|
🐜
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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
11 auth.
S. Gu,
Debra Thompson,
C. Srikumari,
B. Lorenz,
U. Finckh,
A. Nicoletti,
...
K. Murthy,
M. Rathmann,
GOVINDASAMY KUMARAMANICKAVEL,
M. Denton,
A. Gal
|
9 |
1997 |
9
🐜
|
|
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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
15 auth.
T. Strom,
G. Nyakatura,
E. Apfelstedt‐Sylla,
H. Hellebrand,
B. Lorenz,
B. Weber,
Krisztina Wutz,
Nadja Gutwillinger,
K. Rüther,
B. Drescher,
...
C. Sauer,
E. Zrenner,
T. Meitinger,
A. Rosenthal,
A. Meindl
|
8 |
1998 |
8
🐜
|
|
🐜
|
Positional cloning of the gene associated with X-linked juvenile retinoschisis
9 auth.
C. Sauer,
A. Gehrig,
R. Warneke-Wittstock,
A. Marquardt,
C. C. Ewing,
A. Gibson,
...
B. Lorenz,
B. Jurklies,
B. Weber
|
8 |
1997 |
8
🐜
|
|
🐜
|
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
90 auth.
A. Petzold,
L. Balcer,
P. Calabresi,
F. Costello,
T. Frohman,
E. Frohman,
E. Martinez-Lapiscina,
Ari J. Green,
R. Kardon,
O. Outteryck,
F. Paul,
S. Schippling,
P. Vermersch,
P. Villoslada,
L. Balk,
...
O. Aktas,
P. Albrecht,
J. Ashworth,
N. Asgari,
L. Balcer,
L. Balk,
G. Black,
D. Boehringer,
R. Behbehani,
L. Benson,
R. Bermel,
Jacqueline T. Bernard,
A. Brandt,
J. Burton,
P. Calabresi,
J. Calkwood,
C. Cordano,
Ardith Courtney,
Andrés Cruz-Herranz,
R. Diem,
Avril Daly,
H. Dollfus,
C. Fasser,
Carsten Finke,
J. Frederiksen,
E. Frohman,
T. Frohman,
E. Garcia-Martin,
I. Suárez,
G. Pihl-Jensen,
J. Graves,
Ari J. Green,
J. Havla,
B. Hemmer,
Su-Chun Huang,
J. Imitola,
Hong Jiang,
D. Keegan,
Eric J. Kildebeck,
A. Klistorner,
B. Knier,
S. Kolbe,
T. Korn,
B. Leroy,
L. Leocani,
D. Leroux,
N. Levin,
P. Lišková,
B. Lorenz,
J. Preiningerova,
E. Martinez-Lapiscina,
J. Mikolajczak,
X. Montalban,
M. Morrow,
R. Nolan,
T. Oberwahrenbrock,
F. C. Oertel,
C. Oreja-Guevara,
B. Osborne,
A. Papadopoulou,
M. Ringelstein,
S. Saidha,
B. Sánchez-Dalmau,
J. Sastre-Garriga,
Robert K Shin,
N. Shuey,
K. Soelberg,
A. Toosy,
R. Torres,
Á. Vidal-Jordana,
Amy T. Waldman,
O. White,
A. Yeh,
S. Wong,
H. Zimmermann
|
8 |
2017 |
8
🐜
|
|
🐜
|
International Classification of Retinopathy of Prematurity, Third Edition.
35 auth.
M. Chiang,
G. Quinn,
A. Fielder,
S. Ostmo,
R. V. Paul Chan,
A. Berrocal,
G. Binenbaum,
M. Blair,
J. Peter Campbell,
A. Capone,
Y. Chen,
S. Dai,
A. Ells,
B. Fleck,
W. Good,
...
M. Elizabeth Hartnett,
G. Holmstrom,
S. Kusaka,
A. Kychenthal,
D. Lepore,
B. Lorenz,
M. Martinez-Castellanos,
Ş. Özdek,
D. Ademola-Popoola,
J. Reynolds,
P. Shah,
M. Shapiro,
A. Stahl,
C. Toth,
A. Vinekar,
L. Visser,
D. Wallace,
Wei-Chi Wu,
Peiquan Zhao,
A. Zin
|
8 |
2021 |
8
🐜
|
|
🐜
|
Mutation spectrum and splicing variants in the OPA1 gene
9 auth.
C. Delettre,
J. Griffoin,
J. Kaplan,
H. Dollfus,
B. Lorenz,
L. Faivre,
...
G. Lenaers,
P. Belenguer,
C. Hamel
|
8 |
2001 |
8
🐜
|
|
🐜
|
Heterozygous mutations of OTX2 cause severe ocular malformations.
24 auth.
Nicola K. Ragge,
Nicola K. Ragge,
Nicola K. Ragge,
Alison G. Brown,
C. Poloschek,
B. Lorenz,
R. Henderson,
Michael P. Clarke,
I. Russell-Eggitt,
A. Fielder,
...
D. Gerrelli,
J. Martínez-Barbera,
P. Ruddle,
J. Hurst,
J. Collin,
Alison Salt,
Alison Salt,
S. T. Cooper,
P. Thompson,
S. Sisodiya,
K. Williamson,
D. FitzPatrick,
V. Heyningen,
I. Hanson
|
8 |
2005 |
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
🐜
|
|
🐜
|
Isolation of a candidate gene for Norrie disease by positional cloning
15 auth.
W. Berger,
A. Meindl,
T. Pol,
F. Cremers,
H. Ropers,
C. Döerner,
A. Monaco,
A. Bergen,
R. Lebo,
M. Warburg,
...
L. Zergollern,
B. Lorenz,
A. Gal,
E. Bleeker-Wagemakers,
T. Meitinger
|
7 |
1992 |
7
🐜
|
|
🐜
|
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
🐜
|
|
🐜
|
SOX2 anophthalmia syndrome
15 auth.
N. Ragge,
B. Lorenz,
A. Schneider,
K. Bushby,
L. De Sanctis,
U. de Sanctis,
A. Salt,
J. Collin,
A. Vivian,
S. Free,
...
P. Thompson,
K. Williamson,
S. Sisodiya,
V. van Heyningen,
D. FitzPatrick
|
7 |
2005 |
7
🐜
|
