Lista de obras - Tjitske Kleefstra - Dominio Público Uruguay

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

artículo científico publicado en 2013

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

artículo científico publicado en 2014

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

artículo científico publicado en 2017

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 detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

artículo científico publicado en 2016

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

artículo científico publicado en 2016

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

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

artículo científico publicado en 2015

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

artículo científico publicado en 2016

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

artículo científico publicado en 2009

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

artículo científico publicado en 2009

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

artículo científico publicado en 2016

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

artículo científico publicado en 2015

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

artículo científico publicado en 2017

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

artículo científico publicado en 2019

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

artículo científico publicado en 2015

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

artículo científico publicado en 2016

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

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

artículo científico publicado en 2005

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

scientific article published on 01 January 2020

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

artículo científico publicado en 2014

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

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

scholarly article published in European Journal of Human Genetics

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

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

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

artículo científico publicado en 2022

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

artículo científico publicado en 2004

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

artículo científico publicado en 2011

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

artículo científico publicado en 2017

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

artículo científico publicado en 2016

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

artículo científico publicado en 2017

High prevalence of SLC6A8 deficiency in X-linked mental retardation

artículo científico publicado en 2004

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

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

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 an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

artículo científico publicado en 2000

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

artículo científico publicado en 2013

In-frame deletion inMECP2 causes mild nonspecific mental retardation

artículo científico publicado en 2002

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

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

artículo científico publicado en 2014

Kleefstra Syndrome

artículo científico publicado en 1993

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

artículo científico publicado en 2002

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

artículo científico publicado en 2006

Low frequency of MECP2 mutations in mentally retarded males.

artículo científico publicado en 2002

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

artículo científico publicado en 2004

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

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

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

artículo científico publicado en 2010

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

artículo científico publicado en 2019

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

artículo científico publicado en 2012

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

artículo científico publicado en 2021

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

artículo científico publicado en 2005

Pure subtelomeric microduplications as a cause of mental retardation.

artículo científico publicado en 2007

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

artículo científico publicado en 2017

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

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Renpenning syndrome comes into focus

artículo científico publicado en 2005

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

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

artículo científico publicado en 2016

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

The chromosome 9q subtelomere deletion syndrome

artículo científico publicado en 2007

The genetics of cognitive epigenetics.

artículo científico

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

artículo científico publicado en 2014

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

artículo científico publicado en 2012

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Variability in dentofacial phenotypes in four families with WNT10A mutations

artículo científico publicado en 2014

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

X-linked mental retardation: further lumping, splitting and emerging phenotypes

artículo científico publicado en 2005

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

artículo científico publicado en 2005

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

artículo científico publicado en 2004

Lista de obras de Tjitske Kleefstra

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

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

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

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

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

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

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

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

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

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

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

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

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

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

Extreme growth failure is a common presentation of ligase IV deficiency

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

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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

Genome sequencing identifies major causes of severe intellectual disability

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

High prevalence of SLC6A8 deficiency in X-linked mental retardation

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

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

Homozygosity mapping in outbred families with mental retardation

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

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

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

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

In-frame deletion inMECP2 causes mild nonspecific mental retardation

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

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

Kleefstra Syndrome

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

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

Low frequency of MECP2 mutations in mentally retarded males.

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

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling