-
1
-
-
33749705800
-
-
Thesis. New York: Columbia University
-
Arthur L (1991) Thesis. New York: Columbia University.
-
(1991)
-
-
Arthur, L.1
-
2
-
-
0028815790
-
The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2
-
Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Miklos GLG, Greenberg F, Shaffer LG, Campbell HD, Lupski JR (1995): The human homologue of the Drosophila melanogaster flightless-I gene (fliI) 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.G.5
Greenberg, F.6
Shaffer, L.G.7
Campbell, H.D.8
Lupski, J.R.9
-
3
-
-
0000477117
-
The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances
-
Chen K-S, Potocki L, Lupski JR (1996): The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances. Ment Retard Dev Disabil Res Rev 2:122-129.
-
(1996)
Ment Retard Dev Disabil Res Rev
, vol.2
, pp. 122-129
-
-
Chen, K.-S.1
Potocki, L.2
Lupski, J.R.3
-
4
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith ACM, Dobyns WB, Ledbetter DH (1997): A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6:147-155.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 147-155
-
-
Chong, S.S.1
Pack, S.D.2
Roschke, A.V.3
Tanigami, A.4
Carrozzo, R.5
Smith, A.C.M.6
Dobyns, W.B.7
Ledbetter, D.H.8
-
5
-
-
0020823261
-
Flow cytometric measurement of total DNA content and incorporated bromodeoxyuridine
-
Dolbeare F, Gratzner H, Pallavicini MG, Gray JW (1983): Flow cytometric measurement of total DNA content and incorporated bromodeoxyuridine. Proc Natl Acad Sci USA 80:5573-5577.
-
(1983)
Proc Natl Acad Sci USA
, vol.80
, pp. 5573-5577
-
-
Dolbeare, F.1
Gratzner, H.2
Pallavicini, M.G.3
Gray, J.W.4
-
6
-
-
0028875314
-
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome
-
Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI (1995): Haploinsufficiency of cytosolic serine hydroxymethyltransferase 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
-
7
-
-
0023473844
-
Genetic analysis of NF1: Identification of close flanking markers on chromosome 17
-
Fain PR, Barker DF, Goldgar DE, Wright E, Nguyen K, Carey J, Johnson J, Kivlin J, Willard H, Mathew D, Ponder B, Skolnick M (1987): Genetic analysis of NF1: Identification of close flanking markers on chromosome 17. Genomics 1:340-345.
-
(1987)
Genomics
, vol.1
, pp. 340-345
-
-
Fain, P.R.1
Barker, D.F.2
Goldgar, D.E.3
Wright, E.4
Nguyen, K.5
Carey, J.6
Johnson, J.7
Kivlin, J.8
Willard, H.9
Mathew, D.10
Ponder, B.11
Skolnick, M.12
-
8
-
-
0030940537
-
Overexpression of a truncated human topoisomerase II partially corrects multiple aspects of the ataxia-telangiectasia phenotype
-
Fritz E, Elsea SH, Patel PI, Meyn MS (1997): Overexpression of a truncated human topoisomerase II partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc Natl Acad Sci USA 94:4538-4542.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 4538-4542
-
-
Fritz, E.1
Elsea, S.H.2
Patel, P.I.3
Meyn, M.S.4
-
9
-
-
0028033989
-
The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: A potential eukaryotic reverse gyrase
-
Gangloff S, McDonald J, Bendixen C, Arthur L, Rothstein R (1994): The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: A potential eukaryotic reverse gyrase. Mol Cell Biol 14:8391-8398.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 8391-8398
-
-
Gangloff, S.1
McDonald, J.2
Bendixen, C.3
Arthur, L.4
Rothstein, R.5
-
10
-
-
0026347929
-
Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR (1991): Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1207-1218
-
-
Greenberg, F.1
Guzzetta, V.2
Montes De Oca-Luna, R.3
Magenis, R.E.4
Smith, A.C.5
Richter, S.F.6
Kondo, I.7
Dobyns, W.B.8
Patel, P.I.9
Lupski, J.R.10
-
11
-
-
0029920807
-
Multidisciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
-
Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR (1996): Multidisciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254.
-
(1996)
Am J Med Genet
, vol.62
, pp. 247-254
-
-
Greenberg, F.1
Lewis, R.A.2
Potocki, L.3
Glaze, D.4
Parke, J.5
Killian, J.6
Murphy, M.A.7
Williamson, D.8
Brown, F.9
Dutton, R.10
McCluggage, C.11
Friedman, E.12
Sulek, M.13
Lupski, J.R.14
-
12
-
-
0026764342
-
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p
-
Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI (1992): Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics 13:551-559.
-
(1992)
Genomics
, vol.13
, pp. 551-559
-
-
Guzzetta, V.1
Franco, B.2
Trask, B.J.3
Zhang, H.4
Saucedo-Cardenas, O.5
Montes De Oca-Luna, R.6
Greenberg, F.7
Chinault, A.C.8
Lupski, J.R.9
Patel, P.I.10
-
13
-
-
0029986401
-
Human TOP3: A single-copy gene encoding DNA topoisomerase III
-
Hanai R, Caron PC, Wang JC (1996): Human TOP3: A single-copy gene encoding DNA topoisomerase III. Proc Natl Acad Sci USA 93:3653-3657.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 3653-3657
-
-
Hanai, R.1
Caron, P.C.2
Wang, J.C.3
-
14
-
-
0029978246
-
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
-
Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI (1996): Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 998-1007
-
-
Juyal, R.C.1
Figuera, L.E.2
Hauge, X.3
Elsea, S.H.4
Lupski, J.R.5
Greenberg, F.6
Baldini, A.7
Patel, P.I.8
-
15
-
-
0028201453
-
Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital analysis
-
Kallioniemi OP, Kallioniemi A, Mascio L, Sudar D, Pinkel D, Deaven L, Gray J (1994): Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital analysis. Genomics 20:125-128.
-
(1994)
Genomics
, vol.20
, pp. 125-128
-
-
Kallioniemi, O.P.1
Kallioniemi, A.2
Mascio, L.3
Sudar, D.4
Pinkel, D.5
Deaven, L.6
Gray, J.7
-
16
-
-
0028951482
-
Identification of the yeast TOP3 gene product as a single-strand specific DNA topoisomerase
-
Kim RA, Caron PR, Wang JC (1995): Identification of the yeast TOP3 gene product as a single-strand specific DNA topoisomerase. Proc Natl Acad Sci USA 92:2667-2671.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2667-2671
-
-
Kim, R.A.1
Caron, P.R.2
Wang, J.C.3
-
17
-
-
0027429928
-
Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts
-
Meyn MS, Lu-Kuo JM, Herzing LBK (1993): Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts. Am J Hum Genet 53:1206-1216.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1206-1216
-
-
Meyn, M.S.1
Lu-Kuo, J.M.2
Herzing, L.B.K.3
-
18
-
-
0028566172
-
Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia
-
Meyn MS, Strasfeld L, Allen C (1994): Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia. Int J Rad Biol 66:141-149.
-
(1994)
Int J Rad Biol
, vol.66
, pp. 141-149
-
-
Meyn, M.S.1
Strasfeld, L.2
Allen, C.3
-
19
-
-
0025241976
-
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids
-
Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR (1990): Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet 47:926-934.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 926-934
-
-
Patel, P.I.1
Garcia, C.2
Montes De Oca-Luna, R.3
Malamut, R.I.4
Franco, B.5
Slaugenhaupt, S.6
Chakravarti, A.7
Lupski, J.R.8
-
20
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992): The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1:159-165.
-
(1992)
Nat Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
Schoener-Scott, R.4
Trask, B.J.5
Pentao, L.6
Snipes, G.J.7
Garcia, C.A.8
Francke, U.9
Shooter, E.M.10
Lupski, J.R.11
Suter, U.12
-
21
-
-
0029022770
-
Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP
-
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, Breuning, MJ (1995): Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.8
Goodman, R.H.9
Peters, D.J.10
Breuning, M.J.11
-
22
-
-
10544246897
-
Quantification by flow cytometry of chromsome-17 deletions in Smith-Magenis syndrome patients
-
Trask B, Mefford H, van den Engh G, Mass HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski J, Patel PI (1996): Quantification by flow cytometry of chromsome-17 deletions in Smith-Magenis syndrome patients. Hum Genet 98:710-718.
-
(1996)
Hum Genet
, vol.98
, pp. 710-718
-
-
Trask, B.1
Mefford, H.2
Van Den Engh, G.3
Mass, H.F.4
Juyal, R.C.5
Potocki, L.6
Finucane, B.7
Abuelo, D.N.8
Witt, D.R.9
Magenis, E.10
Baldini, A.11
Greenberg, F.12
Lupski, J.13
Patel, P.I.14
-
23
-
-
0025158560
-
A genetic map of human chromosome 17p
-
Wright EC, Goldgar DE, Fain PR, Barker DF, Skolnick MH (1990): A genetic map of human chromosome 17p. Genomics 7:103-109.
-
(1990)
Genomics
, vol.7
, pp. 103-109
-
-
Wright, E.C.1
Goldgar, D.E.2
Fain, P.R.3
Barker, D.F.4
Skolnick, M.H.5
-
24
-
-
0027381005
-
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
-
Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL (1993): Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 47:504-511.
-
(1993)
Am J Med Genet
, vol.47
, pp. 504-511
-
-
Zori, R.T.1
Lupski, J.R.2
Heju, Z.3
Greenberg, F.4
Killian, J.M.5
Gray, B.A.6
Driscoll, D.J.7
Patel, P.I.8
Zackowski, J.L.9
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