-
2
-
-
0001447853
-
Supravalvular aortic stenosis in association with mental retardation and certain facial appearance
-
Beuren A J, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation. 26:1962;1235-1240.
-
(1962)
Circulation
, vol.26
, pp. 1235-1240
-
-
Beuren, A.J.1
Apitz, J.2
Harmjanz, D.3
-
3
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart A K, Morris C A, Atkinson D, Jin W, Sternes K, Spallone P, Stock A D, Leppert M, Keating M T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 5:1993;11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
4
-
-
0025070995
-
Williams syndrome professional symposium
-
Greenberg F. Williams syndrome professional symposium. Am J Med Genet Suppl. 6:1990;85-88.
-
(1990)
Am J Med Genet Suppl
, vol.6
, pp. 85-88
-
-
Greenberg, F.1
-
8
-
-
0023688145
-
Natural history of Williams syndrome: Physical characteristics
-
Morris C A, Demsey S A, Leonard C O, Dilts C, Blackburn B L. Natural history of Williams syndrome: Physical characteristics. J Pediatr. 113:1988;318-326.
-
(1988)
J Pediatr
, vol.113
, pp. 318-326
-
-
Morris, C.A.1
Demsey, S.A.2
Leonard, C.O.3
Dilts, C.4
Blackburn, B.L.5
-
9
-
-
0025022133
-
Hypothesis for development of a behavioural phenotype in Williams syndrome
-
Dilts C V, Morris C A, Leonard C O. Hypothesis for development of a behavioural phenotype in Williams syndrome. Am J Med Genet Suppl. 6:1990;126-131.
-
(1990)
Am J Med Genet Suppl
, vol.6
, pp. 126-131
-
-
Dilts, C.V.1
Morris, C.A.2
Leonard, C.O.3
-
10
-
-
0025137740
-
Neuropsychological, neurological and neuroanatomical profile of Williams syndrome
-
Bellugi U, Bihrle A, Jernigan T, Trauner D, Doherty S. Neuropsychological, neurological and neuroanatomical profile of Williams syndrome. Am J Med Genet. 6:1990;115-125.
-
(1990)
Am J Med Genet
, vol.6
, pp. 115-125
-
-
Bellugi, U.1
Bihrle, A.2
Jernigan, T.3
Trauner, D.4
Doherty, S.5
-
11
-
-
0027403375
-
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
-
Curran M E, Atkinson D L, Ewart A K, Morris C A, Leppert M F, Keating M T. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 73:1993;159-168.
-
(1993)
Cell
, vol.73
, pp. 159-168
-
-
Curran, M.E.1
Atkinson, D.L.2
Ewart, A.K.3
Morris, C.A.4
Leppert, M.F.5
Keating, M.T.6
-
12
-
-
0030752982
-
Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis
-
Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read A P. Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet. 6:1997;1029-1036.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1029-1036
-
-
Tassabehji, M.1
Metcalfe, K.2
Donnai, D.3
Hurst, J.4
Reardon, W.5
Burch, M.6
Read, A.P.7
-
13
-
-
0030804005
-
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis
-
Li D Y, Toland A E, Boak B B, Atkinson D L, Ensing G J, Morris C A, Keating M T. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet. 6:1997;1021-1028.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1021-1028
-
-
Li, D.Y.1
Toland, A.E.2
Boak, B.B.3
Atkinson, D.L.4
Ensing, G.J.5
Morris, C.A.6
Keating, M.T.7
-
14
-
-
0029145430
-
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis
-
Olson T M, Michels V V, Urban Z, Csiszar K, Christiano A M, Driscoll D J, Feldt R H, Boyd C D, Thibodeau S N. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet. 4:1995;1677-1679.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1677-1679
-
-
Olson, T.M.1
Michels, V.V.2
Urban, Z.3
Csiszar, K.4
Christiano, A.M.5
Driscoll, D.J.6
Feldt, R.H.7
Boyd, C.D.8
Thibodeau, S.N.9
-
15
-
-
0031811718
-
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity and parental origin
-
Wu Y Q, Sutton V R, Nickerson E, Lupski J R, Potocki L, Korenberg J R, Greenberg F, Tassabehji M, Shaffer L G. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity and parental origin. Am J Med Genet. 78:1998;82-89.
-
(1998)
Am J Med Genet
, vol.78
, pp. 82-89
-
-
Wu, Y.Q.1
Sutton, V.R.2
Nickerson, E.3
Lupski, J.R.4
Potocki, L.5
Korenberg, J.R.6
Greenberg, F.7
Tassabehji, M.8
Shaffer, L.G.9
-
16
-
-
0002391264
-
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
-
Perez-Jurado L A, Peoples R, Kaplan P, Hamel B CJ, Francke U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet. 59:1996;781-792.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 781-792
-
-
Perez-Jurado, L.A.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.4
Francke, U.5
-
17
-
-
0030848775
-
Hemizygous deletion of syntaxin 1A gene in individuals with Williams syndrome
-
Osborne L R, Soder S, Shi X-M, Pober B, Costa T, Scherer S W, Tsui L-C. Hemizygous deletion of syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet. 61:1997;449-452.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 449-452
-
-
Osborne, L.R.1
Soder, S.2
Shi, X.-M.3
Pober, B.4
Costa, T.5
Scherer, S.W.6
Tsui, L.-C.7
-
18
-
-
0031794713
-
Complete physical map of the common deletion region in Williams syndrome and identification of three novel genes
-
Meng X, Lu X, Li Z, Green E D, Massa M, Trask B J, Morris C A, Keating M T. Complete physical map of the common deletion region in Williams syndrome and identification of three novel genes. Hum Genet. 103:1998;590-599.
-
(1998)
Hum Genet
, vol.103
, pp. 590-599
-
-
Meng, X.1
Lu, X.2
Li, Z.3
Green, E.D.4
Massa, M.5
Trask, B.J.6
Morris, C.A.7
Keating, M.T.8
-
19
-
-
0028905182
-
Deletions of the elastin gene at 7q11
-
Nickerson E, Greenberg F, Keating M T, McCaskill C, Shaffer L G. Deletions of the elastin gene at 7q11. Am J Hum Genet. 56:1995;1156-1161.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
20
-
-
0029130680
-
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
-
Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet. 96:1995;444-448.
-
(1995)
Hum Genet
, vol.96
, pp. 444-448
-
-
Mari, A.1
Amati, F.2
Mingarelli, R.3
Giannotti, A.4
Sebastio, G.5
Colloridi, V.6
Novelli, G.7
Dallapiccola, B.8
-
21
-
-
0029073758
-
Phenotype of the Williams-Beuren syndrome associated with hemi-zygosity at the elastin locus
-
Kotzot D, Bernasconi F, Brecevic L, Robinson W P, Kiss P, Kosztolanyi G, Lurie I W, Superti-Furga A, Schinzel A. Phenotype of the Williams-Beuren syndrome associated with hemi-zygosity at the elastin locus. Eur J Pediatr. 154:1995;477-482.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 477-482
-
-
Kotzot, D.1
Bernasconi, F.2
Brecevic, L.3
Robinson, W.P.4
Kiss, P.5
Kosztolanyi, G.6
Lurie, I.W.7
Superti-Furga, A.8
Schinzel, A.9
-
22
-
-
0029015848
-
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
-
Lowery M C, Morris C A, Ewart A, Brothman L J, Zhu X L, Leonard C O, Carey J C, Keating M, Brothman A R. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am J Hum Genet. 57:1995;49-53.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 49-53
-
-
Lowery, M.C.1
Morris, C.A.2
Ewart, A.3
Brothman, L.J.4
Zhu, X.L.5
Leonard, C.O.6
Carey, J.C.7
Keating, M.8
Brothman, A.R.9
-
23
-
-
4243508074
-
Familial 15q12 duplication associated with Williams phenotype
-
Miles J H, Michalski K A. Familial 15q12 duplication associated with Williams phenotype. Am J Hum Genet. 35:1983;144A.
-
(1983)
Am J Hum Genet
, vol.35
-
-
Miles, J.H.1
Michalski, K.A.2
-
24
-
-
0022901522
-
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome
-
Jefferson R D, Burn J, Gaunt K L, Hunter S, Davison E V. A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. J Med Genet. 23:1986;474-480.
-
(1986)
J Med Genet
, vol.23
, pp. 474-480
-
-
Jefferson, R.D.1
Burn, J.2
Gaunt, K.L.3
Hunter, S.4
Davison, E.V.5
-
25
-
-
0023617404
-
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
-
Kaplan L C, Wharton R, Elias E, Mandell F, Donlon T, Latt S A. Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance. Am J Med Genet. 28:1987;45-53.
-
(1987)
Am J Med Genet
, vol.28
, pp. 45-53
-
-
Kaplan, L.C.1
Wharton, R.2
Elias, E.3
Mandell, F.4
Donlon, T.5
Latt, S.A.6
-
26
-
-
0024544273
-
Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome
-
Bzduch V, Lukacova. Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome. Clin Genet. 35:1989;230-231.
-
(1989)
Clin Genet
, vol.35
, pp. 230-231
-
-
Bzduch, V.1
Lukacova2
-
27
-
-
0026569471
-
Unbalanced 13;18 translocation and Williams syndrome
-
Colley A, Thakker Y, Ward H, Donnai D. Unbalanced 13;18 translocation and Williams syndrome. J Med Genet. 29:1992;63-65.
-
(1992)
J Med Genet
, vol.29
, pp. 63-65
-
-
Colley, A.1
Thakker, Y.2
Ward, H.3
Donnai, D.4
-
28
-
-
0026582180
-
A complex chromosome rearrangement with 10 breakpoints: Tentative assignment of the locus for Williams syndrome to 4q33-q35.1
-
Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L. A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1. J Med Genet. 29:1992;253-255.
-
(1992)
J Med Genet
, vol.29
, pp. 253-255
-
-
Tupler, R.1
Maraschio, P.2
Gerardo, A.3
Mainieri, R.4
Lanzi, G.5
Tiepolo, L.6
-
29
-
-
0025932408
-
Molecular biology and pathology of human elastin
-
Uitto J, Christiano A M, Kähäri V-M, Bashir M M, Rosenbloom J. Molecular biology and pathology of human elastin. Biochem Soc Trans. 19:1991;824-829.
-
(1991)
Biochem Soc Trans
, vol.19
, pp. 824-829
-
-
Uitto, J.1
Christiano, A.M.2
Kähäri, V.-M.3
Bashir, M.M.4
Rosenbloom, J.5
-
30
-
-
0032554898
-
Elastin is an essential determinant of arterial morphogenesis
-
Li D Y, Brooke B, Davis E C, Mecham R P, Sorensen L K, Boak B B, Eichwald E, Keating M T. Elastin is an essential determinant of arterial morphogenesis. Nature. 393:1998;276-280.
-
(1998)
Nature
, vol.393
, pp. 276-280
-
-
Li, D.Y.1
Brooke, B.2
Davis, E.C.3
Mecham, R.P.4
Sorensen, L.K.5
Boak, B.B.6
Eichwald, E.7
Keating, M.T.8
-
31
-
-
0032168133
-
A novel human gene FKBP6 is deleted in Williams syndrome
-
Meng X, Lu X, Morris C A, Keating M T. A novel human gene FKBP6 is deleted in Williams syndrome. Genomics. 52:1998;130-137.
-
(1998)
Genomics
, vol.52
, pp. 130-137
-
-
Meng, X.1
Lu, X.2
Morris, C.A.3
Keating, M.T.4
-
32
-
-
0029816659
-
Cellular functions of immunophilins
-
Marks A R. Cellular functions of immunophilins. Physiol Rev. 76:1996;631-649.
-
(1996)
Physiol Rev
, vol.76
, pp. 631-649
-
-
Marks, A.R.1
-
33
-
-
0031043863
-
A novel human homologue of theDrosophila frizzled
-
Wang Y-K, Samos C H, Peoples R, Perez-Jurado L A, Nusse R, Francke U. A novel human homologue of theDrosophila frizzled. Hum Mol Genet. 6:1997;465-472.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 465-472
-
-
Wang, Y.-K.1
Samos, C.H.2
Peoples, R.3
Perez-Jurado, L.A.4
Nusse, R.5
Francke, U.6
-
35
-
-
0032400961
-
A novel human gene, WSTF, is deleted in Williams syndrome
-
Lu X, Meng X, Morris C A, Keating M T. A novel human gene, WSTF, is deleted in Williams syndrome. Genomics. 54:1998;241-249.
-
(1998)
Genomics
, vol.54
, pp. 241-249
-
-
Lu, X.1
Meng, X.2
Morris, C.A.3
Keating, M.T.4
-
36
-
-
0032408489
-
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
-
Peoples R, Cisco M J, Kaplan P, Francke U. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet. 82:1998;238-246.
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 238-246
-
-
Peoples, R.1
Cisco, M.J.2
Kaplan, P.3
Francke, U.4
-
37
-
-
0032509326
-
The BCL7 gene family: Deletion of the BCL7B gene in Williams syndrome
-
Jadayel D, Osborne L R, Zani V J, Coignet L FA, Tsui L-C, Scherer S W, Dyer M JS. The BCL7 gene family: Deletion of the BCL7B gene in Williams syndrome. Gene. 224:1998;35-44.
-
(1998)
Gene
, vol.224
, pp. 35-44
-
-
Jadayel, D.1
Osborne, L.R.2
Zani, V.J.3
Coignet, L.F.4
Tsui, L.-C.5
Scherer, S.W.6
Dyer, M.J.7
-
38
-
-
0029867126
-
Molecular cloning of a complex translocation t(8;14;12) (q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon
-
Zani V J, Asou N, Jadayel D, Heward J M, Shipley J, Nacheva E, Takatsuki K, Catovsky D, Dyer M JS. Molecular cloning of a complex translocation t(8;14;12) (q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon. Blood. 87:1996;3124-3134.
-
(1996)
Blood
, vol.87
, pp. 3124-3134
-
-
Zani, V.J.1
Asou, N.2
Jadayel, D.3
Heward, J.M.4
Shipley, J.5
Nacheva, E.6
Takatsuki, K.7
Catovsky, D.8
Dyer, M.J.9
-
40
-
-
0029021036
-
Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis
-
Zhang R, Maksymowych A B, Simpson L L. Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. Gene. 159:1995;293-294.
-
(1995)
Gene
, vol.159
, pp. 293-294
-
-
Zhang, R.1
Maksymowych, A.B.2
Simpson, L.L.3
-
41
-
-
0026778460
-
Syntaxin: A synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones
-
Bennett M K, Calakos N, Scheller R H. Syntaxin: A synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones. Science. 257:1992;255-259.
-
(1992)
Science
, vol.257
, pp. 255-259
-
-
Bennett, M.K.1
Calakos, N.2
Scheller, R.H.3
-
43
-
-
0028817584
-
Genetic and electrophysiological studies ofDrosophila
-
Schulze K L, Broadie K, Perin M S, Bellen H J. Genetic and electrophysiological studies ofDrosophila. Cell. 80:1995;311-320.
-
(1995)
Cell
, vol.80
, pp. 311-320
-
-
Schulze, K.L.1
Broadie, K.2
Perin, M.S.3
Bellen, H.J.4
-
44
-
-
0029947330
-
Mouse model of hyperkinesis implicates SNAP-25 in behavioural regulation
-
Hess E J, Collins K A, Wilson M C. Mouse model of hyperkinesis implicates SNAP-25 in behavioural regulation. J Neurosci. 16:1996;3104-3111.
-
(1996)
J Neurosci
, vol.16
, pp. 3104-3111
-
-
Hess, E.J.1
Collins, K.A.2
Wilson, M.C.3
-
45
-
-
0031573779
-
Analysis of a human gene homologous to rat ventral prostate.1 protein
-
Peacock R E, Keen T J, Inglehearn C F. Analysis of a human gene homologous to rat ventral prostate.1 protein. Genomics. 46:1997;443-449.
-
(1997)
Genomics
, vol.46
, pp. 443-449
-
-
Peacock, R.E.1
Keen, T.J.2
Inglehearn, C.F.3
-
46
-
-
0030846016
-
Molecular cloning and functional characterization of the receptor forClostridium perfringens
-
Katahira J, Inoue N, Horiguchi Y, Matsuda M, Sugimoto N. Molecular cloning and functional characterization of the receptor forClostridium perfringens. J Cell Biol. 136:1997;1239-1247.
-
(1997)
J Cell Biol
, vol.136
, pp. 1239-1247
-
-
Katahira, J.1
Inoue, N.2
Horiguchi, Y.3
Matsuda, M.4
Sugimoto, N.5
-
47
-
-
0032535154
-
Genes for the CPE receptor (CPETR1CPETR2
-
Paperna T, Peoples R, Wang Y-K, Kaplan P, Francke U. Genes for the CPE receptor (CPETR1CPETR2. Genomics. 54:1998;453-459.
-
(1998)
Genomics
, vol.54
, pp. 453-459
-
-
Paperna, T.1
Peoples, R.2
Wang, Y.-K.3
Kaplan, P.4
Francke, U.5
-
48
-
-
0028335706
-
Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif
-
Mizuno K, Okano I, Ohashi K, Nunoue K, Kuma K, Miyata T, Nakamura T. Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif. Oncogene. 9:1994;1605-1612.
-
(1994)
Oncogene
, vol.9
, pp. 1605-1612
-
-
Mizuno, K.1
Okano, I.2
Ohashi, K.3
Nunoue, K.4
Kuma, K.5
Miyata, T.6
Nakamura, T.7
-
49
-
-
0029129581
-
The murine LIM-kinase gene (limk) encodes a novel serine threonine kinase expressed predominantly in trophoblast giant cells and the developing nervous system
-
Cheng A K, Robertson E J. The murine LIM-kinase gene (limk) encodes a novel serine threonine kinase expressed predominantly in trophoblast giant cells and the developing nervous system. Mech Dev. 52:1995;187-197.
-
(1995)
Mech Dev
, vol.52
, pp. 187-197
-
-
Cheng, A.K.1
Robertson, E.J.2
-
50
-
-
0028841575
-
Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residuesin vitro
-
Pröschel C, Blouin M-J, Gutowski N J, Ludwig R, Noble M. Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residuesin vitro. Oncogene. 11:1995;1271-1281.
-
(1995)
Oncogene
, vol.11
, pp. 1271-1281
-
-
Pröschel, C.1
Blouin, M.-J.2
Gutowski, N.J.3
Ludwig, R.4
Noble, M.5
-
51
-
-
0032565962
-
Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase
-
Arber S, Barbayannis F A, Hanser H, Schneider C, Stanyon C A, Bernard O, Caroni P. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature. 393:1998;805-809.
-
(1998)
Nature
, vol.393
, pp. 805-809
-
-
Arber, S.1
Barbayannis, F.A.2
Hanser, H.3
Schneider, C.4
Stanyon, C.A.5
Bernard, O.6
Caroni, P.7
-
52
-
-
0032565769
-
Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization
-
Yang N, Higuchi O, Ohashi K, Nagata K, Wada A, Kangawa K, Nishida E, Mizuno K. Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization. Nature. 393:1998;809-812.
-
(1998)
Nature
, vol.393
, pp. 809-812
-
-
Yang, N.1
Higuchi, O.2
Ohashi, K.3
Nagata, K.4
Wada, A.5
Kangawa, K.6
Nishida, E.7
Mizuno, K.8
-
53
-
-
15844375659
-
LIM-kinase 1
-
Frangiskakis J M, Ewart A K, Morris C A, Mervis C B, Bertrand J, Robinson B F, Klein B P, Ensing G J, Everett L A, Green E D, Pröschel C, Gutowski N J, Noble M, Atkinson D L, Odelberg S J, Keating M T. LIM-kinase 1. Cell. 86:1996;59-69.
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.M.1
Ewart, A.K.2
Morris, C.A.3
Mervis, C.B.4
Bertrand, J.5
Robinson, B.F.6
Klein, B.P.7
Ensing, G.J.8
Everett, L.A.9
Green, E.D.10
Pröschel, C.11
Gutowski, N.J.12
Noble, M.13
Atkinson, D.L.14
Odelberg, S.J.15
Keating, M.T.16
-
54
-
-
0028685657
-
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from immature myeloid cell line KG-1
-
Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from immature myeloid cell line KG-1. DNA Res. 1:1994;27-35.
-
(1994)
DNA Res
, vol.1
, pp. 27-35
-
-
Nomura, N.1
Miyajima, N.2
Sazuka, T.3
Tanaka, A.4
Kawarabayasi, Y.5
Sato, S.6
Nagase, T.7
Seki, N.8
Ishikawa, K.9
Tabata, S.10
-
55
-
-
0028129989
-
Conserved structures and diversity of functions of RNA-binding proteins
-
Burd C G, Dreyfuss G. Conserved structures and diversity of functions of RNA-binding proteins. Science. 265:1994;615-621.
-
(1994)
Science
, vol.265
, pp. 615-621
-
-
Burd, C.G.1
Dreyfuss, G.2
-
56
-
-
0026598237
-
Sequence and expression inEscherichia coli
-
Chen M, Pan Z-Q, Hurwitz J. Sequence and expression inEscherichia coli. Proc Natl Acad Sci. 89:1992;2516-2520.
-
(1992)
Proc Natl Acad Sci
, vol.89
, pp. 2516-2520
-
-
Chen, M.1
Pan, Z.-Q.2
Hurwitz, J.3
-
57
-
-
0024412161
-
Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replicationin vitro
-
Lee S-H, Kwong A D, Ishimi Y, Hurwitz J. Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replicationin vitro. Proc Natl Acad Sci USA. 86:1989;4877-4881.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 4877-4881
-
-
Lee, S.-H.1
Kwong, A.D.2
Ishimi, Y.3
Hurwitz, J.4
-
58
-
-
0024509284
-
Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DBNA replicationin vitro
-
Tsurimoto T, Stillman B. Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DBNA replicationin vitro. Mol Cell Biol. 9:1989;609-619.
-
(1989)
Mol Cell Biol
, vol.9
, pp. 609-619
-
-
Tsurimoto, T.1
Stillman, B.2
-
59
-
-
0030249984
-
Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome
-
Osborne L R, Martindale D, Scherer S W, Shi X-M, Huizenga J, Heng H Q, Costa T, Pober B R, Tsui L-C. Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome. Genomics. 36:1996;328-336.
-
(1996)
Genomics
, vol.36
, pp. 328-336
-
-
Osborne, L.R.1
Martindale, D.2
Scherer, S.W.3
Shi, X.-M.4
Huizenga, J.5
Heng, H.Q.6
Costa, T.7
Pober, B.R.8
Tsui, L.-C.9
-
60
-
-
0345649307
-
CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies
-
De Zeeuw C I, Hoogenraad C C, Goedknegt E, Hertzberg E, Neubauer A, Grosveld F, Galjart N. CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies. Cell. 19:1998;1-20.
-
(1998)
Cell
, vol.19
, pp. 1-20
-
-
De Zeeuw, C.I.1
Hoogenraad, C.C.2
Goedknegt, E.3
Hertzberg, E.4
Neubauer, A.5
Grosveld, F.6
Galjart, N.7
-
61
-
-
85030360163
-
Identification of a putative transcription factor gene (WBSCR11
-
Osborne, L, R, Campbell, T, L, Daradich, A, Scherer, S, W, Tsui, L-C, Identification of a putative transcription factor gene (WBSCR11, Genomics.
-
Genomics
-
-
Osborne, L.R.1
Campbell, T.L.2
Daradich, A.3
Scherer, S.W.4
Tsui, L.-C.5
-
62
-
-
0031886974
-
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
-
Perez-Jurado L A, Wang Y-K, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet. 7:1998;325-334.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 325-334
-
-
Perez-Jurado, L.A.1
Wang, Y.-K.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
63
-
-
0031038046
-
BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement
-
Yang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci USA. 94:1997;604-609.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 604-609
-
-
Yang, W.1
Desiderio, S.2
-
64
-
-
0030695247
-
Cloning of an Inr- And E-box-binding protein, TFII-I, that interacts physically and functionally with USF1
-
Roy A L, Du H, Gregor P D, Novina C D, Martinez E, Roeder R G. Cloning of an Inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. EMBO J. 16:1997;7091-7104.
-
(1997)
EMBO J
, vol.16
, pp. 7091-7104
-
-
Roy, A.L.1
Du, H.2
Gregor, P.D.3
Novina, C.D.4
Martinez, E.5
Roeder, R.G.6
-
65
-
-
0028896268
-
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome
-
Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Ayme S, Weissenbach J, Mattei M-G, Lyonnet S, Munnich A. A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet. 56:1995;542-544.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 542-544
-
-
Gilbert-Dussardier, B.1
Bonneau, D.2
Gigarel, N.3
Le Merrer, M.4
Bonnet, D.5
Philip, N.6
Serville, F.7
Verloes, A.8
Rossi, A.9
Ayme, S.10
Weissenbach, J.11
Mattei, M.-G.12
Lyonnet, S.13
Munnich, A.14
-
66
-
-
0033366703
-
Williams syndrome: Using chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
-
Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette M JA, Grant J, Dennis N, Reardon W, Splitt M, Read A P, Donnai D. Williams syndrome: Using chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet. 64:1999;118-125.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 118-125
-
-
Tassabehji, M.1
Metcalfe, K.2
Karmiloff-Smith, A.3
Carette, M.J.4
Grant, J.5
Dennis, N.6
Reardon, W.7
Splitt, M.8
Read, A.P.9
Donnai, D.10
-
67
-
-
85030366314
-
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
-
Botta, A, Novelli, G, Mari, A, Novelli, A, Sabani, M, Korenberg, J, Osborne, L, R, Digilio, M, C, Dallapiccola, B, Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes, Am J Med Genet.
-
Am J Med Genet
-
-
Botta, A.1
Novelli, G.2
Mari, A.3
Novelli, A.4
Sabani, M.5
Korenberg, J.6
Osborne, L.R.7
Digilio, M.C.8
Dallapiccola, B.9
-
68
-
-
0029891886
-
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion
-
Robinson W P, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics. 34:1996;17-23.
-
(1996)
Genomics
, vol.34
, pp. 17-23
-
-
Robinson, W.P.1
Waslynka, J.2
Bernasconi, F.3
Wang, M.4
Clark, S.5
Kotzot, D.6
Schinzel, A.7
-
69
-
-
0029798778
-
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
-
Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd C. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 59:1996;958-962.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 958-962
-
-
Urban, Z.1
Helms, C.2
Fekete, G.3
Csiszar, K.4
Bonnet, D.5
Munnich, A.6
Donis-Keller, H.7
Boyd, C.8
-
70
-
-
0029831686
-
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
-
Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet. 5:1996;1893-1898.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1893-1898
-
-
Dutly, F.1
Schinzel, A.2
-
71
-
-
0030667669
-
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other disease on human chromosome 7
-
Osborne L R, Herbrick J-A, Greavette T, Heng H HQ, Tsui L-C, Scherer S W. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other disease on human chromosome 7. Genomics. 45:1997;402-406.
-
(1997)
Genomics
, vol.45
, pp. 402-406
-
-
Osborne, L.R.1
Herbrick, J.-A.2
Greavette, T.3
Heng, H.H.4
Tsui, L.-C.5
Scherer, S.W.6
-
72
-
-
0040945789
-
A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chromic granulomatous disease
-
Görlach A, Lee P L, Roesler J, Hopkins P J, Christensen B, Green E D, Chanock S J, Curnette J T. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chromic granulomatous disease. J Clin Invest. 100:1997;1907-1918.
-
(1997)
J Clin Invest
, vol.100
, pp. 1907-1918
-
-
Görlach, A.1
Lee, P.L.2
Roesler, J.3
Hopkins, P.J.4
Christensen, B.5
Green, E.D.6
Chanock, S.J.7
Curnette, J.T.8
-
73
-
-
0030748778
-
SA-1, a nuclear protein encoded by one member of a novel gene family: Molecular cloning and detection in hemopoietic organs
-
Carramolino L, Lee B C, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, Priteo I, Carmi P, Gothelf Y, González de Buitrago G, Aracil M, Márquez G, Barbero J L, Zipori D. SA-1, a nuclear protein encoded by one member of a novel gene family: Molecular cloning and detection in hemopoietic organs. Gene. 195:1997;151-159.
-
(1997)
Gene
, vol.195
, pp. 151-159
-
-
Carramolino, L.1
Lee, B.C.2
Zaballos, A.3
Peled, A.4
Barthelemy, I.5
Shav-Tal, Y.6
Priteo, I.7
Carmi, P.8
Gothelf, Y.9
González De Buitrago, G.10
Aracil, M.11
Márquez, G.12
Barbero, J.L.13
Zipori, D.14
-
74
-
-
0028849441
-
Genomic organization of the humanPMS2
-
Nicolaides N C, Carter K C, Shell B K, Papadopoulos N, Vogelstein B, Kinzler K. Genomic organization of the humanPMS2. Genomics. 30:1995;195-206.
-
(1995)
Genomics
, vol.30
, pp. 195-206
-
-
Nicolaides, N.C.1
Carter, K.C.2
Shell, B.K.3
Papadopoulos, N.4
Vogelstein, B.5
Kinzler, K.6
-
75
-
-
0032033164
-
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region
-
Wang Y-K, Perez-Jurado L A, Francke U. A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Genomics. 48:1998;163-170.
-
(1998)
Genomics
, vol.48
, pp. 163-170
-
-
Wang, Y.-K.1
Perez-Jurado, L.A.2
Francke, U.3
-
76
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski J R. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14:1998;417-422.
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
77
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance P F, Abbas N, Lensch M W, Pentao L, Roa B B, Patel P I, Lupski J R. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 3:1994;223-228.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
78
-
-
0030881588
-
Homologous recombination of a flanking repeat cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen K S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault A C, Lee C C, Lupski J R. Homologous recombination of a flanking repeat cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 17:1997;154-163.
-
(1997)
Nat Genet
, vol.17
, pp. 154-163
-
-
Chen, K.S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
80
-
-
0029949025
-
LIM-kinase deleted in Williams syndrome
-
Tassabehji M, Metcalfe K, Fergusson W D, Carette M JA, Dore J K, Donnai D, Read A P, Proschel C, Gutowski N J, Mao X, Sheer D. LIM-kinase deleted in Williams syndrome. Nat Genet. 13:1996;272-273.
-
(1996)
Nat Genet
, vol.13
, pp. 272-273
-
-
Tassabehji, M.1
Metcalfe, K.2
Fergusson, W.D.3
Carette, M.J.4
Dore, J.K.5
Donnai, D.6
Read, A.P.7
Proschel, C.8
Gutowski, N.J.9
Mao, X.10
Sheer, D.11
-
81
-
-
0029948577
-
The gene for replication factor C subunit 2 (RFC2
-
Peoples R, Perez-Jurado L A, Wang Y-K, Kaplan P, Francke U. The gene for replication factor C subunit 2 (RFC2. Am J Hum Genet. 58:1996;1370-1373.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1370-1373
-
-
Peoples, R.1
Perez-Jurado, L.A.2
Wang, Y.-K.3
Kaplan, P.4
Francke, U.5
-
82
-
-
0031741337
-
Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1
-
O'Mahoney J V, Guven K L, Lin J, Joya J E, Robinson C S, Wade R P, Hardeman E C. Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Mol Cell Biol. 18:1998;6641-6652.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 6641-6652
-
-
O'Mahoney, J.V.1
Guven, K.L.2
Lin, J.3
Joya, J.E.4
Robinson, C.S.5
Wade, R.P.6
Hardeman, E.C.7
|