Spectrum of NSD1 mutations in Sotos and Weaver syndromes
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The Epc-N domain: a predicted protein-protein interaction domain found in select chromatin associated proteinsCognition and Behaviour in Sotos Syndrome: A Systematic ReviewThe interplay of histone modifications - writers that readA case of Sotos syndrome with subduroperitoneal shuntGenetic considerations in the prenatal diagnosis of overgrowth syndromesIdentification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionGenotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Mutations in EZH2 cause Weaver syndrome.The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthdHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.Sotos syndrome.Camptodactyly in Sotos syndrome.Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Molecular basis of Sotos syndrome.Identification of disease genes by whole genome CGH arrays.Genome-wide DNA methylation map of human neutrophils reveals widespread inter-individual epigenetic variation.Sotos syndrome: An interesting disorder with gigantismSteric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.Targets in epigenetics: inhibiting the methyl writers of the histone codeCommonest overgrowth syndromes.Examining the impact of gene variants on histone lysine methylationThe NSD1 and EZH2 overgrowth genes, similarities and differences.Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.Mutations in SETD2 cause a novel overgrowth condition.Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Genetic analysis of tall stature.Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.Genotype-phenotype correlation in patients suspected of having Sotos syndrome.Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.Childhood overgrowth in patients with common NF1 microdeletions.Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.Evaluation of NSD2 and NSD3 in overgrowth syndromes
P2860
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P2860
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@ast
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@en
type
label
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@ast
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@en
prefLabel
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@ast
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@en
P2093
P50
P356
P1476
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
@en
P2093
M Le Merrer
M Vekemans
P304
P356
10.1136/JMG.40.6.436
P407
P577
2003-06-01T00:00:00Z