Hans van Bokhoven Department of Human Genetics Radboud University Medical Center Biography Publications Institution JoVE Articles Hans van Bokhoven has not added a biography. If you are Hans van Bokhoven and would like to personalize this page please email our Author Liaison for assistance. Publications Identification of a De Novo Variant in CHUK in a Patient with an EEC/AEC Syndrome-like Phenotype and Hypogammaglobulinemia American Journal of Medical Genetics. Part A. May, 2017 | Pubmed ID: 28513979 Adaptive and Maladaptive Functioning in Kleefstra Syndrome Compared to Other Rare Genetic Disorders with Intellectual Disabilities American Journal of Medical Genetics. Part A. May, 2017 | Pubmed ID: 28498556 MicroRNA-338 Modulates Cortical Neuronal Placement and Polarity RNA Biology. May, 2017 | Pubmed ID: 28494198 Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families American Journal of Human Genetics. May, 2017 | Pubmed ID: 28457472 Altered Expression of Circadian Rhythm and Extracellular Matrix Genes in the Medial Prefrontal Cortex of a Valproic Acid Rat Model of Autism Progress in Neuro-psychopharmacology & Biological Psychiatry. Apr, 2017 | Pubmed ID: 28408291 Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development Cerebral Cortex (New York, N.Y. : 1991). Jan, 2017 | Pubmed ID: 28108491 Novel Genetic Loci Associated with Hippocampal Volume Nature Communications. Jan, 2017 | Pubmed ID: 28098162 Haploinsufficiency of EHMT1 Improves Pattern Separation and Increases Hippocampal Cell Proliferation Scientific Reports. Jan, 2017 | Pubmed ID: 28071689 Mutations in Two Large Pedigrees Highlight the Role of ZNF711 in X-linked Intellectual Disability Gene. Mar, 2017 | Pubmed ID: 27993705 MicroRNA-338 Attenuates Cortical Neuronal Outgrowth by Modulating the Expression of Axon Guidance Genes Molecular Neurobiology. Jul, 2017 | Pubmed ID: 27180071 The Schizophrenia Risk Gene MIR137 Acts As a Hippocampal Gene Network Node Orchestrating the Expression of Genes Relevant to Nervous System Development and Function Progress in Neuro-psychopharmacology & Biological Psychiatry. Feb, 2017 | Pubmed ID: 26925706 Euchromatin Histone Methyltransferase 1 Regulates Cortical Neuronal Network Development Scientific Reports. Oct, 2016 | Pubmed ID: 27767173 Novel Genetic Loci Underlying Human Intracranial Volume Identified Through Genome-wide Association Nature Neuroscience. Dec, 2016 | Pubmed ID: 27694991 Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling Neuron. Jul, 2016 | Pubmed ID: 27373831 Perinatal Reduction of Functional Serotonin Transporters Results in Developmental Delay Neuropharmacology. Oct, 2016 | Pubmed ID: 27208789 MicroRNA-181 Promotes Synaptogenesis and Attenuates Axonal Outgrowth in Cortical Neurons Cellular and Molecular Life Sciences : CMLS. Sep, 2016 | Pubmed ID: 27017280 Novel Mutations in LRP6 Highlight the Role of WNT Signaling in Tooth Agenesis Genetics in Medicine : Official Journal of the American College of Medical Genetics. Nov, 2016 | Pubmed ID: 26963285 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders American Journal of Human Genetics. Mar, 2016 | Pubmed ID: 26942287 Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK As a Cause of Limb Defects in Humans and Mice Genome Research. Feb, 2016 | Pubmed ID: 26755636 Missense Variants in AIMP1 Gene Are Implicated in Autosomal Recessive Intellectual Disability Without Neurodegeneration European Journal of Human Genetics : EJHG. Mar, 2016 | Pubmed ID: 26173967 Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation Chemistry & Biology. Dec, 2015 | Pubmed ID: 26687144 Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene Fetal and Pediatric Pathology. 2015 | Pubmed ID: 26470833 A De Novo Microdeletion in NRXN1 in a Dutch Patient with Mild Intellectual Disability, Microcephaly and Gonadal Dysgenesis Genetics Research. Oct, 2015 | Pubmed ID: 26438105 The Role of Chromatin Repressive Marks in Cognition and Disease: A Focus on the Repressive Complex GLP/G9a Neurobiology of Learning and Memory. Oct, 2015 | Pubmed ID: 26143996 MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and MGluR-Dependent LTD Cell Reports. Jun, 2015 | Pubmed ID: 26095359 De Novo Mutations in PLXND1 and REV3L Cause Möbius Syndrome Nature Communications. Jun, 2015 | Pubmed ID: 26068067 Transcription Factor P63 Bookmarks and Regulates Dynamic Enhancers During Epidermal Differentiation EMBO Reports. Jul, 2015 | Pubmed ID: 26034101 Absence of α- and β-dystroglycan is Associated with Walker-Warburg Syndrome Neurology. May, 2015 | Pubmed ID: 25934851 Gene Regulatory Mechanisms Orchestrated by P63 in Epithelial Development and Related Disorders Biochimica Et Biophysica Acta. Jun, 2015 | Pubmed ID: 25797018 Homozygous SLC6A17 Mutations Cause Autosomal-recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems American Journal of Human Genetics. Mar, 2015 | Pubmed ID: 25704603 Common Genetic Variants Influence Human Subcortical Brain Structures Nature. Apr, 2015 | Pubmed ID: 25607358 CLPB Mutations Cause 3-methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder American Journal of Human Genetics. Feb, 2015 | Pubmed ID: 25597510 Disease Mutations in CMP-sialic Acid Transporter SLC35A1 Result in Abnormal α-dystroglycan O-mannosylation, Independent from Sialic Acid Human Molecular Genetics. Apr, 2015 | Pubmed ID: 25552652 Variants in CUL4B Are Associated with Cerebral Malformations Human Mutation. Jan, 2015 | Pubmed ID: 25385192 De Novo Mutations in Beta-catenin (CTNNB1) Appear to Be a Frequent Cause of Intellectual Disability: Expanding the Mutational and Clinical Spectrum Human Genetics. Jan, 2015 | Pubmed ID: 25326669 Asymmetry Within and Around the Human Planum Temporale is Sexually Dimorphic and Influenced by Genes Involved in Steroid Hormone Receptor Activity Cortex; a Journal Devoted to the Study of the Nervous System and Behavior. Jan, 2015 | Pubmed ID: 25239853 Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability PloS One. 2014 | Pubmed ID: 25405613 Identifying Genes Responsible for Intellectual Disability in Consanguineous Families Human Heredity. 2014 | Pubmed ID: 25060278 Involvement of the Kinesin Family Members KIF4A and KIF5C in Intellectual Disability and Synaptic Function Journal of Medical Genetics. Jul, 2014 | Pubmed ID: 24812067 Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems American Journal of Human Genetics. May, 2014 | Pubmed ID: 24726472 A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype The Journal of Investigative Dermatology. Aug, 2014 | Pubmed ID: 24675753 Clinical Assessment of Five Patients with BRWD3 Mutation at Xq21.1 Gives Further Evidence for Mild to Moderate Intellectual Disability and Macrocephaly European Journal of Medical Genetics. Apr, 2014 | Pubmed ID: 24462886 An Etiologic Regulatory Mutation in IRF6 with Loss- and Gain-of-function Effects Human Molecular Genetics. May, 2014 | Pubmed ID: 24442519 A Complex Microcephaly Syndrome in a Pakistani Family Associated with a Novel Missense Mutation in RBBP8 and a Heterozygous Deletion in NRXN1 Gene. Mar, 2014 | Pubmed ID: 24440292 The Genetics of Cognitive Epigenetics Neuropharmacology. May, 2014 | Pubmed ID: 24434855 Reduced Euchromatin Histone Methyltransferase 1 Causes Developmental Delay, Hypotonia, and Cranial Abnormalities Associated with Increased Bone Gene Expression in Kleefstra Syndrome Mice Developmental Biology. Feb, 2014 | Pubmed ID: 24362066 Mutations in CSPP1 Lead to Classical Joubert Syndrome American Journal of Human Genetics. Jan, 2014 | Pubmed ID: 24360807 A 3-base Pair Deletion, C.9711_9713del, in DMD Results in Intellectual Disability Without Muscular Dystrophy European Journal of Human Genetics : EJHG. Apr, 2014 | Pubmed ID: 23900271 Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila PLoS Genetics. Oct, 2013 | Pubmed ID: 24204314 Genomic Approaches for Studying Craniofacial Disorders American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. Nov, 2013 | Pubmed ID: 24142857 Identification of Pathogenic Gene Variants in Small Families with Intellectually Disabled Siblings by Exome Sequencing Journal of Medical Genetics. Dec, 2013 | Pubmed ID: 24123876 Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23768512 GATAD2B Loss-of-function Mutations Cause a Recognisable Syndrome with Intellectual Disability and Are Associated with Learning Deficits and Synaptic Undergrowth in Drosophila Journal of Medical Genetics. Aug, 2013 | Pubmed ID: 23644463 Role of P63 and the Notch Pathway in Cochlea Development and Sensorineural Deafness Proceedings of the National Academy of Sciences of the United States of America. Apr, 2013 | Pubmed ID: 23589895 Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry Science (New York, N.Y.). Apr, 2013 | Pubmed ID: 23519211 A Novel Homozygous 10 Nucleotide Deletion in BBS10 Causes Bardet-Biedl Syndrome in a Pakistani Family Gene. Apr, 2013 | Pubmed ID: 23403234 Mutations in MED12 Cause X-linked Ohdo Syndrome American Journal of Human Genetics. Mar, 2013 | Pubmed ID: 23395478 Homozygous and Heterozygous Disruptions of ANK3: at the Crossroads of Neurodevelopmental and Psychiatric Disorders Human Molecular Genetics. May, 2013 | Pubmed ID: 23390136 Missense Mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) Cause Walker-Warburg Syndrome Human Molecular Genetics. May, 2013 | Pubmed ID: 23359570 Impaired Epithelial Differentiation of Induced Pluripotent Stem Cells from Ectodermal Dysplasia-related Patients is Rescued by the Small Compound APR-246/PRIMA-1MET Proceedings of the National Academy of Sciences of the United States of America. Feb, 2013 | Pubmed ID: 23355677 APR-246/PRIMA-1MET Rescues Epidermal Differentiation in Skin Keratinocytes Derived from EEC Syndrome Patients with P63 Mutations Proceedings of the National Academy of Sciences of the United States of America. Jan, 2013 | Pubmed ID: 23355676 A Compound Heterozygous Mutation in DPAGT1 Results in a Congenital Disorder of Glycosylation with a Relatively Mild Phenotype European Journal of Human Genetics : EJHG. Aug, 2013 | Pubmed ID: 23249953 Hippocampal Dysfunction in the Euchromatin Histone Methyltransferase 1 Heterozygous Knockout Mouse Model for Kleefstra Syndrome Human Molecular Genetics. Mar, 2013 | Pubmed ID: 23175442 P63 Control of Desmosome Gene Expression and Adhesion is Compromised in AEC Syndrome Human Molecular Genetics. Feb, 2013 | Pubmed ID: 23108156 Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23176823 Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-neural-crest Migration and Define a Recognizable Intellectual-disability Syndrome American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23159249 Interpretation of Clinical Relevance of X-chromosome Copy Number Variations Identified in a Large Cohort of Individuals with Cognitive Disorders And/or Congenital Anomalies European Journal of Medical Genetics. Nov, 2012 | Pubmed ID: 22796527 Disruption of an EHMT1-associated Chromatin-modification Module Causes Intellectual Disability American Journal of Human Genetics. Jul, 2012 | Pubmed ID: 22726846 Mutations in the Phospholipid Remodeling Gene SERAC1 Impair Mitochondrial Function and Intracellular Cholesterol Trafficking and Cause Dystonia and Deafness Nature Genetics. Jun, 2012 | Pubmed ID: 22683713 Mutations in ISPD Cause Walker-Warburg Syndrome and Defective Glycosylation of α-dystroglycan Nature Genetics. May, 2012 | Pubmed ID: 22522421 Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability Archives of Medical Research. May, 2012 | Pubmed ID: 22387573 Mutations in DYNC1H1 Cause Severe Intellectual Disability with Neuronal Migration Defects Journal of Medical Genetics. Mar, 2012 | Pubmed ID: 22368300 Mutant P63 Causes Defective Expansion of Ectodermal Progenitor Cells and Impaired FGF Signalling in AEC Syndrome EMBO Molecular Medicine. Jan, 2012 | Pubmed ID: 22247000 Phosphoribosylpyrophosphate Synthetase Superactivity and Recurrent Infections is Caused by a P.Val142Leu Mutation in PRS-I American Journal of Medical Genetics. Part A. Feb, 2012 | Pubmed ID: 22246954 Autosomal Recessive Dilated Cardiomyopathy Due to DOLK Mutations Results from Abnormal Dystroglycan O-mannosylation PLoS Genetics. Dec, 2011 | Pubmed ID: 22242004 A Novel Xp22.11 Deletion Causing a Syndrome of Craniosynostosis and Periventricular Nodular Heterotopia American Journal of Medical Genetics. Part A. Dec, 2011 | Pubmed ID: 22052819 Chromosome 1p21.3 Microdeletions Comprising DPYD and MIR137 Are Associated with Intellectual Disability Journal of Medical Genetics. Dec, 2011 | Pubmed ID: 22003227 Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice PLoS Genetics. Sep, 2011 | Pubmed ID: 21931569 Genetic and Epigenetic Networks in Intellectual Disabilities Annual Review of Genetics. 2011 | Pubmed ID: 21910631 TAp63 is Important for Cardiac Differentiation of Embryonic Stem Cells and Heart Development Stem Cells (Dayton, Ohio). Nov, 2011 | Pubmed ID: 21898690 Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice PLoS Genetics. Jul, 2011 | Pubmed ID: 21750680 Differential Altered Stability and Transcriptional Activity of ΔNp63 Mutants in Distinct Ectodermal Dysplasias Journal of Cell Science. Jul, 2011 | Pubmed ID: 21652629 A Novel Deletion Mutation in Proteoglycan-4 Underlies Camptodactyly-arthropathy-coxa-vara-pericarditis Syndrome in a Consanguineous Pakistani Family Archives of Medical Research. Feb, 2011 | Pubmed ID: 21565623 Characterization of a Novel Transcript of the EHMT1 Gene Reveals Important Diagnostic Implications for Kleefstra Syndrome Human Mutation. Jul, 2011 | Pubmed ID: 21538692 Mutations in the Pre-replication Complex Cause Meier-Gorlin Syndrome Nature Genetics. Apr, 2011 | Pubmed ID: 21358632 Homozygosity Mapping in Outbred Families with Mental Retardation European Journal of Human Genetics : EJHG. May, 2011 | Pubmed ID: 21248743 Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a PLoS Biology. 2011 | Pubmed ID: 21245904 Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication American Journal of Medical Genetics. Part A. Jan, 2011 | Pubmed ID: 21204209 UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients American Journal of Medical Genetics. Part A. Dec, 2010 | Pubmed ID: 21108393 A Novel Cerebello-ocular Syndrome with Abnormal Glycosylation Due to Abnormalities in Dolichol Metabolism Brain : a Journal of Neurology. Nov, 2010 | Pubmed ID: 20852264 Genome-wide Profiling of P63 DNA-binding Sites Identifies an Element That Regulates Gene Expression During Limb Development in the 7q21 SHFM1 Locus PLoS Genetics. Aug, 2010 | Pubmed ID: 20808887 Regulation of Vitamin Metabolism by P53 and P63 in Development and Cancer Cell Cycle (Georgetown, Tex.). Jul, 2010 | Pubmed ID: 20676025 SRD5A3 is Required for Converting Polyprenol to Dolichol and is Mutated in a Congenital Glycosylation Disorder Cell. Jul, 2010 | Pubmed ID: 20637498 CDK19 is Disrupted in a Female Patient with Bilateral Congenital Retinal Folds, Microcephaly and Mild Mental Retardation Human Genetics. Sep, 2010 | Pubmed ID: 20563892 Cooperation Between the Transcription Factors P63 and IRF6 is Essential to Prevent Cleft Palate in Mice The Journal of Clinical Investigation. May, 2010 | Pubmed ID: 20424327 PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment American Journal of Human Genetics. Apr, 2010 | Pubmed ID: 20380929 Embryonic Stem Cells As an Ectodermal Cellular Model of Human P63-related Dysplasia Syndromes Biochemical and Biophysical Research Communications. Apr, 2010 | Pubmed ID: 20361935 Disruption of the Epigenetic Code: an Emerging Mechanism in Mental Retardation Neurobiology of Disease. Jul, 2010 | Pubmed ID: 20304068 Recurrent Deletion of ZNF630 at Xp11.23 is Not Associated with Mental Retardation American Journal of Medical Genetics. Part A. Mar, 2010 | Pubmed ID: 20186789 Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome American Journal of Human Genetics. Feb, 2010 | Pubmed ID: 20137777 Identification of ANKRD11 and ZNF778 As Candidate Genes for Autism and Variable Cognitive Impairment in the Novel 16q24.3 Microdeletion Syndrome European Journal of Human Genetics : EJHG. Apr, 2010 | Pubmed ID: 19920853 WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome Developmental Dynamics : an Official Publication of the American Association of Anatomists. Jan, 2010 | Pubmed ID: 19918918 Reduced Exploration, Increased Anxiety, and Altered Social Behavior: Autistic-like Features of Euchromatin Histone Methyltransferase 1 Heterozygous Knockout Mice Behavioural Brain Research. Mar, 2010 | Pubmed ID: 19896504 Mutation Screening in 86 Known X-linked Mental Retardation Genes by Droplet-based Multiplex PCR and Massive Parallel Sequencing The HUGO Journal. Dec, 2009 | Pubmed ID: 21836662 Erratum To: Mutation Screening in 86 Known X-linked Mental Retardation Genes by Droplet-based Multiplex PCR and Massive Parallel Sequencing The HUGO Journal. Dec, 2009 | Pubmed ID: 20535404 OFD1 is Mutated in X-linked Joubert Syndrome and Interacts with LCA5-encoded Lebercilin American Journal of Human Genetics. Oct, 2009 | Pubmed ID: 19800048 A New Chromosome X Exon-specific Microarray Platform for Screening of Patients with X-linked Disorders The Journal of Molecular Diagnostics : JMD. Nov, 2009 | Pubmed ID: 19779134 Spectrum of P63 Mutations in a Selected Patient Cohort Affected with Ankyloblepharon-ectodermal Defects-cleft Lip/palate Syndrome (AEC) American Journal of Medical Genetics. Part A. Sep, 2009 | Pubmed ID: 19676060 Neurologic Aspects of MECP2 Gene Duplication in Male Patients Pediatric Neurology. Sep, 2009 | Pubmed ID: 19664534 Regulation of MYCN Expression in Human Neuroblastoma Cells BMC Cancer. 2009 | Pubmed ID: 19615087 A Systematic, Large-scale Resequencing Screen of X-chromosome Coding Exons in Mental Retardation Nature Genetics. May, 2009 | Pubmed ID: 19377476 Split Hand-foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-evidence for Further Heterogeneity? American Journal of Medical Genetics. Part A. May, 2009 | Pubmed ID: 19353584 SLC29A3 Gene is Mutated in Pigmented Hypertrichosis with Insulin-dependent Diabetes Mellitus Syndrome and Interacts with the Insulin Signaling Pathway Human Molecular Genetics. Jun, 2009 | Pubmed ID: 19336477 Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man with Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad Thorax American Journal of Medical Genetics. Part A. Feb, 2009 | Pubmed ID: 19291773 Characterization of Two Ectrodactyly-associated Translocation Breakpoints Separated by 2.5 Mb on Chromosome 2q14.1-q14.2 European Journal of Human Genetics : EJHG. Aug, 2009 | Pubmed ID: 19223936 Structural Variation in Xq28: MECP2 Duplications in 1% of Patients with Unexplained XLMR and in 2% of Male Patients with Severe Encephalopathy European Journal of Human Genetics : EJHG. Apr, 2009 | Pubmed ID: 18985075 Genetic and Epigenetic Defects in Mental Retardation The International Journal of Biochemistry & Cell Biology. Jan, 2009 | Pubmed ID: 18765296 Limb-mammary Syndrome (LMS) Associated with Internal Female Genitalia Dysgenesia: a New Genotype/phenotype Correlation? American Journal of Medical Genetics. Part A. Aug, 2008 | Pubmed ID: 18627043 Genotype-phenotype Correlations in MYCN-related Feingold Syndrome Human Mutation. Sep, 2008 | Pubmed ID: 18470948 MCT8 Mutation Analysis and Identification of the First Female with Allan-Herndon-Dudley Syndrome Due to Loss of MCT8 Expression European Journal of Human Genetics : EJHG. Sep, 2008 | Pubmed ID: 18398436 A Novel Translation Re-initiation Mechanism for the P63 Gene Revealed by Amino-terminal Truncating Mutations in Rapp-Hodgkin/Hay-Wells-like Syndromes Human Molecular Genetics. Jul, 2008 | Pubmed ID: 18364388 Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation American Journal of Human Genetics. Feb, 2008 | Pubmed ID: 18252223 Impaired Glycosylation and Cutis Laxa Caused by Mutations in the Vesicular H+-ATPase Subunit ATP6V0A2 Nature Genetics. Jan, 2008 | Pubmed ID: 18157129 End-stage Renal Failure, Reflux Nephropathy and Feingold's Syndrome Pediatric Nephrology (Berlin, Germany). Jan, 2008 | Pubmed ID: 17849152 Screening of 20 Patients with X-linked Mental Retardation Using Chromosome X-specific Array-MAPH European Journal of Medical Genetics. Nov-Dec, 2007 | Pubmed ID: 17980689 High-resolution Genomic Microarrays for X-linked Mental Retardation Genetics in Medicine : Official Journal of the American College of Medical Genetics. Sep, 2007 | Pubmed ID: 17873643 Homozygous Mutation in SPATA16 is Associated with Male Infertility in Human Globozoospermia American Journal of Human Genetics. Oct, 2007 | Pubmed ID: 17847006 Arts Syndrome is Caused by Loss-of-function Mutations in PRPS1 American Journal of Human Genetics. Sep, 2007 | Pubmed ID: 17701896 Intragenic Deletion in the LARGE Gene Causes Walker-Warburg Syndrome Human Genetics. Jul, 2007 | Pubmed ID: 17436019 EEC Syndrome, Arg227Gln TP63 Mutation and Micturition Difficulties: Is There a Genotype-phenotype Correlation? American Journal of Medical Genetics. Part A. May, 2007 | Pubmed ID: 17431922 Loss of SLC38A5 and FTSJ1 at Xp11.23 in Three Brothers with Non-syndromic Mental Retardation Due to a Microdeletion in an Unstable Genomic Region Human Genetics. Jun, 2007 | Pubmed ID: 17333282 P63-associated Disorders Cell Cycle (Georgetown, Tex.). Feb, 2007 | Pubmed ID: 17224651 Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium Human Mutation. Feb, 2007 | Pubmed ID: 17221867 Trismus-pseudocamptodactyly Syndrome is Caused by Recurrent Mutation of MYH8 American Journal of Medical Genetics. Part A. Nov, 2006 | Pubmed ID: 17041932 Refinement of the Locus for Hereditary Congenital Facial Palsy on Chromosome 3q21 in Two Unrelated Families and Screening of Positional Candidate Genes European Journal of Human Genetics : EJHG. Dec, 2006 | Pubmed ID: 16912702 Expanding the Clinical Spectrum of MYCN-related Feingold Syndrome American Journal of Medical Genetics. Part A. Oct, 2006 | Pubmed ID: 16906565 Holoprosencephaly and Preaxial Polydactyly Associated with a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1 Journal of Human Genetics. 2006 | Pubmed ID: 16865294 Mutations in the Gene Encoding the 3'-5' DNA Exonuclease TREX1 Cause Aicardi-Goutières Syndrome at the AGS1 Locus Nature Genetics. Aug, 2006 | Pubmed ID: 16845398 Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome American Journal of Human Genetics. Aug, 2006 | Pubmed ID: 16826531 Loss-of-function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome American Journal of Human Genetics. Aug, 2006 | Pubmed ID: 16826528 Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-transformed Lymphoblastoid Cell Lines and Fibroblasts Molecular Diagnosis & Therapy. 2006 | Pubmed ID: 16771605 Frequency of Genomic Rearrangements Involving the SHFM3 Locus at Chromosome 10q24 in Syndromic and Non-syndromic Split-hand/foot Malformation American Journal of Medical Genetics. Part A. Jul, 2006 | Pubmed ID: 16761290 Delineation of the ADULT Syndrome Phenotype Due to Arginine 298 Mutations of the P63 Gene European Journal of Human Genetics : EJHG. Aug, 2006 | Pubmed ID: 16724007 Pattern of P63 Mutations and Their Phenotypes--update American Journal of Medical Genetics. Part A. Jul, 2006 | Pubmed ID: 16691622 The Expanding Phenotype of POMT1 Mutations: from Walker-Warburg Syndrome to Congenital Muscular Dystrophy, Microcephaly, and Mental Retardation Human Mutation. May, 2006 | Pubmed ID: 16575835 Mutations in Different Components of FGF Signaling in LADD Syndrome Nature Genetics. Apr, 2006 | Pubmed ID: 16501574 Interstitial 2.2 Mb Deletion at 9q34 in a Patient with Mental Retardation but Without Classical Features of the 9q Subtelomeric Deletion Syndrome American Journal of Medical Genetics. Part A. Mar, 2006 | Pubmed ID: 16470689 ZNF674: a New Kruppel-associated Box-containing Zinc-finger Gene Involved in Nonsyndromic X-linked Mental Retardation American Journal of Human Genetics. Feb, 2006 | Pubmed ID: 16385466 Disruptions of the Novel KIAA1202 Gene Are Associated with X-linked Mental Retardation Human Genetics. Jan, 2006 | Pubmed ID: 16249884 Plexin D1 Expression is Induced on Tumor Vasculature and Tumor Cells: a Novel Target for Diagnosis and Therapy? Cancer Research. Sep, 2005 | Pubmed ID: 16166308 Nucleotide Variation Analysis Does Not Support a Causal Role for Plexin-A1 in Hereditary Congenital Facial Paresis Brain Research. Developmental Brain Research. Aug, 2005 | Pubmed ID: 15996756 Identifying New Candidate Genes for Hereditary Facial Paresis on Chromosome 3q21-q22 by RNA in Situ Hybridization in Mouse Genomics. Jul, 2005 | Pubmed ID: 15953540 Genotype-phenotype Studies in Nail-patella Syndrome Show That LMX1B Mutation Location is Involved in the Risk of Developing Nephropathy European Journal of Human Genetics : EJHG. Aug, 2005 | Pubmed ID: 15928687 Genetic Players in Esophageal Atresia and Tracheoesophageal Fistula Current Opinion in Genetics & Development. Jun, 2005 | Pubmed ID: 15917211 MYCN Haploinsufficiency is Associated with Reduced Brain Size and Intestinal Atresias in Feingold Syndrome Nature Genetics. May, 2005 | Pubmed ID: 15821734 Sequence Analysis of the PLEXIN-D1 Gene in Möbius Syndrome Patients Pediatric Neurology. Aug, 2004 | Pubmed ID: 15301830 Mutations in the FTSJ1 Gene Coding for a Novel S-adenosylmethionine-binding Protein Cause Nonsyndromic X-linked Mental Retardation American Journal of Human Genetics. Aug, 2004 | Pubmed ID: 15162322 Mutations in the Human TBX4 Gene Cause Small Patella Syndrome American Journal of Human Genetics. Jun, 2004 | Pubmed ID: 15106123 MECP2 Analysis in Mentally Retarded Patients: Implications for Routine DNA Diagnostics European Journal of Human Genetics : EJHG. Jan, 2004 | Pubmed ID: 14560307 Mutations in the Polyglutamine Binding Protein 1 Gene Cause X-linked Mental Retardation Nature Genetics. Dec, 2003 | Pubmed ID: 14634649 Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-linked Mental Retardation American Journal of Human Genetics. Dec, 2003 | Pubmed ID: 14628291 Feingold Syndrome: Clinical Review and Genetic Mapping American Journal of Medical Genetics. Part A. Nov, 2003 | Pubmed ID: 14518066 A Gene for Nonsyndromic X-linked Mental Retardation (MRX77) Maps to Xq12-Xq21.33 American Journal of Medical Genetics. Part A. Sep, 2003 | Pubmed ID: 12949971 Inv(X)(p21.1;q22.1) in a Man with Mental Retardation, Short Stature, General Muscle Wasting, and Facial Dysmorphism: Clinical Study and Mutation Analysis of the NXF5 Gene American Journal of Medical Genetics. Part A. Jun, 2003 | Pubmed ID: 12784308 Pathogenesis of Split-hand/split-foot Malformation Human Molecular Genetics. Apr, 2003 | Pubmed ID: 12668597 Complex Transcriptional Effects of P63 Isoforms: Identification of Novel Activation and Repression Domains Molecular and Cellular Biology. Dec, 2002 | Pubmed ID: 12446784 A C-terminal Inhibitory Domain Controls the Activity of P63 by an Intramolecular Mechanism Molecular and Cellular Biology. Dec, 2002 | Pubmed ID: 12446779 Transcription Factor SOX3 is Involved in X-linked Mental Retardation with Growth Hormone Deficiency American Journal of Human Genetics. Dec, 2002 | Pubmed ID: 12428212 PLEXIN-D1, a Novel Plexin Family Member, is Expressed in Vascular Endothelium and the Central Nervous System During Mouse Embryogenesis Developmental Dynamics : an Official Publication of the American Association of Anatomists. Nov, 2002 | Pubmed ID: 12412018 Mutations in the O-mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome American Journal of Human Genetics. Nov, 2002 | Pubmed ID: 12369018 Expanding Phenotype of XNP Mutations: Mild to Moderate Mental Retardation American Journal of Medical Genetics. Jul, 2002 | Pubmed ID: 12116232 Localization of a Gene for Nonspecific X-linked Mental Retardation (MRX 76) to Xp22.3-Xp21.3 American Journal of Medical Genetics. Jul, 2002 | Pubmed ID: 12116222 Low Frequency of MECP2 Mutations in Mentally Retarded Males European Journal of Human Genetics : EJHG. Aug, 2002 | Pubmed ID: 12111644 Splitting P63 American Journal of Human Genetics. Jul, 2002 | Pubmed ID: 12037717 ARX, a Novel Prd-class-homeobox Gene Highly Expressed in the Telencephalon, is Mutated in X-linked Mental Retardation Human Molecular Genetics. Apr, 2002 | Pubmed ID: 11971879 Gain-of-function Mutation in ADULT Syndrome Reveals the Presence of a Second Transactivation Domain in P63 Human Molecular Genetics. Apr, 2002 | Pubmed ID: 11929852 Mutations in the P53 Homolog P63: Allele-specific Developmental Syndromes in Humans Trends in Molecular Medicine. Mar, 2002 | Pubmed ID: 11879774 Evidence for Genetic Heterogeneity in Familial Isolated Patella Aplasia-hypoplasia American Journal of Medical Genetics. Feb, 2002 | Pubmed ID: 11857555 In-frame Deletion in MECP2 Causes Mild Nonspecific Mental Retardation American Journal of Medical Genetics. Jan, 2002 | Pubmed ID: 11807877 Drosophila Courtship Conditioning As a Measure of Learning and Memory Tom S. Koemans1,2,3, Cornelia Oppitz4, Rogier A. T. Donders5, Hans van Bokhoven1,3, Annette Schenck1,3, Krystyna Keleman6, Jamie M. Kramer7,8 1Department of Human Genetics, Radboud University Medical Center, 2Radboud Institute of Molecular Life Sciences, Radboud University, 3Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Radboud University, 4Research Institute of Molecular Pathology, Vienna, Austria, 5Department for Health Evidence, Radboud University Medical Center, 6Janelia Research Campus, Howard Hughes Medical Institute, 7Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, 8Department of Biology, Faculty of Science, Western University JoVE 55808 Neuroscienze
Drosophila Courtship Conditioning As a Measure of Learning and Memory Tom S. Koemans1,2,3, Cornelia Oppitz4, Rogier A. T. Donders5, Hans van Bokhoven1,3, Annette Schenck1,3, Krystyna Keleman6, Jamie M. Kramer7,8 1Department of Human Genetics, Radboud University Medical Center, 2Radboud Institute of Molecular Life Sciences, Radboud University, 3Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Radboud University, 4Research Institute of Molecular Pathology, Vienna, Austria, 5Department for Health Evidence, Radboud University Medical Center, 6Janelia Research Campus, Howard Hughes Medical Institute, 7Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, 8Department of Biology, Faculty of Science, Western University JoVE 55808 Neuroscienze