关注
Daniel J. Driscoll
Daniel J. Driscoll
Professor of Pediatrics, University of Florida
在 peds.ufl.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Prader-willi syndrome
SB Cassidy, S Schwartz, JL Miller, DJ Driscoll
Genetics in medicine 14 (1), 10-26, 2012
14192012
Prader–willi syndrome
SB Cassidy, DJ Driscoll
European journal of human genetics 17 (1), 3-13, 2009
7962009
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
NJ Smilinich, CD Day, GV Fitzpatrick, GM Caldwell, AC Lossie, ...
Proceedings of the National Academy of Sciences 96 (14), 8064-8069, 1999
5241999
Allele-specific replication timing of imprinted gene regions
D Kitsberg, S Selig, M Brandels, I Simon, I Keshet, DJ Driscoll, ...
Nature 364 (6436), 459-463, 1993
5111993
Nutritional phases in Prader–Willi syndrome
JL Miller, CH Lynn, DC Driscoll, AP Goldstone, JA Gold, V Kimonis, ...
American journal of medical genetics Part A 155 (5), 1040-1049, 2011
4642011
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ...
The American Journal of Human Genetics 84 (6), 780-791, 2009
4452009
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
AC Lossie, MM Whitney, D Amidon, HJ Dong, P Chen, D Theriaque, ...
Journal of medical genetics 38 (12), 834-845, 2001
4362001
Imprinting-mutation mechanisms in Prader-Willi syndrome
T Ohta, TA Gray, PK Rogan, K Buiting, JM Gabriel, S Saitoh, B Muralidhar, ...
The American Journal of Human Genetics 64 (2), 397-413, 1999
3541999
Clinical and genetic aspects of Angelman syndrome
CA Williams, DJ Driscoll, AI Dagli
Genetics in Medicine 12 (7), 385-395, 2010
3502010
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
JM Amos-Landgraf, Y Ji, W Gottlieb, T Depinet, AE Wandstrat, SB Cassidy, ...
The American Journal of Human Genetics 65 (2), 370-386, 1999
3271999
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
CC Glenn, S Saitoh, MT Jong, MM Filbrandt, U Surti, DJ Driscoll, ...
American journal of human genetics 58 (2), 335, 1996
2841996
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
MTC Jong, TA Gray, Y Ji, CC Glenn, S Saitoh, DJ Driscoll, RD Nicholls
Human molecular genetics 8 (5), 783-793, 1999
2811999
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
DJ Driscoll, MF Waters, CA Williams, RT Zori, CC Glenn, KM Avidano, ...
Genomics 13 (4), 917-924, 1992
2641992
Prader-willi syndrome
DJ Driscoll, JL Miller, S Schwartz, SB Cassidy
2502017
Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21
MK McCormick, A Schinzel, MB Petersen, G Stetten, DJ Driscoll, ...
Genomics 5 (2), 325-331, 1989
2501989
Functional imprinting and epigenetic modification of the human SNRPN gene
CC Glenn, KA Porter, MTC Jong, RD Nicholls, DJ Driscoll
Human Molecular Genetics 2 (12), 2001-2005, 1993
2111993
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
S Saitoh, K Buiting, PK Rogan, JL Buxton, DJ Driscoll, J Arnemann, ...
Proceedings of the National Academy of Sciences 93 (15), 7811-7815, 1996
2041996
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
CC Glenn, DJ Driscoll, TP Yang, RD Nicholls
Molecular human reproduction 3 (4), 321-332, 1997
1991997
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis
AM Khalil, FZ Boyar, DJ Driscoll
Proceedings of the National Academy of Sciences 101 (47), 16583-16587, 2004
1962004
Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations
DJ Driscoll, BR Migeon
Somatic cell and molecular genetics 16 (3), 267-282, 1990
1911990
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