H van Bokhoven
Overview
Explore the profile of H van Bokhoven including associated specialties, affiliations and a list of published articles.
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Articles
86
Citations
3085
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Recent Articles
1.
Polla D, Bhoj E, Verheij J, Klein Wassink-Ruiter J, Reis A, Deshpande C, et al.
Genet Med
. 2020 Nov;
23(4):645-652.
PMID: 33244165
Purpose: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie...
2.
Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla D, Song Y, et al.
Mol Psychiatry
. 2018 Sep;
25(11):3101-3102.
PMID: 30171209
This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the...
3.
Mehmood S, Raza S, van Bokhoven H, Ahmad W
Clin Exp Dermatol
. 2017 May;
42(5):585-589.
PMID: 28543635
No abstract available.
4.
Khandelwal K, Ishorst N, Zhou H, Ludwig K, Venselaar H, Gilissen C, et al.
J Dent Res
. 2016 Nov;
96(2):179-185.
PMID: 27834299
Common variants in interferon regulatory factor 6 ( IRF6) have been associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) as well as with tooth agenesis (TA). These...
5.
Phan M, Conte F, Khandelwal K, Ockeloen C, Bartzela T, Kleefstra T, et al.
Hum Genet
. 2016 Oct;
135(12):1299-1327.
PMID: 27699475
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic...
6.
Palmer E, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, et al.
Mol Psychiatry
. 2016 Aug;
23(2):222-230.
PMID: 27550844
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on...
7.
Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla D, Song Y, et al.
Mol Psychiatry
. 2016 Jul;
22(11):1604-1614.
PMID: 27457812
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of...
8.
Kroeze Y, Peeters D, Boulle F, van den Hove D, van Bokhoven H, Zhou H, et al.
Transl Psychiatry
. 2016 Apr;
6:e779.
PMID: 27070407
No abstract available.
9.
Ba W, Selten M, van der Raadt J, van Veen H, Li L, Benevento M, et al.
Cell Rep
. 2016 Feb;
14(6):1355-1368.
PMID: 26854232
The molecular mechanisms that promote excitatory synapse development have been extensively studied. However, the molecular events preventing precocious excitatory synapse development so that synapses form at the correct time and...
10.
Kroeze Y, Peeters D, Boulle F, Pawluski J, van den Hove D, van Bokhoven H, et al.
Transl Psychiatry
. 2015 Sep;
5:e642.
PMID: 26393488
The selective serotonin reuptake inhibitor (SSRI) fluoxetine is widely prescribed for the treatment of symptoms related to a variety of psychiatric disorders. After chronic SSRI treatment, some symptoms remediate on...