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Lista de obras de Hans van Bokhoven

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

artículo científico publicado en 2003

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism

artículo científico publicado en 2002

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

artículo científico publicado en 2014

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

artículo científico publicado en 2012

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

artículo científico publicado en 2015

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

artículo científico publicado en 2003

A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.

artículo científico publicado en 2014

A high-resolution interval map of the q21 region of the human X chromosome

scientific article published on 01 June 1995

A highly polymorphic microsatellite marker located within the choroideremia gene

scientific article published on 01 September 1996

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

artículo científico publicado en 2010

A mutation in TP63 causing a mild ectodermal dysplasia phenotype.

artículo científico publicado en 2014

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

artículo científico publicado en 2009

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

scientific article published on 03 November 2011

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

artículo científico publicado en 2010

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

artículo científico publicado en 2011

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

artículo científico publicado en 2008

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

artículo científico publicado en 2005

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

artículo científico publicado en 2013

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

artículo científico publicado en 2016

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

artículo científico publicado en 2002

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

artículo científico publicado en 2015

Altered expression of circadian rhythm and extracellular matrix genes in the medial prefrontal cortex of a valproic acid rat model of autism

artículo científico

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

artículo científico publicado en 2014

Arts syndrome is caused by loss-of-function mutations in PRPS1

artículo científico publicado en 2007

Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization ⬇️

artículo científico publicado el 1 de enero de 1997

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

artículo científico publicado en 2017

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

artículo científico publicado en 2010

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

artículo científico publicado en 2009

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

artículo científico publicado en 2005

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

artículo científico publicado en 2011

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene

artículo científico publicado en 2015

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

artículo científico publicado en 2014

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

artículo científico publicado en 2006

Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains

artículo científico publicado en 2002

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.

artículo científico publicado en 2010

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

artículo científico publicado en 2002

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

artículo científico publicado en 2013

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

artículo científico publicado en 2019

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

artículo científico publicado en 2010

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

article

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

artículo científico publicado en 2011

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

artículo científico publicado en 2014

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

artículo científico publicado en 2012

Disruption of the epigenetic code: an emerging mechanism in mental retardation

artículo científico publicado en 2010

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

artículo científico publicado en 2005

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

artículo científico publicado en 2009

Drosophila Courtship Conditioning As a Measure of Learning and Memory

artículo científico publicado en 2017

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

artículo científico publicado en 2017

EEC syndrome, Arg227GlnTP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

scientific article published on 01 May 2007

Elevated microRNA-181c and microRNA-30d levels in the enlarged amygdala of the valproic acid rat model of autism

artículo científico publicado en 2015

Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes

scientific article published on 30 March 2010

End-stage renal failure, reflux nephropathy and Feingold's syndrome

artículo científico publicado en 2007

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

artículo científico publicado en 2011

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

artículo científico publicado en 2009

Euchromatin histone methyltransferase 1 regulates cortical neuronal network development

artículo científico publicado en 2016

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

artículo científico publicado en 2002

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

artículo científico publicado en 2016

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

artículo científico publicado en 2014

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

artículo científico publicado en 2012

Expanding the clinical spectrum of MYCN-related Feingold syndrome

artículo científico publicado en 2006

Familial syndromic esophageal atresia maps to 2p23-p24.

artículo científico publicado en 2000

Feingold syndrome: clinical review and genetic mapping

artículo científico publicado en 2003

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

artículo científico publicado en 2006

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

artículo científico publicado en 2017

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

artículo científico publicado en 2002

Gene regulatory mechanisms orchestrated by p63 in epithelial development and related disorders.

artículo científico

Genetic and epigenetic defects in mental retardation.

artículo científico publicado en 2008

Genetic and epigenetic networks in intellectual disabilities.

artículo científico publicado en 2011

Genetic players in esophageal atresia and tracheoesophageal fistula

artículo científico publicado en 2005

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

artículo científico publicado en 2010

Genomic approaches for studying craniofacial disorders

artículo científico publicado en 2013

Genotype-phenotype correlations in MYCN-related Feingold syndrome

artículo científico publicado en 2008

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

artículo científico publicado en 2005

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

artículo científico publicado en 2017

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

artículo científico publicado en 1999

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

artículo científico publicado en 2011

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

artículo científico publicado en 2004

High-resolution genomic microarrays for X-linked mental retardation.

artículo científico publicado en 2007

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

artículo científico publicado en 2012

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

artículo científico publicado en 2016

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

artículo científico publicado en 2006

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

artículo científico publicado en 2017

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

artículo científico publicado en 2007

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

artículo científico publicado en 2015

Human intellectual disability genes form conserved functional modules in Drosophila.

artículo científico publicado en 2013

Human syndromes with congenital patellar anomalies and the underlying gene defects.

artículo científico publicado en 2005

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

artículo científico publicado en 2009

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

artículo científico publicado en 2017

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Identifying genes responsible for intellectual disability in consanguineous families

artículo científico publicado en 2014

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

artículo científico publicado en 2005

Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.

artículo científico publicado en 2013

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

In-frame deletion inMECP2 causes mild nonspecific mental retardation

artículo científico publicado en 2002

Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders

artículo científico publicado en 2018

Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus

artículo científico publicado en 2017

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

artículo científico publicado en 2012

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

artículo científico publicado en 2007

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.

artículo científico publicado en 2003

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

artículo científico publicado en 2014

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

artículo científico publicado en 1999

Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?

artículo científico publicado en 2008

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

artículo científico publicado en 2002

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus

scientific article published on 22 September 2015

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.

artículo científico publicado en 2007

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

artículo científico publicado en 2004

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

artículo científico publicado en 2005

Meier-Gorlin syndrome: report of eight additional cases and review.

artículo científico publicado en 2001

MicroRNA networks direct neuronal development and plasticity.

artículo científico publicado en 2011

MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and mGluR-Dependent LTD.

artículo científico publicado en 2015

MicroRNA-181 promotes synaptogenesis and attenuates axonal outgrowth in cortical neurons.

artículo científico publicado en 2016

MicroRNA-338 Attenuates Cortical Neuronal Outgrowth by Modulating the Expression of Axon Guidance Genes

artículo científico publicado en 2016

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

artículo científico publicado en 2013

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

artículo científico publicado en 1997

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

artículo científico publicado en 2012

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

artículo científico publicado en 2009

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in CSPP1 lead to classical Joubert syndrome

artículo científico publicado en 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

artículo científico publicado en 2013

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in different components of FGF signaling in LADD syndrome

artículo científico publicado en 2006

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

artículo científico publicado en 2004

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

artículo científico publicado en 2002

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

artículo científico publicado en 2006

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

artículo científico publicado en 2006

Mutations in the human TBX4 gene cause small patella syndrome

artículo científico publicado en 2004

Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.

artículo científico publicado en 2002

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

artículo científico publicado en 2016

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

artículo científico publicado en 2016

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.

artículo científico publicado en 2005

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

artículo científico publicado en 2009

P63 gene mutations and human developmental syndromes.

artículo científico publicado en 2002

PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis

artículo científico publicado en 2002

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

artículo científico publicado en 2005

PRPS1 mutations: four distinct syndromes and potential treatment.

artículo científico publicado en 2010

Pathogenesis of split-hand/split-foot malformation.

artículo científico publicado en 2003

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

scientific article published on 18 September 2020

Pattern of p63 mutations and their phenotypes--update

artículo científico publicado en 2006

Perinatal reduction of functional serotonin transporters results in developmental delay.

artículo científico publicado en 2016

Phenotype variations within a choroideremia family lacking the entire CHM gene

artículo científico publicado en 1995

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

artículo científico publicado en 2012

Plexin D1 expression is induced on tumor vasculature and tumor cells: a novel target for diagnosis and therapy?

artículo científico publicado en 2005

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

artículo científico publicado en 2012

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

artículo científico publicado en 2013

Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice.

artículo científico publicado en 2009

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

artículo científico publicado en 2006

Regulation of MYCN expression in human neuroblastoma cells.

artículo científico publicado en 2009

Regulation of vitamin metabolism by p53 and p63 in development and cancer

artículo científico publicado el 15 de julio de 2010

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness

artículo científico publicado en 2013

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

artículo científico publicado en 2009

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

artículo científico publicado en 2010

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients

artículo científico publicado en 2004

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

artículo científico publicado en 2009

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

artículo científico publicado en 2009

Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

artículo científico publicado en 2002

Split-hand/split-foot malformation with paternal mutation in the p63 gene

artículo científico publicado en 2001

Splitting p63

artículo científico publicado en 2002

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

TAp63 is important for cardiac differentiation of embryonic stem cells and heart development.

artículo científico publicado en 2011

The Opitz syndrome gene product, MID1, associates with microtubules

artículo científico publicado en 1999

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

The genetics of cognitive epigenetics.

artículo científico

The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a

artículo científico publicado en 2015

The schizophrenia risk gene MIR137 acts as a hippocampal gene network node orchestrating the expression of genes relevant to nervous system development and function.

artículo científico

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

artículo científico publicado en 2001

Tooth agenesis and orofacial clefting: genetic brothers in arms?

artículo científico publicado en 2016

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

artículo científico publicado en 2002

Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation.

artículo científico publicado en 2015

Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development.

artículo científico publicado en 2017

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

artículo científico publicado en 2006

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

artículo científico publicado en 2010

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

WNT5A mutations in patients with autosomal dominant Robinow syndrome

artículo científico publicado en 2010

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

artículo científico publicado en 2009

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

artículo científico publicado en 2001

p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome

artículo científico publicado en 2012

p63-associated disorders.

artículo científico publicado en 2007

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