|
π
|
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
17 auth.
A. Cideciyan,
T. Aleman,
S. Boye,
S. Schwartz,
S. Kaushal,
A. J. Roman,
J. Pang,
A. Sumaroka,
E. A. Windsor,
James M. Wilson,
...
T. Flotte,
G. Fishman,
E. HΓ©on,
E. Stone,
B. Byrne,
S. Jacobson,
W. Hauswirth
|
9 |
2008 |
9
π
|
|
π
|
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
24 auth.
S. Jacobson,
A. Cideciyan,
R. Ratnakaram,
E. HΓ©on,
S. Schwartz,
A. J. Roman,
M. Peden,
T. Aleman,
S. Boye,
A. Sumaroka,
...
T. Conlon,
R. Calcedo,
J. Pang,
Kirsten E. Erger,
Melani B. Olivares,
Cristina L. Mullins,
M. Εwider,
S. Kaushal,
W. Feuer,
A. Iannaccone,
G. Fishman,
E. Stone,
B. Byrne,
W. Hauswirth
|
9 |
2012 |
9
π
|
|
π
|
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
18 auth.
N. Haider,
S. Jacobson,
A. Cideciyan,
R. Swiderski,
L. Streb,
C. Searby,
G. Beck,
R. Hockey,
David B. Hanna,
S. Gorman,
...
D. Duhl,
R. Carmi,
J. Bennett,
R. Weleber,
G. Fishman,
A. Wright,
E. Stone,
V. Sheffield
|
8 |
2000 |
8
π
|
|
π¬
|
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
H. Morimura,
G. Fishman,
S. Grover,
A. Fulton,
E. Berson,
T. Dryja
|
8 |
1998 |
8
π¬
|
|
π
|
Loss-of-function mutations in a calcium-channel Ξ±1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
10 auth.
N. BechβHansen,
M. Naylor,
T. Maybaum,
W. Pearce,
W. Pearce,
B. Koop,
...
G. Fishman,
M. Mets,
M. Musarella,
K. Boycott
|
8 |
1998 |
8
π
|
|
π
|
In vivo imaging of human cone photoreceptor inner segments.
7 auth.
Drew H Scoles,
Y. Sulai,
C. Langlo,
G. Fishman,
C. Curcio,
J. Carroll,
...
A. Dubra
|
8 |
2014 |
8
π
|
|
π
|
Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
12 auth.
P. Swain,
Shiming Chen,
Qing-liang Wang,
Louisa M. Affatigato,
C. Coats,
Kevin D. Brady,
...
G. Fishman,
S. Jacobson,
A. Swaroop,
E. Stone,
P. Sieving,
D. Zack
|
8 |
1997 |
8
π
|
|
π
|
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
8 auth.
T. Dryja,
T. L. McGee,
E. Berson,
G. Fishman,
M. Sandberg,
K. Alexander,
...
D. Derlacki,
Aruna S. Rajagopalan
|
7 |
2005 |
7
π
|
|
π
|
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
21 auth.
D. Breuer,
B. Yashar,
E. Filippova,
S. Hiriyanna,
R. Lyons,
A. Mears,
B. Asaye,
C. Acar,
R. Vervoort,
A. Wright,
...
M. Musarella,
P. Wheeler,
I. MacDonald,
A. Iannaccone,
D. Birch,
D. Hoffman,
G. Fishman,
J. Heckenlively,
S. Jacobson,
P. Sieving,
A. Swaroop
|
7 |
2002 |
7
π
|
|
π
|
Mutations in the CRB1 gene cause Leber congenital amaurosis.
13 auth.
A. Lotery,
S. Jacobson,
G. Fishman,
R. Weleber,
A. Fulton,
P. Namperumalsamy,
E. HΓ©on,
A. Levin,
S. Grover,
Justin Rosenow,
...
Kelly K. Kopp,
V. Sheffield,
E. Stone
|
7 |
2001 |
7
π
|
|
π¦
|
Fundus flavimaculatus. A clinical classification.
G. Fishman
|
7 |
1976 |
7
π¦
|
|
π
|
An analysis of allelic variation in the ABCA4 gene.
15 auth.
A. Webster,
E. HΓ©on,
A. Lotery,
K. Vandenburgh,
T. Casavant,
K. Oh,
G. Beck,
G. Fishman,
B. Lam,
A. Levin,
...
J. Heckenlively,
S. Jacobson,
R. Weleber,
V. Sheffield,
E. Stone
|
7 |
2001 |
7
π
|
