Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
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A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardationMutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingLoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeMETTL23, a transcriptional partner of GABPA, is essential for human cognition.High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Adaptive evolution in zinc finger transcription factors.The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues.The genetic basis of non-syndromic intellectual disability: a reviewCAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityHigh-resolution genomic microarrays for X-linked mental retardation.Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.X linked mental retardation: a clinical guide.Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia.X-linked mental retardation and epigenetics.MicroRNA-181a modulates gene expression of zinc finger family members by directly targeting their coding regions.X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Modifiers of Prat, a de novo purine synthesis gene, in Drosophila melanogaster.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.Deep sequencing reveals 50 novel genes for recessive cognitive disorders.Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.X-linked mental retardation
P2860
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P2860
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@ast
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en-gb
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@nl
type
label
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@ast
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en-gb
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@nl
prefLabel
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@ast
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en-gb
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@nl
P2093
P2860
P50
P356
P1476
Mutations in the ZNF41 gene ar ...... or X-linked mental retardation
@en
P2093
Bernard Echenne
Hans Van Bokhoven
Hans-Dieter Rott
Jean-Pierre Fryns
Kirsten Hoffmann
Michael Partington
Sarah A Shoichet
Udo Trautmann
P2860
P304
P356
10.1086/380309
P407
P50
P577
2003-11-18T00:00:00Z