Follow
Hans van Bokhoven
Hans van Bokhoven
Hoogleraar Radboudumc
Verified email at radboudumc.nl
Title
Cited by
Cited by
Year
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
8161999
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ...
Nature genetics 38 (8), 917-920, 2006
7912006
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
7682002
Isolation and identification of volatile kairomone that affects acarine predatorprey interactions Involvement of host plant in its production
M Dicke, TA Van Beek, MA Posthumus, N Ben Dom, H Van Bokhoven
Journal of chemical ecology 16 (2), 381-396, 1990
7461990
Common genetic variants influence human subcortical brain structures
DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivières, ...
Nature 520 (7546), 224-229, 2015
7072015
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
6182009
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ...
Journal of medical genetics 42 (12), 907-912, 2005
4282005
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ...
Human molecular genetics 10 (3), 221-230, 2001
4242001
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation
H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...
The American Journal of Human Genetics 69 (3), 481-492, 2001
3912001
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven
Annual review of genetics 45, 81-104, 2011
3902011
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
3822008
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
K Kutsche, H Yntema, A Brandt, I Jantke, H Gerd Nothwang, U Orth, ...
Nature genetics 26 (2), 247-250, 2000
3822000
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ...
The American Journal of Human Genetics 79 (2), 370-377, 2006
3682006
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ...
Human molecular genetics 11 (8), 981-991, 2002
3312002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
F Laumonnier, N Ronce, BCJ Hamel, P Thomas, J Lespinasse, ...
The American Journal of Human Genetics 71 (6), 1450-1455, 2002
3162002
p63-associated disorders
T Rinne, HG Brunner, H van Bokhoven
Cell cycle 6 (3), 262-268, 2007
3152007
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
H van Bokhoven, J Celli, H Kayserili, E van Beusekom, S Balci, W Brussel, ...
Nature genetics 25 (4), 423-426, 2000
2902000
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
AHDM Dam, I Koscinski, JAM Kremer, C Moutou, AS Jaeger, ...
The American Journal of Human Genetics 81 (4), 813-820, 2007
2872007
Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains
P Ghioni, F Bolognese, PHG Duijf, H Van Bokhoven, R Mantovani, ...
Molecular and cellular biology 22 (24), 8659-8668, 2002
2802002
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
LT Jae, M Raaben, M Riemersma, E Van Beusekom, VA Blomen, A Velds, ...
Science 340 (6131), 479-483, 2013
2782013
The system can't perform the operation now. Try again later.
Articles 1–20