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🐢
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base
F. Coppieters,
Steve Lefever,
B. Leroy,
E. de Baere
|
8 |
2010 |
8
🐢
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|
🐬
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
D. Bogaert,
M. Dullaers,
B. Lambrecht,
K. Vermaelen,
E. de Baere,
F. Haerynck
|
7 |
2016 |
7
🐬
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|
🐜
|
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
🐜
|
|
🐜
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Gender identity disorder in twins: a review of the case report literature.
8 auth.
G. Heylens,
G. De Cuypere,
K. Zucker,
Cleo Schelfaut,
E. Elaut,
Heidi Vanden Bossche,
...
E. de Baere,
G. T’Sjoen
|
7 |
2012 |
7
🐜
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|
🐜
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Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
69 auth.
O. Gorlova,
Jose-Ezequiel Martin,
B. Rueda,
B. Koeleman,
J. Ying,
M. Teruel,
L. Diaz-Gallo,
J. Broen,
M. Vonk,
C. Simeón,
B. Alizadeh,
M. Coenen,
A. Voskuyl,
A. Schuerwegh,
P. V. van Riel,
...
M. Vanthuyne,
Ruben H van 't Slot,
A. Italiaander,
R. Ophoff,
N. Hunzelmann,
V. Fonollosa,
N. Ortego-Centeno,
M. González-Gay,
F. García-Hernández,
M. González-Escribano,
P. Airó,
J. V. van Laar,
Jane Worthington,
R. Hesselstrand,
V. Smith,
F. de Keyser,
F. Houssiau,
M. M. Chee,
R. Madhok,
P. Shiels,
R. Westhovens,
A. Kreuter,
E. de Baere,
T. Witte,
L. Padyukov,
A. Nordin,
R. Scorza,
C. Lunardi,
B. Lie,
A. Hoffmann-Vold,
Ø. Palm,
P. García de la Peña,
P. Carreira,
J. Varga,
M. Hinchcliff,
Annette Lee,
P. Gourh,
C. Amos,
F. Wigley,
L. Hummers,
J. Nelson,
G. Riemekasten,
A. Herrick,
L. Beretta,
C. Fonseca,
C. Denton,
P. Gregersen,
S. Agarwal,
S. Assassi,
F. Tan,
F. Arnett,
T. Radstake,
M. Mayes,
Javier Martín
|
7 |
2011 |
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
🐜
|
|
🐜
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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
15 auth.
P. Krawitz,
Y. Murakami,
J. Hecht,
Ulrike Krüger,
S. Holder,
G. Mortier,
B. Delle Chiaie,
E. de Baere,
M. Thompson,
T. Roscioli,
...
S. Kiełbasa,
T. Kinoshita,
S. Mundlos,
P. Robinson,
D. Horn
|
7 |
2012 |
7
🐜
|
|
🐜
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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation
19 auth.
H. Van Gorp,
Pedro H. V. Saavedra,
N. D. de Vasconcelos,
N. Van Opdenbosch,
Lieselotte Vande Walle,
M. Matusiak,
G. Prencipe,
A. Insalaco,
F. Van Hauwermeiren,
D. Demon,
...
D. Bogaert,
M. Dullaers,
E. de Baere,
T. Hochepied,
J. Dehoorne,
K. Vermaelen,
F. Haerynck,
F. De Benedetti,
M. Lamkanfi
|
7 |
2016 |
7
🐜
|
|
🐢
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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
🐢
|
|
🐢
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
30 auth.
M. Bauwens,
A. Garanto,
R. Sangermano,
Sarah Naessens,
N. Weisschuh,
J. de Zaeytijd,
Mubeen Khan,
F. Sadler,
I. Balikova,
C. van Cauwenbergh,
Toon Rosseel,
Jim Bauwens,
K. De Leeneer,
S. De Jaegere,
Thalia Van Laethem,
...
Meindert De Vries,
K. Carss,
G. Arno,
A. Fakin,
A. Webster,
Thomy J. L. de Ravel de l’Argentière,
Y. Sznajer,
M. Vuylsteke,
S. Kohl,
B. Wissinger,
Timothy J. Cherry,
R. Collin,
F. Cremers,
B. Leroy,
E. de Baere
|
7 |
2019 |
7
🐢
|
|
🐜
|
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
29 auth.
A. Estrada-Cuzcano,
R. Koenekoop,
A. Sénéćhal,
E. de Baere,
T. de Ravel,
S. Banfi,
S. Kohl,
C. Ayuso,
D. Sharon,
C. Hoyng,
Christian P. Hamel,
B. Leroy,
C. Ziviello,
I. Lopez,
Alexandre Bazinet,
...
B. Wissinger,
I. Sliesoraityte,
A. Avila-Fernandez,
K. W. Littink,
E. Vingolo,
S. Signorini,
E. Banin,
L. Mizrahi‐Meissonnier,
E. Zrenner,
U. Kellner,
R. Collin,
A. D. den Hollander,
F. Cremers,
B. J. Klevering
|
6 |
2012 |
6
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