-
1
-
-
0025137740
-
Neuropsychological, neurological and neuroanatomical profile of Williams syndrome
-
Bellugi, U., Bihrle, A., Jernigan, T., Trauner, D., and Doherty, S. (1990). Neuropsychological, neurological and neuroanatomical profile of Williams syndrome. Am. J. Med. Genet. 6: 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
-
2
-
-
0026523613
-
Restin: A novel intermediate filament-associated protein highly expressed in the Reed-Sternberg cells of Hodgkin's disease
-
Bilbe, G., Delabie, J., Bruggen, J., Richener, H., Asselbergs, F. A., Cerletti, N., Sorg, C., Odink, K., Tarcsay, L., Wiesendanger, W., DeWolf-Peters, C., and Shipman, P. (1992). Restin: A novel intermediate filament-associated protein highly expressed in the Reed-Sternberg cells of Hodgkin's disease. EMBO J. 11: 2103-2113.
-
(1992)
EMBO J.
, vol.11
, pp. 2103-2113
-
-
Bilbe, G.1
Delabie, J.2
Bruggen, J.3
Richener, H.4
Asselbergs, F.A.5
Cerletti, N.6
Sorg, C.7
Odink, K.8
Tarcsay, L.9
Wiesendanger, W.10
DeWolf-Peters, C.11
Shipman, P.12
-
3
-
-
0029051052
-
Detection of hemizygosity at the elastin locus by FISH as a diagnostic test in both classical and atypical cases of Williams syndrome
-
Borg, I., Delhanty, J. D. A., and Baraitser, M. (1995). Detection of hemizygosity at the elastin locus by FISH as a diagnostic test in both classical and atypical cases of Williams syndrome. J. Med. Genet. 32: 692-696.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 692-696
-
-
Borg, I.1
Delhanty, J.D.A.2
Baraitser, M.3
-
4
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
-
Buiting, K., Saitoh, S., Gross, S., Dittrich, B., Schwartz, S., Nicholls, R. D., and Horsthemke, B. (1995). Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet. 9: 395-400.
-
(1995)
Nature Genet.
, vol.9
, pp. 395-400
-
-
Buiting, K.1
Saitoh, S.2
Gross, S.3
Dittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
Horsthemke, B.7
-
5
-
-
0028129989
-
Conserved structures and diversity of functions of RNA-binding proteins
-
Burd, C. G., and Dreyfuss, G. (1994). Conserved structures and diversity of functions of RNA-binding proteins. Science 265: 615-621.
-
(1994)
Science
, vol.265
, pp. 615-621
-
-
Burd, C.G.1
Dreyfuss, G.2
-
6
-
-
0028815790
-
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2
-
Chen, K. S., Gunaratne, P. H., Hoheisel, J. D., Young, I. G., Miklos, G. L., Greenberg, F., Shaffer, L. G., Campbell, H. D., and Lupski, J. R. (1995). The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am. J. Hum. Genet. 56: 175-182.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 175-182
-
-
Chen, K.S.1
Gunaratne, P.H.2
Hoheisel, J.D.3
Young, I.G.4
Miklos, G.L.5
Greenberg, F.6
Shaffer, L.G.7
Campbell, H.D.8
Lupski, J.R.9
-
7
-
-
0026598237
-
Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells
-
Chen, M., Pan, Z.-Q., and Hurwitz, J. (1992). Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells. Proc. Natl. Acad. Sci. USA 89:2516-2520.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 2516-2520
-
-
Chen, M.1
Pan, Z.-Q.2
Hurwitz, J.3
-
8
-
-
0024499052
-
Familial supravalvular aortic stenosis: A genetic study
-
Chiarella, F., Bricarelli, F. D., Lupi, G., Bellotti, P., Domenicucci, S., and Vecchio, C. (1989). Familial supravalvular aortic stenosis: A genetic study. Am. J. Med. Genet. 26: 86-92.
-
(1989)
Am. J. Med. Genet.
, vol.26
, pp. 86-92
-
-
Chiarella, F.1
Bricarelli, F.D.2
Lupi, G.3
Bellotti, P.4
Domenicucci, S.5
Vecchio, C.6
-
9
-
-
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., and Keating, M. T. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73: 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
-
10
-
-
0028958564
-
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
-
Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G. A., Thomas, G., and Aurias, A. (1995). Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet. 4: 551-558.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 551-558
-
-
Demczuk, S.1
Aledo, R.2
Zucman, J.3
Delattre, O.4
Desmaze, C.5
Dauphinot, L.6
Jalbert, P.7
Rouleau, G.A.8
Thomas, G.9
Aurias, A.10
-
11
-
-
0028875314
-
Haploinsufficiency of cytosolic serine hydroxymethyl-transferase in the Smith-Magenis syndrome
-
Elsea, S. H., Juyal, R. C., Jiralerspong, S., Finucane, B. M., Pandolfo, M., Greenberg, F., Baldini, A., Stover, P., and Patel, P. I. (1995). Haploinsufficiency of cytosolic serine hydroxymethyl-transferase in the Smith-Magenis syndrome. Am. J. Hum. Genet. 57: 1342-1350.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1342-1350
-
-
Elsea, S.H.1
Juyal, R.C.2
Jiralerspong, S.3
Finucane, B.M.4
Pandolfo, M.5
Greenberg, F.6
Baldini, A.7
Stover, P.8
Patel, P.I.9
-
12
-
-
0027481680
-
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7
-
Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., and Keating, M. (1993a). A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc. Natl. Acad. Sci. USA 90: 3226-3230.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 3226-3230
-
-
Ewart, A.K.1
Morris, C.A.2
Ensing, G.J.3
Loker, J.4
Moore, C.5
Leppert, M.6
Keating, M.7
-
13
-
-
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., and Keating, M. T. (1993b). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet. 5: 11-16.
-
(1993)
Nature 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
-
14
-
-
0028294413
-
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
-
Ewart, A. K., Jin, W., Atkinson, D., Morris, C. A., and Keating, M. T. (1994). Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93: 1071-1077.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1071-1077
-
-
Ewart, A.K.1
Jin, W.2
Atkinson, D.3
Morris, C.A.4
Keating, M.T.5
-
15
-
-
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., Pröschel, C., Gutowski, N. J., Noble, M., Atkinson, D. L., Odelberg, S. J., and Keating, M. T. (1996). LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86: 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
-
16
-
-
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., and Munnich, A. (1995). A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 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
-
17
-
-
0025070995
-
Williams syndrome professional symposium
-
Greenberg, F. (1990). Williams syndrome professional symposium. Am. J. Med. Genet. 6(SuppL): 85-88.
-
(1990)
Am. J. Med. Genet.
, vol.6
, Issue.SUPPL.
, pp. 85-88
-
-
Greenberg, F.1
-
18
-
-
0026667606
-
High resolution mapping of mammalian genes by in situ hybridization to free chromatin
-
Heng, H. H. Q., Squire, J., and Tsui, L.-C. (1992). High resolution mapping of mammalian genes by in situ hybridization to free chromatin. Proc. Natl. Acad. Sci. USA 89: 9509-9513.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 9509-9513
-
-
Heng, H.H.Q.1
Squire, J.2
Tsui, L.-C.3
-
19
-
-
0027225483
-
Modes of DAPI banding and simultaneous in situ hybridization
-
Heng, H. H. Q., and Tsui, L.-C. (1993). Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 102: 325-332.
-
(1993)
Chromosoma
, vol.102
, pp. 325-332
-
-
Heng, H.H.Q.1
Tsui, L.-C.2
-
20
-
-
0025891138
-
Homology of a 150K cytoplasmic dynein-associated polypeptide with the Drosophila gene Glued
-
Holzbaur, E. L. F., Hammarback, J. A., Paschal, B. M., Kravit, N. G., Pfister, K. K., and Vallee, R. B. (1991). Homology of a 150K cytoplasmic dynein-associated polypeptide with the Drosophila gene Glued. Nature 351: 579-583.
-
(1991)
Nature
, vol.351
, pp. 579-583
-
-
Holzbaur, E.L.F.1
Hammarback, J.A.2
Paschal, B.M.3
Kravit, N.G.4
Pfister, K.K.5
Vallee, R.B.6
-
21
-
-
0000263731
-
Alternative splicing of human elastin mRNA demonstrated by sequence analysis of cloned genomic and complementary DNA
-
Indik, Z., Yeh, H., Ornstein-Goldstein, N., Sheppard, P., Anderson, N., Rosenbloom, J. C., Peltonen, L., and Rosenbloom, J. (1987). Alternative splicing of human elastin mRNA demonstrated by sequence analysis of cloned genomic and complementary DNA. Proc. Natl. Acad. Sci. USA 84: 5680-5684.
-
(1987)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 5680-5684
-
-
Indik, Z.1
Yeh, H.2
Ornstein-Goldstein, N.3
Sheppard, P.4
Anderson, N.5
Rosenbloom, J.C.6
Peltonen, L.7
Rosenbloom, J.8
-
22
-
-
0028318417
-
A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
-
Ioannou, P. A., Amemiya, C. T., Garnes, J., Kroisel, P. M., Shizuya, H., Chen, C., Batzer, M. A., and de Jong, P. J. (1994). A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6: 84-89.
-
(1994)
Nature Genet.
, vol.6
, pp. 84-89
-
-
Ioannou, P.A.1
Amemiya, C.T.2
Garnes, J.3
Kroisel, P.M.4
Shizuya, H.5
Chen, C.6
Batzer, M.A.7
De Jong, P.J.8
-
23
-
-
0029073758
-
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus
-
Kotzot, D., Bernasconi, F., Brecevic, L., Robinson, W. P., Kiss, P., Kosztolanyi, G., Lurie, I. W., Superti-Furga, A., and Schinzel, A. (1995). Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur. J. Pediatr. 154: 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
-
24
-
-
0028915336
-
Isolation and characterization of a novel gene deleted in DiGeorge syndrome
-
Kurahashi, H., Akagi, K., Inazawa, J., Ohta, T., Niikawa, N., Kayatani, F., Sano, T., Okado, S., and Nishisho, I. (1995). Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum. Mol. Genet. 4: 541-549.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 541-549
-
-
Kurahashi, H.1
Akagi, K.2
Inazawa, J.3
Ohta, T.4
Niikawa, N.5
Kayatani, F.6
Sano, T.7
Okado, S.8
Nishisho, I.9
-
25
-
-
0029038946
-
A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressers cloned from the DiGeorge syndrome critical region
-
Lamour, V., Lecluse, Y., Desmaze, C., Spector, M., Bodescot, M., Aurias, A., Osley, M. A., and Lipinski, M. (1995). A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressers cloned from the DiGeorge syndrome critical region. Hum. Mol. Genet. 4: 791-799.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 791-799
-
-
Lamour, V.1
Lecluse, Y.2
Desmaze, C.3
Spector, M.4
Bodescot, M.5
Aurias, A.6
Osley, M.A.7
Lipinski, M.8
-
26
-
-
0001745242
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
-
(C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), McGraw-Hill, New York
-
Ledbetter, D. H., and Ballabio, A. (1995). Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In "The Molecular Basis of Inherited Disease" (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), pp.811-839, McGraw-Hill, New York.
-
(1995)
The Molecular Basis of Inherited Disease
, pp. 811-839
-
-
Ledbetter, D.H.1
Ballabio, A.2
-
27
-
-
0024412161
-
Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replication in vitro
-
Lee, S.-H., Kwong, A. D., Ishimi, Y., and Hurwitz, J. (1989). Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replication in vitro. Proc. Natl. Acad. Sci. USA 86: 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
-
28
-
-
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., and Brothman, A. R. (1995). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am. J. Hum. Genet. 57: 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
-
29
-
-
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., and Dallapiccola, B. (1995). Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum. Genet. 96: 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
-
30
-
-
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., and Nakamura, T. (1994). Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif. Oncogene 9: 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
-
31
-
-
0023688145
-
Natural history of Williams syndrome: Physical characteristics
-
Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts C., and Blackburn, B. L. (1988). Natural history of Williams syndrome: Physical characteristics. J. Pediatr. 113: 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
-
32
-
-
0027366004
-
Williams syndrome: Autosomal dominant inheritance
-
Morris, C. A., Thomas, I. T., and Greenberg, F. (1993). Williams syndrome: Autosomal dominant inheritance. Am. J. Med. Genet. 47: 478-481.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 478-481
-
-
Morris, C.A.1
Thomas, I.T.2
Greenberg, F.3
-
33
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome
-
Nickerson, E., Greenberg, F., Keating, M. T., McCaskill, C., and Shaffer, L. G. (1995). Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 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
-
34
-
-
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., and Tabata, S. (1994). 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: 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
-
35
-
-
0029594144
-
Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs
-
Okano, I., Hiraoka, J., Otera, H., Nunoue, K., Ohashi, K., Iwashita, S., Hirai, M., and Mizuno, K. (1995). Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs. J. Biol. Chem. 52: 31321-31330.
-
(1995)
J. Biol. Chem.
, vol.52
, pp. 31321-31330
-
-
Okano, I.1
Hiraoka, J.2
Otera, H.3
Nunoue, K.4
Ohashi, K.5
Iwashita, S.6
Hirai, M.7
Mizuno, K.8
-
36
-
-
0028919274
-
Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23
-
Okumura, K., Nogami, K. M., Taguchi, H., Dean, F. B., Chen, M., Pan, Z.-Q., Hurwitz, J., Shiratiri, A., Murakami, Y., Ozawa, K., and Eki, T. (1994). Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Genomics 25: 274-278.
-
(1994)
Genomics
, vol.25
, pp. 274-278
-
-
Okumura, K.1
Nogami, K.M.2
Taguchi, H.3
Dean, F.B.4
Chen, M.5
Pan, Z.-Q.6
Hurwitz, J.7
Shiratiri, A.8
Murakami, Y.9
Ozawa, K.10
Eki, T.11
-
37
-
-
0027236402
-
Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7
-
Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H., and Thibodeau, S. N. (1993). Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7. Hum. Mol. Genet. 2: 869-873.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 869-873
-
-
Olson, T.M.1
Michels, V.V.2
Lindor, N.M.3
Pastores, G.M.4
Weber, J.L.5
Schaid, D.J.6
Driscoll, D.J.7
Feldt, R.H.8
Thibodeau, S.N.9
-
38
-
-
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., Christiane, A. M., Driscoll, D. J., Feldt, R. H., Boyd, C. D., and Thibodeau, S. N. (1995). A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum. Mol. Genet. 4: 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
Christiane, A.M.5
Driscoll, D.J.6
Feldt, R.H.7
Boyd, C.D.8
Thibodeau, S.N.9
-
39
-
-
0011900306
-
Physical mapping of the elastin gene region at 7q11.23
-
Osborne, L. R., Scherer, S. W., Heng, H. H. Q., Shi, X.-M., and Tsui, L.-C. (1995). Physical mapping of the elastin gene region at 7q11.23. Cytogenet. Cell Genet. 71: 23.
-
(1995)
Cytogenet. Cell Genet.
, vol.71
, pp. 23
-
-
Osborne, L.R.1
Scherer, S.W.2
Heng, H.H.Q.3
Shi, X.-M.4
Tsui, L.-C.5
-
40
-
-
0026793891
-
CLIP-170 links endocytic vesicles to microtubules
-
Pierre, P., Scheel, J., Rickard, J. E., and Kreis, T. E. (1992). CLIP-170 links endocytic vesicles to microtubules. Cell 70: 887-900.
-
(1992)
Cell
, vol.70
, pp. 887-900
-
-
Pierre, P.1
Scheel, J.2
Rickard, J.E.3
Kreis, T.E.4
-
41
-
-
0002498561
-
-
(U. Hochgeschwender and K. Gardiner, Eds.), Plenum, New York
-
Rommens, J. M., Mar, L., McArthur, J., Tsui, L.-C., and Scherer, S. W. (1994). In "The identification of transcribed sequences" (U. Hochgeschwender and K. Gardiner, Eds.), pp. 65-79, Plenum, New York.
-
(1994)
The Identification of Transcribed Sequences
, pp. 65-79
-
-
Rommens, J.M.1
Mar, L.2
McArthur, J.3
Tsui, L.-C.4
Scherer, S.W.5
-
42
-
-
0003436266
-
-
(M. D. Adams, C. Fields, and J. C. Venter, Eds.), Academic Press, San Diego
-
Rowen, L., and Koop, B. F. (1994). In "Automated DNA Sequencing and Analysis" (M. D. Adams, C. Fields, and J. C. Venter, Eds.), Academic Press, San Diego.
-
(1994)
Automated DNA Sequencing and Analysis
-
-
Rowen, L.1
Koop, B.F.2
-
43
-
-
0027429044
-
The Williams syndrome: Evidence for possible autosomal dominant inheritance
-
Sadler, L. S., Robinson, L. K., Verdaasdonk, K. R., and Gingell, R. (1993). The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am. J. Med. Genet. 47: 486-470.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 486-1470
-
-
Sadler, L.S.1
Robinson, L.K.2
Verdaasdonk, K.R.3
Gingell, R.4
-
44
-
-
0003903343
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," 2nd ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1989)
"Molecular Cloning: A Laboratory Manual," 2nd Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
45
-
-
0028060189
-
The LIM domain: A new structural motif found in zinc-finger-like proteins
-
Sanchez-Garcia, I., and Rabbitts, T. H. (1994). The LIM domain: A new structural motif found in zinc-finger-like proteins. Trends Genet. 10: 315-321.
-
(1994)
Trends Genet.
, vol.10
, pp. 315-321
-
-
Sanchez-Garcia, I.1
Rabbitts, T.H.2
-
46
-
-
0026450068
-
A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes
-
Scherer, S. W., Tompkins, B. J. F., and Tsui, L.-C. (1992). A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes. Mamm. Genome 3: 179-181.
-
(1992)
Mamm. Genome
, vol.3
, pp. 179-181
-
-
Scherer, S.W.1
Tompkins, B.J.F.2
Tsui, L.-C.3
-
47
-
-
0022916035
-
Contiguous gene syndromes: A component of recognizable syndromes
-
Schmickel, R. D. (1986). Contiguous gene syndromes: A component of recognizable syndromes. J. Pediatr. 109: 231-241.
-
(1986)
J. Pediatr.
, vol.109
, pp. 231-241
-
-
Schmickel, R.D.1
-
48
-
-
0027327486
-
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
-
Siomi, H., Siomi, M. C., Nussbaum, R. L., and Dreyfuss, G. (1993). The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74: 291-298.
-
(1993)
Cell
, vol.74
, pp. 291-298
-
-
Siomi, H.1
Siomi, M.C.2
Nussbaum, R.L.3
Dreyfuss, G.4
-
49
-
-
0023404054
-
Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster
-
Swaroop, A., Swaroop, M., and Garen, A. (1987). Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster. Proc. Natl. Acad. Sci. USA 84: 6501-6505.
-
(1987)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 6501-6505
-
-
Swaroop, A.1
Swaroop, M.2
Garen, A.3
-
50
-
-
0005873096
-
LIM-kinase deleted in Williams syndrome
-
Tassabehji, M., Metcalfe, K., Fergusson, W. D., Carette, M. J. A., Dore, J. K., Donnai, D., Read, A. P., Proschel, C., Gutowski, N. J., Mao, X., and Sheer, D. (1996). LIM-kinase deleted in Williams syndrome. Nature Genet. 13: 272-273.
-
(1996)
Nature Genet.
, vol.13
, pp. 272-273
-
-
Tassabehji, M.1
Metcalfe, K.2
Fergusson, W.D.3
Carette, M.J.A.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
-
51
-
-
0023376280
-
Two genes required for cell fusion during yeast conjugation: Evidence for a pheromone-induced surface protein
-
Trueheart, J., Boeke, J. D., and Fink, G. (1987). Two genes required for cell fusion during yeast conjugation: Evidence for a pheromone-induced surface protein. Mol. Cell. Biol. 7: 2316-2328.
-
(1987)
Mol. Cell. Biol.
, vol.7
, pp. 2316-2328
-
-
Trueheart, J.1
Boeke, J.D.2
Fink, G.3
-
52
-
-
0024509284
-
Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DNA replication in vitro
-
Tsurimoto, T., and Stillman, B. (1989). Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DNA replication in vitro. Mol. Cell. Biol. 9: 609-619.
-
(1989)
Mol. Cell. Biol.
, vol.9
, pp. 609-619
-
-
Tsurimoto, T.1
Stillman, B.2
-
53
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
-
Uberbacher, E., and Mural, M. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.1
Mural, M.2
-
54
-
-
0028010011
-
Physical mapping studies at D15S10: Implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13
-
Woodage, T., Lindeman, R., Deng, Z. M., Fimmel, A., Smith, A., and Trent, R. J. (1994). Physical mapping studies at D15S10: Implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. Genomics 19: 170-172.
-
(1994)
Genomics
, vol.19
, pp. 170-172
-
-
Woodage, T.1
Lindeman, R.2
Deng, Z.M.3
Fimmel, A.4
Smith, A.5
Trent, R.J.6
-
55
-
-
0028835212
-
BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results
-
Worley, K. C., Wiese, B. A., and Smith, R. F. (1995). BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Res. 5: 173-184.
-
(1995)
Genome Res.
, vol.5
, pp. 173-184
-
-
Worley, K.C.1
Wiese, B.A.2
Smith, R.F.3
-
56
-
-
0028987799
-
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
-
Zhao, Z., Lee, C. C., Jiralerspong, S., Juyal, R. C., Lu, F., Baldini, A., Greenberg, F., Caskey, C. T., and Patel, P. I. (1995). The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum. Mol. Genet. 4: 589-597.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 589-597
-
-
Zhao, Z.1
Lee, C.C.2
Jiralerspong, S.3
Juyal, R.C.4
Lu, F.5
Baldini, A.6
Greenberg, F.7
Caskey, C.T.8
Patel, P.I.9
|