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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
30 auth.
R. Lemmers,
R. Tawil,
Lisa M. Petek,
J. Balog,
Gregory J. Block,
G. Santen,
Amanda M. Amell,
Patrick J van der Vliet,
R. Almomani,
K. Straasheijm,
Y. Krom,
R. Klooster,
Yu Sun,
J. D. den Dunnen,
Q. Helmer,
...
C. Donlin-Smith,
G. Padberg,
B. V. van Engelen,
Jessica C. de Greef,
Annemieke Aartsma-Rus,
R. Frants,
M. de Visser,
C. Desnuelle,
S. Sacconi,
G. Filippova,
B. Bakker,
M. Bamshad,
S. Tapscott,
Daniel G. Miller,
S. M. van der Maarel
|
9 |
2012 |
9
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|
|
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Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
18 auth.
Weihua Zeng,
Jessica C. de Greef,
Yen‐yun Chen,
R. Chien,
Xiangduo Kong,
H. C. Gregson,
S. Winokur,
A. Pyle,
K. Robertson,
John A. Schmiesing,
...
V. Kimonis,
J. Balog,
R. Frants,
A. Ball,
L. Lock,
P. Donovan,
S. M. van der Maarel,
K. Yokomori
|
8 |
2009 |
8
🐜
|
|
🦁
|
Common epigenetic changes of D4Z4 in contraction‐dependent and contraction‐independent FSHD
8 auth.
Jessica C. de Greef,
R. Lemmers,
B. V. Van Engelen,
S. Sacconi,
S. Venance,
R. Frants,
...
R. Tawil,
S. M. van der Maarel
|
7 |
2009 |
7
🦁
|
|
🦁
|
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
25 auth.
Jessica C. de Greef,
Jun Wang,
J. Balog,
J. D. den Dunnen,
R. Frants,
K. Straasheijm,
C. Aytekin,
M. van der Burg,
L. Duprez,
A. Ferster,
A. Gennery,
G. Gimelli,
I. Reisli,
C. Schuetz,
A. Schulz,
...
D. Smeets,
Y. Sznajer,
C. Wijmenga,
M. van Eggermond,
Monique M. van Ostaijen-ten Dam,
A. Lankester,
M. V. van Tol,
P. J. van den Elsen,
C. Weemaes,
S. M. van der Maarel
|
7 |
2011 |
7
🦁
|
|
🐜
|
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
29 auth.
P. E. Thijssen,
Y. Ito,
Giacomo Grillo,
Jun Wang,
Guillaume Velasco,
Hirohisa Nitta,
Motoko Unoki,
Minako Yoshihara,
M. Suyama,
Yu Sun,
R. Lemmers,
Jessica C. de Greef,
A. Gennery,
P. Picco,
B. Kloeckener‐Gruissem,
...
T. Güngör,
I. Reisli,
C. Picard,
K. Kébaili,
B. Roquelaure,
T. Iwai,
Ikuko Kondo,
T. Kubota,
Monique M. van Ostaijen-ten Dam,
M. V. van Tol,
C. Weemaes,
C. Francastel,
S. M. van der Maarel,
H. Sasaki
|
7 |
2015 |
7
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|
|
🐜
|
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
29 auth.
P. E. Thijssen,
Y. Ito,
Giacomo Grillo,
Jun Wang,
Guillaume Velasco,
Hirohisa Nitta,
Motoko Unoki,
Minako Yoshihara,
M. Suyama,
Yu Sun,
R. Lemmers,
Jessica C. de Greef,
A. Gennery,
P. Picco,
B. Kloeckener‐Gruissem,
...
T. Güngör,
I. Reisli,
C. Picard,
K. Kébaili,
B. Roquelaure,
T. Iwai,
Ikuko Kondo,
T. Kubota,
Monique M. van Ostaijen-ten Dam,
M. V. van Tol,
C. Weemaes,
C. Francastel,
S. M. van der Maarel,
H. Sasaki
|
6 |
2016 |
6
🐜
|
|
🐜
|
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
9 auth.
S. Sacconi,
P. Camaño,
Jessica C. de Greef,
R. Lemmers,
L. Salviati,
P. Boileau,
...
Adolfo López de Munaín Arregui,
S. M. van der Maarel,
C. Desnuelle
|
5 |
2011 |
5
🐜
|
|
🐜
|
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
9 auth.
J. Balog,
P. E. Thijssen,
Jessica C. de Greef,
Bharati Shah,
B. V. Van Engelen,
K. Yokomori,
...
S. Tapscott,
R. Tawil,
S. M. van der Maarel
|
5 |
2012 |
5
🐜
|
|
🦁
|
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
Jessica C. de Greef,
R. Frants,
S. M. van der Maarel
|
5 |
2008 |
5
🦁
|
|
🐬
|
Mouse models for muscular dystrophies: an overview
M. van Putten,
E. Lloyd,
Jessica C. de Greef,
V. Raz,
R. Willmann,
M. Grounds
|
5 |
2020 |
5
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|
