-
1
-
-
0025183708
-
Basic local alignment search tool
-
Altschul S. F., Gish W., Miller W., Myers E. W., Lipman D. J. Basic local alignment search tool. J. Mol. Biol. 215:1990;403-410.
-
(1990)
J. Mol. Biol.
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
2
-
-
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
-
3
-
-
0028358901
-
Stabilization of calcium release channel (ryanodine receptor) function by FK-506 binding protein
-
Brillantes A. M. B., Ondrias K., Scott A., Kobrinsky E., Ondriasova E., Moschella M. C., Jayaraman T., Landers M., Ehrlich B. E., Marks A. R. Stabilization of calcium release channel (ryanodine receptor) function by FK-506 binding protein. Cell. 77:1993;513-523.
-
(1993)
Cell
, vol.77
, pp. 513-523
-
-
Brillantes, A.M.B.1
Ondrias, K.2
Scott, A.3
Kobrinsky, E.4
Ondriasova, E.5
Moschella, M.C.6
Jayaraman, T.7
Landers, M.8
Ehrlich, B.E.9
Marks, A.R.10
-
4
-
-
0028843879
-
Calcineurin associated with the inositol 1,4,5-trisphosphate receptor-FKBP12 complex modulates calcium influx
-
Cameron A. M., Steiner J. P., Roskams A. J., Ali S. M., Snyder S. H. Calcineurin associated with the inositol 1,4,5-trisphosphate receptor-FKBP12 complex modulates calcium influx. Cell. 83:1995;463-472.
-
(1995)
Cell
, vol.83
, pp. 463-472
-
-
Cameron, A.M.1
Steiner, J.P.2
Roskams, A.J.3
Ali, S.M.4
Snyder, S.H.5
-
5
-
-
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
-
6
-
-
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
-
7
-
-
0028294413
-
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
-
Ewart A. K., Jin W., Atkinson D. L., Morris C. A., Keating M. T. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93:1994;1071-1077.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1071-1077
-
-
Ewart, A.K.1
Jin, W.2
Atkinson, D.L.3
Morris, C.A.4
Keating, M.T.5
-
8
-
-
15844375659
-
LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition
-
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., Proschel C., Gutowski N. J., Noble M., Atkinson D. L., Odelberg S. J., Keating M. T. LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. 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
Proschel, C.11
Gutowski, N.J.12
Noble, M.13
Atkinson, D.L.14
Odelberg, S.J.15
Keating, M.T.16
-
10
-
-
0027140309
-
Structural organization of the genes encoding human and murine FK506-binding protein (FKBP) 13 and comparison toFKBP1
-
Hendrickson B. A., Zhang W., Craig R. J., Jin Y-J., Bierer B. E., Burakoff S., DiLella A. G. Structural organization of the genes encoding human and murine FK506-binding protein (FKBP) 13 and comparison toFKBP1. Gene. 134:1993;271-275.
-
(1993)
Gene
, vol.134
, pp. 271-275
-
-
Hendrickson, B.A.1
Zhang, W.2
Craig, R.J.3
Jin, Y.-J.4
Bierer, B.E.5
Burakoff, S.6
Dilella, A.G.7
-
11
-
-
0002391264
-
Molecular definition of the chromosome 7 deletions in Williams syndrome and parent-of-origin effects on growth
-
Jurado L. A. P., Peoples R., Kaplan P., Hamel B. C. J., Francke U. Molecular definition of the chromosome 7 deletions 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
-
-
Jurado, L.A.P.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.J.4
Francke, U.5
-
12
-
-
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
-
Jurado L. A. P., 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
-
-
Jurado, L.A.P.1
Wang, Y.K.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
13
-
-
0029867394
-
Structure-function relationships in the FK506-binding protein (FKBP) family of peptidylprolylcis-trans
-
Kay J. E. Structure-function relationships in the FK506-binding protein (FKBP) family of peptidylprolylcis-trans. Biochem. J. 314:1996;361-385.
-
(1996)
Biochem. J.
, vol.314
, pp. 361-385
-
-
Kay, J.E.1
-
14
-
-
0028998441
-
Tetratrico peptide repeat interactions: To TPR or not to TPR?
-
Lamb J. R., Tugenreich S., Hieter P. Tetratrico peptide repeat interactions: To TPR or not to TPR? Trends. Biochem. Sci. 20:1995;257-259.
-
(1995)
Trends. Biochem. Sci.
, vol.20
, pp. 257-259
-
-
Lamb, J.R.1
Tugenreich, S.2
Hieter, P.3
-
15
-
-
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. 7:1997;1021-1028.
-
(1997)
Hum. Mol. Genet.
, vol.7
, 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
-
16
-
-
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
-
17
-
-
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
-
18
-
-
0031053574
-
Molecular cloning of human FKBP51 and comparisons of immunophilin interactions with Hsp90 and progesterone receptor
-
Nair S. C., Rimerman R. A., Toran E. J., Chen S., Prapapanich V., Butts R. N., Smith D. F. Molecular cloning of human FKBP51 and comparisons of immunophilin interactions with Hsp90 and progesterone receptor. Mol. Cell. Biol. 17:1997;594-603.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 594-603
-
-
Nair, S.C.1
Rimerman, R.A.2
Toran, E.J.3
Chen, S.4
Prapapanich, V.5
Butts, R.N.6
Smith, D.F.7
-
19
-
-
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. 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
-
20
-
-
0030249984
-
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
-
Osborne L. R., Martindale D., Scherer S. W., Shi X. M., Huizenga J., Heng H. H. Q., Costa T., Pober B., Lew L., Brinkman J., Rommens J., Koop B., Tsui L. C. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. 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.H.Q.6
Costa, T.7
Pober, B.8
Lew, L.9
Brinkman, J.10
Rommens, J.11
Koop, B.12
Tsui, L.C.13
-
21
-
-
0030848775
-
Hemizygous deletion of the 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 the 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
-
22
-
-
0026495863
-
Expression and characterization of human FKBP52, an immunophilin that associates with the 90-kDa heat shock protein and is a component of steroid receptor complex
-
Peattie D. A., Harding M. W., Fleming M. A., Decenzo M. T., Lippke J. A., Livingston D. J., Benasutti M. Expression and characterization of human FKBP52, an immunophilin that associates with the 90-kDa heat shock protein and is a component of steroid receptor complex. Proc. Natl. Acad. Sci. USA. 89:1992;10974-10978.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 10974-10978
-
-
Peattie, D.A.1
Harding, M.W.2
Fleming, M.A.3
Decenzo, M.T.4
Lippke, J.A.5
Livingston, D.J.6
Benasutti, M.7
-
23
-
-
0029948577
-
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
-
Peoples R., Perez-Jurado L., Wang Y. K., Kaplan P., Francke U. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am. J. Hum. Genet. 58:1996;1370-1373.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1370-1373
-
-
Peoples, R.1
Perez-Jurado, L.2
Wang, Y.K.3
Kaplan, P.4
Francke, U.5
-
24
-
-
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
-
25
-
-
0027361272
-
FKBP54, a novel FK506-binding protein in avian progesterone receptor complexes and HeLa extracts
-
Smith D. F., Albers M. W., Schreiber S. L., Leach K. L., Deibel M. R. Jr. FKBP54, a novel FK506-binding protein in avian progesterone receptor complexes and HeLa extracts. J. Biol. Chem. 268:1993;24270-24273.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 24270-24273
-
-
Smith, D.F.1
Albers, M.W.2
Schreiber, S.L.3
Leach, K.L.4
Deibel M.R., Jr.5
-
26
-
-
0028843868
-
The tetratricopeptide repeats of Ssn6 interact with the homeo domain of alpha 2
-
Smith R. L., Redd M. J., Johnson A. D. The tetratricopeptide repeats of Ssn6 interact with the homeo domain of alpha 2. Genes Dev. 9:1995;2903-2910.
-
(1995)
Genes Dev.
, vol.9
, pp. 2903-2910
-
-
Smith, R.L.1
Redd, M.J.2
Johnson, A.D.3
-
27
-
-
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. 7:1997;1029-1036.
-
(1997)
Hum. Mol. Genet.
, vol.7
, 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
-
28
-
-
0030895722
-
2,006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries
-
Touchman J. W., Bouffard G. G., Wang L., Weintraub L. A., Idol J. R., Robbins C. M., Nussbaum J. C., Lovett M., Green E. D. 2,006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries. Genome Res. 7:1997;281-293.
-
(1997)
Genome Res.
, vol.7
, pp. 281-293
-
-
Touchman, J.W.1
Bouffard, G.G.2
Wang, L.3
Weintraub, L.A.4
Idol, J.R.5
Robbins, C.M.6
Nussbaum, J.C.7
Lovett, M.8
Green, E.D.9
-
29
-
-
0028969881
-
Distinct TPR motifs of Cyc8 are involved in recruiting the Cyc8-Tup1 corepressor complex to differentially regulated promoters
-
Tzamarias D., Struhl K. Distinct TPR motifs of Cyc8 are involved in recruiting the Cyc8-Tup1 corepressor complex to differentially regulated promoters. Genes Dev. 9:1995;821-831.
-
(1995)
Genes Dev.
, vol.9
, pp. 821-831
-
-
Tzamarias, D.1
Struhl, K.2
-
30
-
-
0031043863
-
A novel human homologue of theDrosophila
-
Wang Y. K., Samos C. H., Peoples R., Perez-Jurado L. A., Nusse R., Francke U. A novel human homologue of theDrosophila. 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
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