-
2
-
-
0029088343
-
Molecular genetics of retinitis pigmeniosa
-
Dryja TP, Li T. Molecular genetics of retinitis pigmeniosa. Hum Mol Genet 1995;4:1739-43. -
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1739-1743
-
-
Dryja, T.P.1
Li, T.2
-
3
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992;1:209-13.
-
(1992)
Nat Genet
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.J.1
Cowley, G.S.2
McGee, T.L.3
Sandberg, M.A.4
Berson, E.L.5
Dryja, T.P.6
-
4
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the a-subunit of rod cGMPphosphodiesterase
-
Huang SH, Pittler SJ, Huang XH, Oliveira L, Berson EL, Dryja TP. Autosomal recessive retinitis pigmentosa caused by mutations in the a-subunit of rod cGMPphosphodiesterase. Nat Genet 1995;11:468-71.
-
(1995)
Nat Genet
, vol.11
, pp. 468-471
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.H.3
Oliveira, L.4
Berson, E.L.5
Dryja, T.P.6
-
5
-
-
0028939390
-
Recessive mutations in the gene encoding the -subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP. Recessive mutations in the gene encoding the -subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Proc NatlAcad Sei USA 1995;92:3249-53.
-
(1995)
Proc NatlAcad Sei USA
, vol.92
, pp. 3249-3253
-
-
McLaughlin, M.E.1
Ehrhart, T.L.2
Berson, E.L.3
Dryja, T.P.4
-
6
-
-
0028921035
-
Homozygous tandem duplication within the gene encoding the betasubunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
-
Bayes M, Giordano M, Balcells S, et al. Homozygous tandem duplication within the gene encoding the betasubunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutât 1995;5:228-34.
-
(1995)
Hum Mutât
, vol.5
, pp. 228-234
-
-
Bayes, M.1
Giordano, M.2
Balcells, S.3
-
7
-
-
0028867410
-
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
-
Danciger M, Blaney J, Gao YQ, et al. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Gettomics 1995;30:l-7.
-
(1995)
Gettomics
, vol.30
, pp. 7
-
-
Danciger, M.1
Blaney, J.2
Gao, Y.Q.3
-
8
-
-
0028820045
-
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
-
Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau K\V. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc NatlAcad Sei USA 1995;92:1177-81.
-
(1995)
Proc NatlAcad Sei USA
, vol.92
, pp. 1177-1181
-
-
Dryja, T.P.1
Finn, J.T.2
Peng, Y.W.3
McGee, T.L.4
Berson, E.L.5
Kv, Y.6
-
9
-
-
0027933727
-
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome Iq31-q32.1 in an inbred and genetically heterogeneous disease population
-
van Soest S, Vandenborn LI, Gal A, et al. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome Iq31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 1994;22:499504.
-
(1994)
Genomics
, vol.22
, pp. 499504
-
-
Soest, S.1
Vandenborn, L.I.2
Gal, A.3
-
10
-
-
0028917492
-
Autosomal recessive retinitis pigmentosa locus maps on chromosome Iq in a large consanguineous family from Pakistan
-
Leutelt J, Oehlmann R, Younus F, et al. Autosomal recessive retinitis pigmentosa locus maps on chromosome Iq in a large consanguineous family from Pakistan. Clin Genet 1995;47:122-4.
-
(1995)
Clin Genet
, vol.47
, pp. 122-124
-
-
Leutelt, J.1
Oehlmann, R.2
Younus, F.3
-
11
-
-
0028017387
-
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
-
Knowles JA, Shugart Y, Banerjee P, et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Geriet 1994;3:1401-3.
-
(1994)
Hum Mol Geriet
, vol.3
, pp. 1401-1403
-
-
Knowles, J.A.1
Shugart, Y.2
Banerjee, P.3
-
12
-
-
0031568891
-
A new locus for autosomal recessive retinitis pigmentosa maps to Ipl3p21
-
Martinez-Mir A, Bayes M, Vilageliu D, et al. A new locus for autosomal recessive retinitis pigmentosa maps to Ipl3p21. Genomics 1997;40:142-6.
-
(1997)
Genomics
, vol.40
, pp. 142-146
-
-
Martinez-Mir, A.1
Bayes, M.2
Vilageliu, D.3
-
13
-
-
12644290290
-
Autosomal recessive retinitis pigmentosa in Spain: Evaluation of 4 genes and 2 loci involved in the disease
-
Bayes M, Marrinez-lir A, Valverde D, et al. Autosomal recessive retinitis pigmentosa in Spain: evaluation of 4 genes and 2 loci involved in the disease. Clin Genet 1996;SO:380-7.
-
(1996)
Clin Genet
, pp. 380-387
-
-
Bayes, M.1
Marrinez-lir, A.2
Valverde, D.3
-
14
-
-
0029005186
-
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
-
Bayes M, Valverde D, Balcells S, et al. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet 1995;96:8994.
-
(1995)
Hum Genet
, vol.96
, pp. 8994
-
-
Bayes, M.1
Valverde, D.2
Balcells, S.3
-
15
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dyke DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dyke, D.D.2
Polesky, H.F.3
-
16
-
-
85085276538
-
-
Weber B, Riess O, Daneshvar H, Graham R, Hayden R. (CA)n-dinucleotide repeat at the PDEB locus in 4pl6.3. Hum AM Genet 1993;2:82T.
-
(1993)
CAn-dinucleotide Repeat at the PDEB Locus in 4pl6.3. Hum AM Genet
, vol.2
-
-
Weber, B.1
Riess, O.2
Daneshvar, H.3
Graham, R.4
Hayden, R.5
-
17
-
-
0024582686
-
Abundant class of human DNA polymorphisms wh ich can be typed using the polymerase chain reaction
-
Weber JL, May PE. Abundant class of human DNA polymorphisms wh ich can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
19
-
-
0027424711
-
Polymorphisms and rare sequence variants at the ROM! locus
-
Bascom RA, Liu L, Humphries P, Fishman GA, Murray JC, Mclnnes RR. Polymorphisms and rare sequence variants at the ROM! locus. Hum Mol Genet 1993;2:1975-7.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1975-1977
-
-
Bascom, R.A.1
Liu, L.2
Humphries, P.3
Fishman, G.A.4
Murray, J.C.5
Mclnnes, R.R.6
-
20
-
-
0028274964
-
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa
-
Hahn LB, Berson EL, Dryja TP. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sei 1994;35: 1077-82.
-
(1994)
Invest Ophthalmol Vis Sei
, vol.35
, pp. 1077-1082
-
-
Hahn, L.B.1
Berson, E.L.2
Dryja, T.P.3
-
21
-
-
0026525316
-
Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis
-
Sheffield VC, Beck JS, Nichols B, Cousineau A, Lidral AC, Stone EM. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 1992;50:567-75.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 567-575
-
-
Sheffield, V.C.1
Beck, J.S.2
Nichols, B.3
Cousineau, A.4
Lidral, A.C.5
Stone, E.M.6
-
23
-
-
0028231090
-
The 1993-94 Gênéthon human genetic linkage map
-
Gyapay G, Morissatte J, Vignal A, et al. The 1993-94 Gênéthon human genetic linkage map. Nat Genet 1994;7:246338.
-
(1994)
Nat Genet
, vol.7
, pp. 246338
-
-
Gyapay, G.1
Morissatte, J.2
Vignal, A.3
-
25
-
-
0028601349
-
Cloning and characterization of the gene encoding the cGMPphosphodiesterase gamma-subunit of human rod photoreceptor cells
-
Piriev NI, Khramtsov NV, Upkin VM. Cloning and characterization of the gene encoding the cGMPphosphodiesterase gamma-subunit of human rod photoreceptor cells. Gene 1994;151:297-301.
-
(1994)
Gene
, vol.151
, pp. 297-301
-
-
Piriev, N.I.1
Khramtsov, N.V.2
Upkin, V.M.3
-
28
-
-
0028607407
-
Recent advances in the gene map of inherited eye disorders. Primary hereditary diseases of the retina, choroid, and vitreous
-
Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP. Recent advances in the gene map of inherited eye disorders. Primary hereditary diseases of the retina, choroid, and vitreous. JMed Genet 1994;31:903-15.
-
(1994)
JMed Genet
, vol.31
, pp. 903-915
-
-
Rosenfeld, P.J.1
McKusick, V.A.2
Amberger, J.S.3
Dryja, T.P.4
-
29
-
-
0025003896
-
Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37
-
Ngo JT, Klisak I, Sparkes RS, al. Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37. Genomks 1990;7:84-7.
-
(1990)
Genomks
, vol.7
, pp. 84-87
-
-
Ngo, J.T.1
Klisak, I.2
Sparkes, R.S.3
-
30
-
-
0028023502
-
Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes
-
Calabrese G, Sallese M, Stornaiuolo A, Stuppia L, Palka G, Deblasi A. Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics 1994;23: 286-8.
-
(1994)
Genomics
, vol.23
, pp. 286-288
-
-
Calabrese, G.1
Sallese, M.2
Stornaiuolo, A.3
Stuppia, L.4
Palka, G.5
Deblasi, A.6
-
31
-
-
0027282112
-
a2-chimerin, an SH2containing GTPase-activating protein for the ras-related protein p21"c derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes
-
Hall C, Sin WC, Teo M, et al. a2-chimerin, an SH2containing GTPase-activating protein for the ras-related protein p21"c derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. Mo! Cell Bio! 1993;13:4986-98.
-
(1993)
Mo! Cell Bio!
, vol.13
, pp. 4986-4998
-
-
Hall, C.1
Sin, W.C.2
Teo, M.3
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