|
🐜
|
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
🐜
|
|
🐜
|
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
36 auth.
T. Eisenberger,
C. Neuhaus,
Arif O. Khan,
C. Decker,
M. Preising,
C. Friedburg,
A. Bieg,
M. Gliem,
P. C. Issa,
F. Holz,
S. Baig,
Y. Hellenbroich,
A. Galvez,
K. Platzer,
B. Wollnik,
...
N. Laddach,
S. Ghaffari,
M. Rafati,
E. Botzenhart,
S. Tinschert,
Doris Börger,
A. Bohring,
J. Schreml,
S. Körtge-Jung,
C. Schell-Apacik,
Khadijah H Bakur,
J. Al-Aama,
T. Neuhann,
P. Herkenrath,
G. Nürnberg,
P. Nürnberg,
John S. Davis,
A. Gal,
C. Bergmann,
B. Lorenz,
H. Bolz
|
7 |
2013 |
7
🐜
|
|
🐜
|
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
12 auth.
J. Zernant,
M. Külm,
S. Dharmaraj,
A. D. den Hollander,
I. Perrault,
M. Preising,
...
B. Lorenz,
J. Kaplan,
F. Cremers,
I. Maumenee,
R. Koenekoop,
R. Allikmets
|
7 |
2003 |
7
🐜
|
|
🐢
|
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.
B. Lorenz,
B. Wabbels,
E. Wegscheider,
C. Hamel,
W. Drexler,
M. Preising
|
7 |
2004 |
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
🐜
|
|
🐬
|
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations
K. Paunescu,
B. Wabbels,
M. Preising,
B. Lorenz
|
6 |
2005 |
6
🐬
|
|
🐜
|
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
22 auth.
D. Chung,
Mette Bertelsen,
B. Lorenz,
M. Pennesi,
B. Leroy,
C. Hamel,
E. Pierce,
J. Sallum,
M. Larsen,
K. Stieger,
...
M. Preising,
R. Weleber,
Paul Yang,
E. Place,
Emily Liu,
G. Schaefer,
Julie DiStefano-Pappas,
O. Elci,
Sarah Mccague,
J. Wellman,
K. High,
K. Reape
|
6 |
2019 |
6
🐜
|
|
🐬
|
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype–phenotype correlation
C. Gerth,
M. Andrassi-Darida,
M. Bock,
M. Preising,
B. Weber,
B. Lorenz
|
6 |
2002 |
6
🐬
|
|
🐬
|
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
B. Lorenz,
E. Poliakov,
Maria Schambeck,
C. Friedburg,
M. Preising,
T Michael Redmond
|
6 |
2008 |
6
🐬
|
|
🐬
|
Fundus autofluorescence in children and teenagers with hereditary retinal diseases
B. Wabbels,
Anke Demmler,
K. Paunescu,
E. Wegscheider,
M. Preising,
B. Lorenz
|
6 |
2005 |
6
🐬
|
