. Rep.
, vol.19
, pp. 130-136
-
-
Usher, C.1
-
15
-
-
0033816925
-
C P A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
-
Verpy E, Leibovici M, Zwaenepoel I, Liu X, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats B, Slim R, C P (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26:51-55
-
(2000)
Nat. Genet.
, vol.26
, pp. 51-55
-
-
Verpy, E.1
Leibovici, M.2
Zwaenepoel, I.3
Liu, X.4
Gal, A.5
Salem, N.6
Mansour, A.7
Blanchard, S.8
Kobayashi, I.9
Keats, B.10
Slim, R.11
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