|
🐜
|
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
12 auth.
I. Zito,
Susan M. Downes,
Rj Patel,
M. Cheetham,
N. Ebenezer,
Sharon Jenkins,
...
S. Bhattacharya,
A. R. Webster,
G. Holder,
A. Bird,
D. Bamiou,
A. Hardcastle
|
9 |
2003 |
9
🐜
|
|
🐜
|
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
10 auth.
Rosemary E. Kelsell,
K. Gregory-Evans,
A. Payne,
I. Perrault,
J. Kaplan,
Ruey‐Bing Yang,
...
D. L. Garbers,
A. Bird,
A. T. Moore,
David M. Hunt
|
7 |
1998 |
7
🐜
|
|
🐜
|
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
8 auth.
A. Payne,
Alex G. Morris,
Susan M. Downes,
Samantha Johnson,
A. Bird,
A. T. Moore,
...
S. Bhattacharya,
David M. Hunt
|
7 |
2001 |
7
🐜
|
|
🐜
|
Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma
8 auth.
D. Bessant,
A. Payne,
Bryan E. Snow,
Guillermo Antinolo,
S. Q. Mehdi,
A. Bird,
...
D. Siderovski,
S. Bhattacharya
|
7 |
2000 |
7
🐜
|
|
🐜
|
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
8 auth.
Mai Al‐Maghtheh,
C. Inglehearn,
T. Keen Jeffrey,
K. Evans,
A. Moore,
Marcelle Jay,
...
A. Bird,
S. Bhattacharya
|
6 |
1994 |
6
🐜
|
|
🐢
|
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
7 auth.
Susan M. Downes,
G. Holder,
F. Fitzke,
A. Payne,
Martin J. Warren,
S. Bhattacharya,
...
A. Bird
|
6 |
2001 |
6
🐢
|
|
🐜
|
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
12 auth.
S. J. Bowne,
S. Daiger,
Matthew M. Hims,
M. Sohocki,
Kimberly A. Malone,
A. McKie,
...
John R. Heckenlively,
David G. Birch,
C. Inglehearn,
S. Bhattacharya,
A. Bird,
L. Sullivan
|
6 |
1999 |
6
🐜
|
|
🐢
|
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
8 auth.
Susan M. Downes,
A. Payne,
Rosemary E. Kelsell,
F. Fitzke,
G. Holder,
David M. Hunt,
...
A. T. Moore,
A. Bird
|
6 |
2001 |
6
🐢
|
|
🐜
|
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
13 auth.
K. Gregory-Evans,
K. Gregory-Evans,
Rosemary E. Kelsell,
C. Gregory‐Evans,
Susan M. Downes,
F. Fitzke,
G. Holder,
Matthew P. Simunovic,
J. Mollon,
Rachel Taylor,
...
David M. Hunt,
A. Bird,
A. T. Moore
|
6 |
2000 |
6
🐜
|
|
🐢
|
Familial cavernous hemangioma: An expanding ocular spectrum.
David Sarraf,
Annette M. Payne,
Neil D. Kitchen,
Kulwant S. Sehmi,
Susan M. Downes,
A. Bird
|
5 |
2000 |
5
🐢
|
