-
3
-
-
0033646476
-
Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1569-1574
-
-
Astuto, L.M.1
Weston, M.D.2
Carney, C.A.3
Hoover, D.M.4
Cremers, C.W.R.J.5
Wagenaar, M.6
Moller, C.7
Smith, R.J.H.8
Pieke-Dahl, S.9
Greenberg, J.10
Ramesar, R.11
Jacobson, S.G.12
Ayuso, C.13
Heckenlively, J.R.14
Tamayo, M.15
Gorin, M.B.16
Reardon, W.17
Kimberling, W.J.18
-
4
-
-
0033822063
-
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
-
(2000)
Nat Genet
, vol.26
, pp. 56-60
-
-
Bitner-Glindzicz, M.1
Lindley, K.J.2
Rutland, P.3
Blaydon, D.4
Smith, V.V.5
Milla, P.J.6
Hussain, K.7
Furth-Lavi, J.8
Cosgrove, K.E.9
Shepherd, R.M.10
Barnes, P.D.11
O'Brien, R.E.12
Farndon, P.A.13
Sowden, J.14
Liu, X.Z.15
Scanlan, M.J.16
Malcolm, S.17
Dunne, M.J.18
Aynsley-Green, A.19
Glaser, B.20
more..
-
5
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
(2001)
Nat Genet
, vol.27
, pp. 108-112
-
-
Bolz, H.1
Von Brederlow, B.2
Ramirez, A.3
Bryda, E.C.4
Kutsche, K.5
Nothwang, H.G.6
Seeliger, M.7
Del C-Salcedo Cabrera, M.8
Vila, M.C.9
Molina, O.P.10
Gal, A.11
Kubisch, C.12
-
10
-
-
0031032971
-
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
-
(1997)
Hum Mol Genet
, vol.6
, pp. 27-31
-
-
Chaib, H.1
Kaplan, J.2
Gerber, S.3
Vincent, C.4
Ayadi, H.5
Slim, R.6
Munnich, A.7
Weissenbach, J.8
Petit, C.9
-
12
-
-
0035168151
-
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
-
(2001)
Nat Genet
, vol.27
, pp. 103-107
-
-
Di Palma, F.1
Holme, R.H.2
Bryda, E.C.3
Belyantseva, I.A.4
Pellegrino, R.5
Kachar, B.6
Steel, K.P.7
Noben-Trauth, K.8
-
13
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
17
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
Antonio, M.6
Beisel, K.W.7
Steel, K.P.8
Brown, S.D.9
-
20
-
-
0023091261
-
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
-
(1987)
Clin Genet
, vol.31
, pp. 255-264
-
-
Grondahl, J.1
-
21
-
-
7944229728
-
Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and neural abnormality in a proportion of cases
-
(1959)
Acta Psychiat Scand
, vol.S138
, Issue.34
, pp. 1-101
-
-
Hallgren, B.1
-
22
-
-
0027058632
-
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
Rozet, J.M.4
Delrieu, O.5
Briard, M.L.6
Dollfus, H.7
Ghazi, I.8
Duffer, J.L.9
Frezal, J.10
Munnich, A.11
-
23
-
-
0027058412
-
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
-
(1992)
Genomics
, vol.14
, pp. 988-994
-
-
Kimberling, W.J.1
Moller, C.G.2
Davenport, S.3
Priluck, I.A.4
Beighton, P.H.5
Greenberg, J.6
Reardon, W.7
Weston, M.D.8
Kenyon, J.B.9
Grunkemeyer, J.A.10
Dahl, S.P.11
Overbeck, L.D.12
Blackwood, D.J.13
Brower, A.M.14
Hoover, D.M.15
Rowland, P.16
Smith, R.J.H.17
-
24
-
-
0026410389
-
Genetic studies of Usher syndrome
-
(1991)
Ann NY Acad Sci
, vol.630
, pp. 167-175
-
-
Kimberling, W.J.1
Weston, M.D.2
Pieke Dahl, S.3
Kenyon, J.B.4
Shugart, Y.Y.5
Moller, C.6
Davenport, S.L.7
Martini, A.8
Milani, M.9
Smith, R.J.10
-
29
-
-
0034780174
-
Coincident onset of expression of myosin VIIa and opsin in the cilium of the developing photoreceptor cell
-
(2001)
Exp Eye Res
, vol.72
, pp. 351-355
-
-
Liu, X.1
Williams, D.S.2
-
30
-
-
0032216552
-
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
-
(1998)
Am J Hum Genet
, vol.63
, pp. 909-912
-
-
Liu, X.-Z.1
Hope, C.2
Walsh, J.3
Newton, V.4
Ke, X.M.5
Liang, C.Y.6
Xu, L.R.7
Zhou, J.M.8
Trump, D.9
Steel, K.P.10
Bundey, S.11
Brown, S.D.M.12
-
34
-
-
0034625313
-
Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members
-
(2000)
J Mol Biol
, vol.299
, pp. 551-572
-
-
Nollet, F.1
Kools, P.2
Van Roy, F.3
-
35
-
-
0014780501
-
Dystrophia retinae pigmentosa - Dysacusis syndrome (DRD): A study of the Usher- or Hallgren syndrome
-
(1970)
J Genet Hum
, vol.18
, pp. 57-88
-
-
Nuutila, A.1
-
38
-
-
0029946879
-
Faster linkage analysis computations for pedigrees with loops or unused alleles
-
(1996)
Hum Hered
, vol.46
, pp. 226-235
-
-
Schaffer, A.A.1
-
41
-
-
0033166657
-
The diversity of cadherins and implications for a synaptic adhesive code in the CNS
-
(1999)
Neuron
, vol.23
, pp. 427-430
-
-
Shapiro, L.1
Colman, D.R.2
-
42
-
-
0028295151
-
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
-
(1994)
Am J Med Genet
, vol.50
, pp. 32-38
-
-
Smith, R.J.1
Berlin, C.I.2
Hejtmancik, J.F.3
Keats, B.J.4
Kimberling, W.J.5
Lewis, R.A.6
Moller, C.G.7
Pelias, M.Z.8
Tranebjaerg, L.9
-
43
-
-
0027058291
-
Localization of two genes for Usher syndrome type I to chromosome 11
-
(1992)
Genomics
, vol.14
, pp. 995-1002
-
-
Smith, R.J.1
Lee, E.C.2
Kimberling, W.J.3
Daiger, S.P.4
Pelias, M.Z.5
Keats, B.J.6
Jay, M.7
Bird, A.8
Reardon, W.9
Guest, M.10
Ayyagari, R.11
Hejtmancik, J.F.12
-
44
-
-
0030627562
-
The Gene-Finder computer tools for analysis of human and model organisms genome sequences
-
Rawling C, Clark D, Altman R, Hunter L, Lengauer T, Wodak S (eds). Halkidiki, Greece
-
(1997)
Proceedings of ISMB
, pp. 294-302
-
-
Solovyev, V.V.1
Salamov, A.A.2
-
45
-
-
0033816925
-
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
-
(2000)
Nat Genet
, vol.26
, pp. 51-55
-
-
Verpy, E.1
Leibovici, M.2
Zwaenepoel, I.3
Liu, X.Z.4
Gal, A.5
Salem, N.6
Mansour, A.7
Blanchard, S.8
Kobayashi, I.9
Keats, B.J.10
Slim, R.11
Petit, C.12
-
46
-
-
0029798669
-
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1689-1692
-
-
Wayne, S.1
Der Kaloustian, V.M.2
Schloss, M.3
Polomeno, R.4
Scott, D.A.5
Hejtmancik, J.F.6
Sheffield, V.C.7
Smith, R.J.8
-
48
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Well, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Walsh, J.6
Mburu, P.7
Varela, A.8
Levillers, J.9
Weston, M.D.10
Kelley, P.M.11
Kimberling, W.J.12
Wagenaar, M.13
Leviacobas, F.14
Largetpiet, D.15
Munnich, A.16
Steel, K.P.17
Brown, S.D.M.18
Petit, C.19
-
49
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
(1997)
Nat Genet
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
Levy, G.4
Levi-Acobas, F.5
Drira, M.6
Ayadi, H.7
Petit, C.8
-
50
-
-
0033063445
-
A striking organization of a large family of human neural cadherin-like cell adhesion genes
-
(1999)
Cell
, vol.97
, pp. 779-790
-
-
Wu, Q.1
Maniatis, T.2
-
51
-
-
0031027525
-
Identification of protein coding regions in the human genome by quadratic discriminant analysis
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 565-568
-
-
Zhang, M.Q.1
|