متابعة
Hans van Bokhoven
Hans van Bokhoven
Hoogleraar Radboudumc
بريد إلكتروني تم التحقق منه على radboudumc.nl
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières 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
9252006
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
8551999
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
8352015
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
7932002
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, 381-396, 1990
7891990
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
6812009
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
4622005
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven
Annual review of genetics 45, 81-104, 2011
4582011
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
4582001
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
4272006
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
4202001
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
4152008
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
4062000
p63-associated disorders
T Rinne, HG Brunner, H van Bokhoven
Cell cycle 6 (3), 262-268, 2007
3542007
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
3502002
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
3422002
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
3362007
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
3222000
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
3082010
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
3052016
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مقالات 1–20