|
🐜
|
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
19 auth.
R. Varon,
C. Vissinga,
M. Platzer,
K. Cerosaletti,
K. Chrzanowska,
K. Saar,
G. Beckmann,
E. Seemanová,
P. R. Cooper,
N. Nowak,
...
M. Stumm,
C. Weemaes,
R. Gatti,
R. Wilson,
M. Digweed,
A. Rosenthal,
K. Sperling,
P. Concannon,
A. Reis
|
10 |
1998 |
10
🐜
|
|
🐜
|
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
7 auth.
Hansen Rs,
C. Wijmenga,
P. Luo,
A. Stanek,
T. Canfield,
C. Weemaes,
...
S. Gartler
|
9 |
1999 |
9
🐜
|
|
🦁
|
A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME
C. Weemaes,
T. Hustinx,
J. Scheres,
P. Munster,
J. Bakkeren,
R. Taalman
|
8 |
1981 |
8
🦁
|
|
🐜
|
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
🐜
|
|
🐜
|
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
8 auth.
Nielsen Os,
N. Roeleveld,
C. Weemaes,
M. Jongmans,
G. Janssens,
A. Taylor,
...
N. Hoogerbrugge,
M. Willemsen
|
7 |
2016 |
7
🐜
|
|
🐜
|
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study
33 auth.
M. Verhagen,
J. Last,
F. Hogervorst,
D. Smeets,
N. Roeleveld,
F. Verheijen,
C. Catsman-Berrevoets,
N. Wulffraat,
J. Cobben,
J. Hiel,
E. Brunt,
E. Peeters,
E. G. Gómez Garcia,
M. S. van der Knaap,
C. Lincke,
...
L. Laan,
M. Tijssen,
M. V. van Rijn,
D. Majoor-Krakauer,
M. Visser,
Laura J. van ‘t Veer,
W. Kleijer,
Bart P. C. van de Warrenburg,
A. Warris,
I. D. de Groot,
R. de Groot,
A. Broeks,
F. Preijers,
B. Kremer,
C. Weemaes,
Malcolm A.R. Taylor,
M. van Deuren,
M. Willemsen
|
7 |
2012 |
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
🐜
|
|
🐜
|
Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
7 auth.
T. Sprong,
D. Roos,
C. Weemaes,
C. Neeleman,
Christel L. M. Geesing,
T. Mollnes,
...
M. van Deuren
|
7 |
2006 |
7
🐜
|
|
🐜
|
The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes
13 auth.
R. Janssen,
Annelies van Wengen,
Marieke A. Hoeve,
Monique ten Dam,
M. van der Burg,
J. V. van Dongen,
E. van de Vosse,
M. V. van Tol,
R. Bredius,
T. Ottenhoff,
...
C. Weemaes,
J. V. van Dissel,
A. Lankester
|
7 |
2004 |
7
🐜
|
|
🐢
|
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
25 auth.
M. Hagleitner,
A. Lankester,
P. Maraschio,
Maj Hultén,
J. Fryns,
C. Schuetz,
G. Gimelli,
E. Davies,
A. Gennery,
B. Belohradsky,
R. Groot,
E. Gerritsen,
T. Mattina,
P. Howard,
A. Fasth,
...
I. Reisli,
D. Furthner,
M. Slatter,
A. Cant,
G. Cazzola,
P. Dijken,
M. Deuren,
J. D. Greef,
S. V. D. Maarel,
C. Weemaes
|
7 |
2007 |
7
🐢
|
|
🐜
|
Chromosome instability syndromes
11 auth.
A. Taylor,
C. Rothblum-Oviatt,
N. Ellis,
I. Hickson,
Stefan Meyer,
S. Meyer,
...
T. Crawford,
A. Smogorzewska,
B. Pietrucha,
C. Weemaes,
G. Stewart
|
6 |
2018 |
6
🐜
|
