|
🐜
|
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
27 auth.
E. Baere,
M. Dixon,
Kent W. Small,
E. Jabs,
B. Leroy,
K. Devriendt,
Y. Gillerot,
G. Mortier,
F. Meire,
L. Maldergem,
W. Courtens,
H. Hjalgrim,
Shangzhi Huang,
I. Liebaers,
N. Regemorter,
...
P. Touraine,
V. Praphanphoj,
A. Verloes,
N. Udar,
V. Yellore,
Meenal Chalukya,
S. Yelchits,
A. Paepe,
F. Kuttenn,
M. Fellous,
R. Veitia,
L. Messiaen
|
8 |
2001 |
8
🐜
|
|
🐜
|
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
11 auth.
M. V. van Genderen,
Mieke M. C. Bijveld,
Y. Claassen,
R. Florijn,
J. Pearring,
F. Meire,
...
M. McCall,
F. Riemslag,
R. Gregg,
A. Bergen,
M. Kamermans
|
7 |
2009 |
7
🐜
|
|
🐬
|
Low vision affects dynamic stability of gait.
A. Hallemans,
E. Ortibus,
F. Meire,
P. Aerts
|
7 |
2010 |
7
🐬
|
|
🐜
|
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
8 auth.
I. Hanson,
A. Churchill,
James Love,
R. Axton,
T. Moore,
Michael P. Clarke,
...
F. Meire,
V. Heyningen
|
7 |
1999 |
7
🐜
|
|
🐜
|
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
14 auth.
M. Sohocki,
I. Perrault,
B. Leroy,
B. Leroy,
A. Payne,
S. Dharmaraj,
S. Bhattacharya,
J. Kaplan,
I. Maumenee,
R. Koenekoop,
...
F. Meire,
D. Birch,
J. Heckenlively,
S. Daiger
|
7 |
2000 |
7
🐜
|
|
🐜
|
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
🐜
|
|
🐜
|
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
13 auth.
C. Zeitz,
M. V. van Genderen,
J. Neidhardt,
U. Luhmann,
F. Hoeben,
U. Forster,
K. Wycisk,
G. Mátyás,
C. Hoyng,
F. Riemslag,
...
F. Meire,
F. Cremers,
W. Berger
|
7 |
2005 |
7
🐜
|
|
🐜
|
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
19 auth.
F. Coppieters,
I. Casteels,
F. Meire,
S. De Jaegere,
S. Hooghe,
N. van Regemorter,
H. Van Esch,
A. Matulevičienė,
L. Nunes,
V. Meersschaut,
...
S. Walraedt,
L. Standaert,
P. Coucke,
H. Hoeben,
H. Kroes,
J. Vande Walle,
T. de Ravel,
B. Leroy,
E. de Baere
|
7 |
2010 |
7
🐜
|
|
🐜
|
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
8 auth.
J. Désir,
G. Moya,
O. Reish,
N. van Regemorter,
H. Deconinck,
K. David,
...
F. Meire,
M. Abramowicz
|
6 |
2007 |
6
🐜
|
|
🐜
|
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
🐜
|
