|
🐜
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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
12 auth.
C. Alexander,
M. Votruba,
U. E. Pesch,
D. Thiselton,
S. Mayer,
A. Moore,
...
M. Rodríguez,
U. Kellner,
B. Leo-Kottler,
G. Auburger,
S. Bhattacharya,
B. Wissinger
|
10 |
2000 |
10
🐜
|
|
🐬
|
Recommendations on Screening for Chloroquine and Hydroxychloroquine Retinopathy (2016 Revision).
M. Marmor,
U. Kellner,
T. Lai,
R. Melles,
W. Mieler
|
9 |
2016 |
9
🐬
|
|
🐬
|
Revised recommendations on screening for chloroquine and hydroxychloroquine retinopathy.
M. Marmor,
U. Kellner,
T. Lai,
J. S. Lyons,
W. Mieler
|
9 |
2002 |
9
🐬
|
|
🐜
|
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
18 auth.
A. D. den Hollander,
J. T. ten Brink,
Yvette J.M. de Kok,
S. van Soest,
L. I. van den Born,
M. V. van Driel,
D. V. D. van de Pol,
A. Payne,
S. Bhattacharya,
U. Kellner,
...
C. Hoyng,
A. Westerveld,
H. Brunner,
E. Bleeker-Wagemakers,
A. Deutman,
J. Heckenlively,
F. Cremers,
A. Bergen
|
8 |
1999 |
8
🐜
|
|
🐜
|
Safety and efficacy of a flexible dosing regimen of ranibizumab in neovascular age-related macular degeneration: the SUSTAIN study.
8 auth.
F. Holz,
W. Amoaku,
J. Donate,
R. Guymer,
U. Kellner,
R. Schlingemann,
...
A. Weichselberger,
G. Staurenghi
|
8 |
2011 |
8
🐜
|
|
🐜
|
Next-generation genetic testing for retinitis pigmentosa
23 auth.
K. Neveling,
R. Collin,
C. Gilissen,
Ramon A C van Huet,
L. Visser,
Michael P. Kwint,
Sabine Gijsen,
Marijke N. Zonneveld,
Nienke Wieskamp,
J. de Ligt,
...
Anna Siemiątkowska,
L. Hoefsloot,
Michael F. Buckley,
U. Kellner,
K. Branham,
A. D. den Hollander,
A. Hoischen,
C. Hoyng,
B. J. Klevering,
L. I. van den Born,
J. Veltman,
F. Cremers,
H. Scheffer
|
8 |
2012 |
8
🐜
|
|
🐬
|
X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms
R. Molday,
U. Kellner,
B. Weber
|
8 |
2012 |
8
🐬
|
|
🐜
|
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
8 auth.
S. Kohl,
Britta Baumann,
T. Rosenberg,
U. Kellner,
B. Lorenz,
M. Vadala',
...
S. Jacobson,
B. Wissinger
|
8 |
2002 |
8
🐜
|
|
🐜
|
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
28 auth.
S. Kohl,
B. Varsányi,
Gesine Abadin Antunes,
Britta Baumann,
C. Hoyng,
H. Jägle,
T. Rosenberg,
U. Kellner,
B. Lorenz,
R. Salati,
B. Jurklies,
Á. Farkas,
S. Andreasson,
R. Weleber,
S. Jacobson,
...
G. Rudolph,
C. Castellan,
H. Dollfus,
E. Legius,
M. Anastasi,
P. Bitoun,
D. Lev,
P. Sieving,
F. Munier,
E. Zrenner,
L. Sharpe,
F. Cremers,
B. Wissinger
|
7 |
2005 |
7
🐜
|
|
🐜
|
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
30 auth.
I. Audo,
S. Kohl,
B. Leroy,
F. Munier,
X. Guillonneau,
S. Mohand-Saïd,
K. Bujakowska,
E. Nandrot,
B. Lorenz,
M. Preising,
U. Kellner,
A. Renner,
A. Bernd,
A. Antonio,
V. Moskova-Doumanova,
...
Marie‐Elise Lancelot,
C. Poloschek,
I. Drumare,
S. Defoort‐Dhellemmes,
B. Wissinger,
T. Léveillard,
C. Hamel,
D. Schorderet,
E. de Baere,
W. Berger,
S. Jacobson,
E. Zrenner,
J. Sahel,
S. Bhattacharya,
C. Zeitz
|
7 |
2009 |
7
🐜
|
|
🐜
|
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
17 auth.
Franziska Krämer,
K. White,
D. Pauleikhoff,
A. Gehrig,
Lori A. Passmore,
A. Rivera,
G. Rudolph,
U. Kellner,
M. Andrassi,
B. Lorenz,
...
K. Rohrschneider,
A. Blankenagel,
B. Jurklies,
H. Schilling,
F. Schütt,
F. Holz,
Bernhard H. F. Weber
|
7 |
2000 |
7
🐜
|
|
🐜
|
CRB1 mutation spectrum in inherited retinal dystrophies
13 auth.
A. D. den Hollander,
Jason J. Davis,
S. D. van der Velde-Visser,
Marijke N. Zonneveld,
C. Pierrottet,
R. Koenekoop,
U. Kellner,
L. I. van den Born,
J. Heckenlively,
C. Hoyng,
...
P. Handford,
R. Roepman,
F. Cremers
|
7 |
2004 |
7
🐜
|
