|
🐜
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
23 auth.
Marlinde L. van den Boogaard,
R. Lemmers,
J. Balog,
M. Wohlgemuth,
M. Auranen,
S. Mitsuhashi,
Patrick J van der Vliet,
K. Straasheijm,
Rob F. P. van den Akker,
M. Kriek,
...
Marlies E Y Laurense-Bik,
V. Raz,
Monique M. van Ostaijen-ten Dam,
K. Hansson,
E. L. van der Kooi,
S. Kiuru-Enari,
B. Udd,
M. V. van Tol,
I. Nishino,
R. Tawil,
S. Tapscott,
B. V. van Engelen,
S. M. van der Maarel
|
7 |
2016 |
7
🐜
|
|
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
22 auth.
W. Kloosterman,
Masoumeh Tavakoli-Yaraki,
M. V. van Roosmalen,
E. van Binsbergen,
I. Renkens,
K. Duran,
L. Ballarati,
S. Vergult,
D. Giardino,
K. Hansson,
...
C. Ruivenkamp,
M. Jager,
A. van Haeringen,
E. Ippel,
T. Haaf,
E. Passarge,
R. Hochstenbach,
B. Menten,
L. Larizza,
V. Guryev,
M. Poot,
E. Cuppen
|
7 |
2012 |
7
🐜
|
|
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Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
9 auth.
J. D. Greef,
M. Wohlgemuth,
O. Chan,
K. Hansson,
D. Smeets,
R. Frants,
...
C. Weemaes,
G. Padberg,
S. V. D. Maarel
|
6 |
2007 |
6
🐜
|
|
🐜
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Bannayan–Riley–Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases
12 auth.
Y. Hendriks,
Jacintha T C M Verhallen,
J. V. D. Smagt,
S. Kant,
Y. Hilhorst,
L. Hoefsloot,
...
K. Hansson,
P. V. D. Straaten,
H. Boutkan,
M. Breuning,
H. Vasen,
A. Bröcker-Vriends
|
6 |
2004 |
6
🐜
|
|
🐜
|
The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder
8 auth.
S. Rijn,
Lex Stockmann,
M. Borghgraef,
H. Bruining,
C. Ravenswaaij-Arts,
L. Govaerts,
...
K. Hansson,
H. Swaab
|
6 |
2014 |
6
🐜
|
|
🐜
|
The clinical spectrum of complete FBN1 allele deletions
13 auth.
Y. Hilhorst-Hofstee,
B. Hamel,
J. Verheij,
M. Rijlaarsdam,
G. Mancini,
J. Cobben,
C. Giroth,
C. Ruivenkamp,
K. Hansson,
J. Timmermans,
...
H. Moll,
M. Breuning,
G. Pals
|
6 |
2011 |
6
🐜
|
|
🐜
|
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients
20 auth.
H. M. van der Klift,
C. Tops,
E. Bik,
Merel W. Boogaard,
A. Borgstein,
K. Hansson,
M. Ausems,
E. García,
A. Green,
F. Hes,
...
L. Izatt,
L. V. van Hest,
Á. Alonso,
A. Vriends,
A. Wagner,
W. V. van Zelst-Stams,
H. Vasen,
H. Morreau,
P. Devilee,
J. Wijnen
|
5 |
2010 |
5
🐜
|
|
🐜
|
Tall stature and duplication of the insulin-like growth factor I receptor gene.
8 auth.
S. Kant,
M. Kriek,
M. Walenkamp,
K. Hansson,
A. V. Rhijn,
J. Clayton-Smith,
...
J. Wit,
M. Breuning
|
5 |
2007 |
5
🐜
|
|
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An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.
J. G. Dauwerse,
K. Hansson,
Ad Brouwers,
D. Peters,
M. Breuning
|
5 |
2006 |
5
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|
