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Edwin M. Stone
Edwin M. Stone
University of Iowa, Carver College of Medicine, Department of Ophthalmology and Visual Sciences
Bestätigte E-Mail-Adresse bei uiowa.edu - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Safety and efficacy of gene transfer for Leber's congenital amaurosis
AM Maguire, F Simonelli, EA Pierce, EN Pugh Jr, F Mingozzi, J Bennicelli, ...
New England Journal of Medicine 358 (21), 2240-2248, 2008
24052008
Identification of a gene that causes primary open angle glaucoma
EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ...
Science 275 (5300), 668-670, 1997
16871997
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
S Russell, J Bennett, JA Wellman, DC Chung, ZF Yu, A Tillman, J Wittes, ...
The Lancet 390 (10097), 849-860, 2017
11672017
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
JR Howe, S Roth, JC Ringold, RW Summers, HJ Järvinen, P Sistonen, ...
Science 280 (5366), 1086-1088, 1998
11161998
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
AM Maguire, KA High, A Auricchio, JF Wright, EA Pierce, F Testa, ...
The Lancet 374 (9701), 1597-1605, 2009
9512009
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
VC Sheffield, JS Beck, AE Kwitek, DW Sandstrom, EM Stone
Genomics 16 (2), 325-332, 1993
9381993
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
AV Cideciyan, TS Aleman, SL Boye, SB Schwartz, S Kaushal, AJ Roman, ...
Proceedings of the National Academy of Sciences 105 (39), 15112-15117, 2008
7782008
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ...
Archives of ophthalmology 130 (1), 9-24, 2012
7042012
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
VC Sheffield, EM Stone, WLM Alward, AV Drack, AT Johnson, LM Streb, ...
Nature genetics 4 (1), 47-50, 1993
5851993
Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)
WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ...
New England Journal of Medicine 338 (15), 1022-1027, 1998
5261998
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
DY Nishimura, RE Swiderski, WLM Alward, CC Searby, SR Patil, ...
Nature genetics 19 (2), 140-147, 1998
5091998
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)
AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ...
Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006
4972006
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ...
Nature genetics 22 (2), 199-202, 1999
4951999
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
NB Haider, SG Jacobson, AV Cideciyan, R Swiderski, LM Streb, C Searby, ...
Nature genetics 24 (2), 127-131, 2000
4892000
Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde 3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle
A Dugaiczyk, JA Haron, EM Stone, OE Dennison, KN Rothblum, ...
Biochemistry 22 (7), 1605-1613, 1983
4771983
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
DY Nishimura, RE Swiderski, CC Searby, EM Berg, AL Ferguson, ...
The American Journal of Human Genetics 77 (6), 1021-1033, 2005
474*2005
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ...
Nature genetics 31 (4), 435-438, 2002
4112002
Leber congenital amaurosis–a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
EM Stone
American journal of ophthalmology 144 (6), 791-811. e6, 2007
4102007
Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
S Biswas, FL Munier, J Yardley, N Hart-Holden, R Perveen, P Cousin, ...
Human molecular genetics 10 (21), 2415-2423, 2001
4022001
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
DY Nishimura, M Fath, RF Mullins, C Searby, M Andrews, R Davis, ...
Proceedings of the National Academy of Sciences 101 (47), 16588-16593, 2004
3952004
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