|
🐜
|
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
14 auth.
A. D. den Hollander,
R. Koenekoop,
S. Yzer,
I. Lopez,
M. Arends,
K. Voesenek,
Marijke N. Zonneveld,
T. Strom,
T. Meitinger,
H. Brunner,
...
C. Hoyng,
L. I. van den Born,
K. Rohrschneider,
F. Cremers
|
9 |
2006 |
9
🐜
|
|
🐜
|
Long-term effect of gene therapy on Leber's congenital amaurosis.
31 auth.
J. Bainbridge,
M. Mehat,
V. Sundaram,
S. Robbie,
S. E. Barker,
C. Ripamonti,
A. Georgiadis,
F. Mowat,
S. Beattie,
Peter J. Gardner,
Kecia L. Feathers,
V. Luong,
S. Yzer,
K. Balaggan,
A. Viswanathan,
...
T. de Ravel,
I. Casteels,
G. Holder,
N. Tyler,
F. Fitzke,
R. Weleber,
M. Nardini,
A. Moore,
Debra Thompson,
S. Petersen-Jones,
M. Michaelides,
L. I. van den Born,
A. Stockman,
Alexander J. Smith,
G. Rubin,
R. Ali
|
9 |
2015 |
9
🐜
|
|
🐜
|
Central serous chorioretinopathy: Towards an evidence-based treatment guideline
20 auth.
Thomas J van Rijssen,
E. H. V. van Dijk,
S. Yzer,
K. Ohno-Matsui,
J. Keunen,
R. Schlingemann,
S. Sivaprasad,
G. Querques,
Susan M. Downes,
S. Fauser,
...
C. Hoyng,
F. Piccolino,
Jay K. Chhablani,
T. Y. Lai,
A. Lotery,
M. Larsen,
Frank G. Holz,
K. Freund,
L. Yannuzzi,
C. Boon
|
8 |
2019 |
8
🐜
|
|
🐜
|
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa
9 auth.
B. J. Klevering,
S. Yzer,
K. Rohrschneider,
Marijke N. Zonneveld,
R. Allikmets,
L. I. Born,
...
A. Maugeri,
C. Hoyng,
F. Cremers
|
6 |
2004 |
6
🐜
|
|
🐜
|
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
23 auth.
Debra Thompson,
A. Janecke,
J. Lange,
Kecia L. Feathers,
C. Hübner,
C. McHenry,
D. Stockton,
G. Rammesmayer,
J. Lupski,
G. Antiñolo,
...
C. Ayuso,
M. Baiget,
P. Gouras,
J. Heckenlively,
A. D. den Hollander,
S. Jacobson,
R. Lewis,
P. Sieving,
B. Wissinger,
S. Yzer,
E. Zrenner,
G. Utermann,
A. Gal
|
6 |
2005 |
6
🐜
|
|
🐜
|
Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy
20 auth.
Carl Schubert,
Anders Pryds,
Shemin Zeng,
Y. Xie,
K. Freund,
R. Spaide,
J. Merriam,
I. Barbazetto,
J. Slakter,
Stanley Chang,
...
I. C. Munch,
A. Drack,
Jasmine Hernández,
S. Yzer,
J. Merriam,
A. Linneberg,
M. Larsen,
L. Yannuzzi,
R. Mullins,
R. Allikmets
|
6 |
2014 |
6
🐜
|
|
🐜
|
Reticular pseudodrusen in early age-related macular degeneration are associated with choroidal thinning.
8 auth.
Aakriti Garg,
M. Oll,
S. Yzer,
Stanley Chang,
G. Barile,
J. Merriam,
...
S. Tsang,
S. Bearelly
|
6 |
2013 |
6
🐜
|
|
🦁
|
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
19 auth.
S. Yzer,
Bart P. Leroy,
E. de Baere,
T. de Ravel,
Marijke N. Zonneveld,
K. Voesenek,
U. Kellner,
J. P. M. Ciriano,
Jan T H N de Faber,
K. Rohrschneider,
...
R. Roepman,
A. D. den Hollander,
J. R. Cruysberg,
F. Meire,
I. Casteels,
Norka van Moll-Ramirez,
R. Allikmets,
L. I. van den Born,
F. Cremers
|
6 |
2006 |
6
🦁
|
|
🐜
|
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
17 auth.
A. Hollander,
I. Lopez,
S. Yzer,
Marijke N. Zonneveld,
I. Janssen,
T. Strom,
J. Hehir-Kwa,
J. Veltman,
M. Arends,
T. Meitinger,
...
M. Musarella,
L. I. Born,
G. Fishman,
I. Maumenee,
K. Rohrschneider,
F. Cremers,
R. Koenekoop
|
6 |
2007 |
6
🐜
|
|
🐜
|
Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
7 auth.
S. Tsang,
T. Burke,
M. Oll,
S. Yzer,
Winston Lee,
Y. Xie,
...
R. Allikmets
|
6 |
2014 |
6
🐜
|
|
🦁
|
Expanded clinical spectrum of enhanced S-cone syndrome.
8 auth.
S. Yzer,
I. Barbazetto,
R. Allikmets,
M. V. van Schooneveld,
A. Bergen,
S. Tsang,
...
S. Jacobson,
L. Yannuzzi
|
5 |
2013 |
5
🦁
|
