about
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndromeCornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BIncreased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repairPrecocious sister chromatid separation (PSCS) in Cornelia de Lange syndromeDisruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesCornelia de Lange syndrome, cohesin, and beyondCauses of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literatureIdentification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnanciesMultiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange SyndromeDosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathiesExclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromeCongenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysisGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeMultifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange SyndromeDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.A case of Cornelia de Lange syndrome from Sudan.Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.Cornelia de lange syndrome.NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsNipbl and mediator cooperatively regulate gene expression to control limb development.Cornelia de Lange Syndrome with NIPBL gene mutation: a case reportDominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrencesMutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity.Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionBehavioural phenotype of Cornelia de Lange syndrome.Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart DefectsAssociation of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome.NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationGenetics of Vesicoureteral Reflux.Pyloric stenosis--do males and females present differently?Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.Natural history of aging in Cornelia de Lange syndrome.Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experienceA giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
de Lange syndrome: a clinical review of 310 individuals
@ast
de Lange syndrome: a clinical review of 310 individuals
@en
de Lange syndrome: a clinical review of 310 individuals
@en-gb
de Lange syndrome: a clinical review of 310 individuals
@nl
type
label
de Lange syndrome: a clinical review of 310 individuals
@ast
de Lange syndrome: a clinical review of 310 individuals
@en
de Lange syndrome: a clinical review of 310 individuals
@en-gb
de Lange syndrome: a clinical review of 310 individuals
@nl
prefLabel
de Lange syndrome: a clinical review of 310 individuals
@ast
de Lange syndrome: a clinical review of 310 individuals
@en
de Lange syndrome: a clinical review of 310 individuals
@en-gb
de Lange syndrome: a clinical review of 310 individuals
@nl
P2093
P3181
P356
P1476
de Lange syndrome: a clinical review of 310 individuals
@en
P2093
P3181
P356
10.1002/AJMG.1320470703
P407
P577
1993-11-15T00:00:00Z