|
π
|
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
8 auth.
A. Maugeri,
B. J. Klevering,
K. Rohrschneider,
A. Blankenagel,
H. Brunner,
A. Deutman,
...
C. Hoyng,
F. Cremers
|
8 |
2000 |
8
π
|
|
π¬
|
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
C. Boon,
B. J. Klevering,
B. Leroy,
C. Hoyng,
J. Keunen,
A. D. den Hollander
|
8 |
2009 |
8
π¬
|
|
π
|
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 SiemiΔ
tkowska,
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
π
|
|
π
|
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
15 auth.
A. Maugeri,
M. V. van Driel,
D. V. D. van de Pol,
B. J. Klevering,
Frank J J Van Haren,
N. Tijmes,
A. Bergen,
K. Rohrschneider,
A. Blankenagel,
A. Pinckers,
...
N. Dahl,
H. Brunner,
A. Deutman,
C. Hoyng,
F. Cremers
|
8 |
1999 |
8
π
|
|
π¬
|
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
C. Boon,
A. D. den Hollander,
C. Hoyng,
F. Cremers,
B. J. Klevering,
J. Keunen
|
7 |
2008 |
7
π¬
|
|
π
|
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
11 auth.
R. Collin,
K. W. Littink,
B. J. Klevering,
L. I. van den Born,
R. Koenekoop,
Marijke N. Zonneveld,
...
E. Blokland,
T. Strom,
C. Hoyng,
A. D. den Hollander,
F. Cremers
|
7 |
2008 |
7
π
|
|
π
|
OCT Angiography Compared to Fluorescein and Indocyanine Green Angiography in Chronic Central Serous Chorioretinopathy.
8 auth.
M. Teussink,
M. Breukink,
Mark J. J. P. van Grinsven,
C. Hoyng,
B. J. Klevering,
C. Boon,
...
E. D. de Jong,
T. Theelen
|
7 |
2015 |
7
π
|
|
π¬
|
ABCR unites what ophthalmologists divide(s)
M. V. van Driel,
A. Maugeri,
B. J. Klevering,
C. Hoyng,
F. Cremers
|
7 |
1998 |
7
π¬
|
|
π
|
Early-onset stargardt disease: phenotypic and genotypic characteristics.
9 auth.
S. Lambertus,
Ramon A. C. van Huet,
Nathalie M. Bax,
L. Hoefsloot,
F. Cremers,
C. Boon,
...
C. Boon,
B. J. Klevering,
C. Hoyng
|
7 |
2015 |
7
π
|
|
π’
|
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
9 auth.
C. Boon,
M. V. van Schooneveld,
A. D. den Hollander,
J. V. van Lith-Verhoeven,
Marijke N. Zonneveld-Vrieling,
T. Theelen,
...
F. Cremers,
C. Hoyng,
B. J. Klevering
|
7 |
2007 |
7
π’
|
|
π’
|
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
29 auth.
A. Estrada-Cuzcano,
R. Koenekoop,
A. SΓ©nΓ©Δhal,
E. de Baere,
T. de Ravel,
S. Banfi,
S. Kohl,
C. Ayuso,
D. Sharon,
C. Hoyng,
Christian P. Hamel,
B. Leroy,
C. Ziviello,
I. Lopez,
Alexandre Bazinet,
...
B. Wissinger,
I. Sliesoraityte,
A. Avila-Fernandez,
K. W. Littink,
E. Vingolo,
S. Signorini,
E. Banin,
L. MizrahiβMeissonnier,
E. Zrenner,
U. Kellner,
R. Collin,
A. D. den Hollander,
F. Cremers,
B. J. Klevering
|
6 |
2012 |
6
π’
|
