×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
25447906
2015
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
23254390
2013
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
23254390
2013
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
Biomarker
disease
GENOMICS_ENGLAND
Special cases in Cornelia de Lange syndrome: The Spanish experience.
27164022
2016
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
24635725
2014
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
24874887
2014
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
Biomarker
disease
GENOMICS_ENGLAND
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
29440723
2018
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
16100726
2005
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
15146185
2004
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
CLINVAR
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
15318302
2004
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
15318302
2004
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
15318302
2004
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
26725122
2016
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
20358602
2010
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
24038889
2013
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
CLINVAR
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
24038889
2013
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
Biomarker
disease
CTD_human
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
19763162
2009
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
21934712
2012
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
GeneticVariation
disease
UNIPROT
Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.
28167679
2017
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17221863
2007
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
26925417
2016
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
23505322
2013
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
16236812
2006
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
Biomarker
disease
GENOMICS_ENGLAND
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
11391654
2001
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
20824775
2010