|
🐜
|
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
15 auth.
S. Kohl,
F. Coppieters,
F. Meire,
Simone Schaich,
S. Roosing,
Christina Brennenstuhl,
S. Bolz,
M. V. van Genderen,
F. Riemslag,
R. Lukowski,
...
A. D. den Hollander,
F. Cremers,
E. de Baere,
C. Hoyng,
B. Wissinger
|
7 |
2012 |
7
🐜
|
|
🐜
|
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
13 auth.
V. Kitiratschky,
Tanja Grau,
A. Bernd,
E. Zrenner,
H. Jägle,
A. Renner,
U. Kellner,
G. Rudolph,
S. Jacobson,
A. Cideciyan,
...
Simone Schaich,
S. Kohl,
B. Wissinger
|
5 |
2008 |
5
🐜
|
|
🐜
|
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
27 auth.
B. Wissinger,
Simone Schaich,
Britta Baumann,
M. Bonin,
H. Jägle,
C. Friedburg,
B. Varsányi,
C. Hoyng,
H. Dollfus,
J. Heckenlively,
T. Rosenberg,
G. Rudolph,
U. Kellner,
R. Salati,
A. Plomp,
...
E. de Baere,
M. Andrassi-Darida,
A. Sauer,
C. Wolf,
D. Zobor,
A. Bernd,
B. Leroy,
P. Enyedi,
F. Cremers,
B. Lorenz,
E. Zrenner,
S. Kohl
|
5 |
2011 |
5
🐜
|
|
🐬
|
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons
S. Schimpf,
N. Fuhrmann,
Simone Schaich,
B. Wissinger
|
5 |
2008 |
5
🐬
|
|
🐜
|
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
25 auth.
V. Carelli,
S. Schimpf,
N. Fuhrmann,
M. Valentino,
C. Zanna,
L. Iommarini,
M. Papke,
Simone Schaich,
S. Tippmann,
Britta Baumann,
P. Barboni,
L. Longanesi,
M. Rugolo,
A. Ghelli,
M. Alavi,
...
R. Youle,
L. Bucchi,
R. Carroccia,
M. P. Giannoccaro,
C. Tonon,
R. Lodi,
G. Cenacchi,
P. Montagna,
R. Liguori,
B. Wissinger
|
5 |
2011 |
5
🐜
|
|
🐬
|
Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
S. Kohl,
V. Kitiratschky,
M. Papke,
Simone Schaich,
A. Sauer,
B. Wissinger
|
4 |
2012 |
4
🐬
|
|
🐬
|
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
S. Schimpf,
Simone Schaich,
B. Wissinger
|
4 |
2006 |
4
🐬
|
|
🐜
|
Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16
19 auth.
V. Carelli,
S. Schimpf,
M. Valentino,
N. Fuhrmann,
M. Papke,
Simone Schaich,
S. Tippmann,
Britta Baumann,
P. Barboni,
A. Ghelli,
...
L. Bucchi,
R. Lodi,
B. Barbiroli,
R. Liguori,
R. Carroccia,
M. Villanova,
P. Montagna,
A. Baruzzi,
B. Wissinger
|
2 |
2007 |
2
🐜
|
