Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
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Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complexRefinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderCytogenomic Aberrations in Congenital Cardiovascular MalformationsAdvances in understanding - genetic basis of intellectual disabilityOf mice and men: molecular genetics of congenital heart diseaseAn epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis.Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.Novel primate miRNAs coevolved with ancient target genes in germinal zone-specific expression patternsMOF-associated complexes ensure stem cell identity and Xist repression.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.On the spot: very local chromosomal rearrangements.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaKANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.A novel Alzheimer disease locus located near the gene encoding tau protein.Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishComprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Making headway with genetic diagnostics of intellectual disabilities.YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.Complex phenotype associated with 17q21.31 microdeletion.Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.
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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
description
im April 2012 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована у квітні 2012
@uk
name
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@en
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@nl
type
label
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@en
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@nl
prefLabel
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@en
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@nl
P2093
P2860
P356
P1433
P1476
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
@en
P2093
Chiara Stefanini
Daniela Orteschi
Domenica Battaglia
Eugenio Mercuri
Giovanni Neri
Giuseppe Marangi
Marcella Zollino
Marina Murdolo
Pietro Chiurazzi
Serena Lattante
P2860
P2888
P356
10.1038/NG.2257
P407
P577
2012-04-29T00:00:00Z
P5875
P6179
1027380860