|
🐜
|
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
🐜
|
|
🐬
|
Fundus autofluorescence and mfERG for early detection of retinal alterations in patients using chloroquine/hydroxychloroquine.
U. Kellner,
A. Renner,
H. Tillack
|
7 |
2006 |
7
🐬
|
|
🐜
|
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
52 auth.
I. Audo,
K. Bujakowska,
Elise Orhan,
C. Poloschek,
S. Defoort‐Dhellemmes,
I. Drumare,
S. Kohl,
Tien-Dao Luu,
O. Lecompte,
E. Zrenner,
Marie‐Elise Lancelot,
A. Antonio,
A. Germain,
C. Michiels,
Claire Audier,
...
M. Letexier,
J. Saraiva,
B. Leroy,
F. Munier,
S. Mohand-Saïd,
B. Lorenz,
C. Friedburg,
M. Preising,
U. Kellner,
A. Renner,
V. Moskova-Doumanova,
W. Berger,
B. Wissinger,
C. Hamel,
D. Schorderet,
E. de Baere,
D. Sharon,
E. Banin,
S. Jacobson,
D. Bonneau,
X. Zanlonghi,
G. Le Meur,
I. Casteels,
R. Koenekoop,
V. Long,
F. Meire,
K. Prescott,
T. de Ravel,
I. Simmons,
Hoan Nguyen,
H. Dollfus,
O. Poch,
T. Léveillard,
K. Nguyen-Ba-Charvet,
J. Sahel,
S. Bhattacharya,
C. Zeitz
|
6 |
2012 |
6
🐜
|
|
🦁
|
Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
8 auth.
A. Renner,
H. Tillack,
H. Kraus,
Franziska Krämer,
Nicole Mohr,
B. Weber,
...
M. Foerster,
U. Kellner
|
6 |
2005 |
6
🦁
|
|
🦁
|
MORPHOLOGY AND FUNCTIONAL CHARACTERISTICS IN ADULT VITELLIFORM MACULAR DYSTROPHY
9 auth.
A. Renner,
H. Tillack,
H. Kraus,
S. Kohl,
B. Wissinger,
Nicole Mohr,
...
B. Weber,
U. Kellner,
M. Foerster
|
6 |
2004 |
6
🦁
|
|
🐜
|
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
15 auth.
L. Fritsche,
M. Fleckenstein,
B. Fiebig,
S. Schmitz-Valckenberg,
A. Bindewald-Wittich,
C. Keilhauer,
A. Renner,
F. Mackensen,
A. Mößner,
D. Pauleikhoff,
...
C. Adrion,
U. Mansmann,
H. Scholl,
F. Holz,
B. Weber
|
6 |
2012 |
6
🐜
|
|
🐜
|
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
14 auth.
T. Langmann,
Silvio Alessandro Di Gioia,
I. Rau,
H. Stöhr,
N. Maksimović,
J. Corbo,
A. Renner,
E. Zrenner,
GOVINDASAMY KUMARAMANICKAVEL,
M. Karlstetter,
...
Y. Arsenijevic,
B. Weber,
A. Gal,
C. Rivolta
|
6 |
2010 |
6
🐜
|
|
🦁
|
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
9 auth.
A. Renner,
B. Fiebig,
B. Weber,
B. Wissinger,
S. Andreasson,
A. Gal,
...
E. Cropp,
S. Kohl,
U. Kellner
|
6 |
2009 |
6
🦁
|
|
🦁
|
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
8 auth.
A. Renner,
U. Kellner,
E. Cropp,
M. Preising,
I. MacDonald,
J. A. van den Hurk,
...
F. Cremers,
M. Foerster
|
6 |
2006 |
6
🦁
|
|
🐬
|
Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope
M. Neitz,
J. Carroll,
A. Renner,
H. Knau,
J. Werner,
J. Neitz
|
6 |
2004 |
6
🐬
|
