Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
about
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansBehavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy.NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationGenomic disorders ten years on.Application of array-based comparative genomic hybridization to pediatric neurologic diseasesSpecial cases in Cornelia de Lange syndrome: The Spanish experience.Spatial genome organization and cognition.A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.Could a patient with SMC1A duplication be classified as a human cohesinopathy?Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome.Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome
P2860
Q28481587-A8B5FFF2-CE90-4760-8F82-D6D3C27FE9D8Q30386863-47945BCC-E87F-4C00-B1E3-A7C0647C9CD3Q33556059-12DD2EA1-2404-4CAB-A5E2-DC121DCC7E96Q33967213-2F2990ED-0A5F-411B-9DEA-CECC3EAD9331Q36035735-5563EB1C-C0A6-4181-8E7C-02D1939D10D8Q36234122-F58C3573-7F77-44F0-BB76-F5027C40E875Q36567024-957F464B-2D4D-45B0-AE2D-55DB1B0CD583Q37198442-7CE4E224-0311-4E41-916A-BA49697EC372Q37418851-3209587A-D729-4AD9-BB4E-694FB492FED9Q38831018-9C4CF596-188C-46AD-B2C5-56D6EC274262Q38973220-12A45E89-663B-495E-AFF9-6EF515C277BEQ43117238-4FD5940B-24B9-4CFF-A31E-2DD68ACEA036Q43507978-EF3851FC-692E-4C4A-9BDE-A2D08A5A20D1Q46877435-F6488001-E0B8-47E9-814D-E1C8A2F1911CQ47883748-A8ADA293-1117-4DFC-B01A-15AEC5E0E05DQ52149550-D28BA811-9E9F-4A55-8641-4006675E31EAQ52620494-524D09DF-6EB1-494B-A51E-9AB8CA75A17BQ53201232-232BB588-A67E-43C7-A862-FC738E346A7FQ54261387-FD9312C2-6C2B-4314-B251-CB8529D5C3E2Q54941713-12B3EF7F-841F-41DF-B434-F989BFB0AAF3Q57573621-53E4C00B-ABDF-4E57-AA9A-7ABAAC9EBDA9
P2860
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Genomic duplication resulting ...... istinct from Cornelia de Lange
@ast
Genomic duplication resulting ...... istinct from Cornelia de Lange
@en
Genomic duplication resulting ...... istinct from Cornelia de Lange
@nl
type
label
Genomic duplication resulting ...... istinct from Cornelia de Lange
@ast
Genomic duplication resulting ...... istinct from Cornelia de Lange
@en
Genomic duplication resulting ...... istinct from Cornelia de Lange
@nl
prefLabel
Genomic duplication resulting ...... istinct from Cornelia de Lange
@ast
Genomic duplication resulting ...... istinct from Cornelia de Lange
@en
Genomic duplication resulting ...... istinct from Cornelia de Lange
@nl
P2093
P2860
P356
P1476
Genomic duplication resulting ...... istinct from Cornelia de Lange
@en
P2093
A C Chinault
A Scheuerle
D Stachiw-Hietpas
E Brundage
H B Robinson
J R Lupski
K M Keppler-Noreuil
P2860
P304
P356
10.1136/JMG.2008.062471
P407
P50
P577
2009-09-01T00:00:00Z