|
| 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 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
|
20124326 |
2010 |
|
| 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 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
|
| 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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
|
17661813 |
2007 |
|
| 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 |
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 |
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
|
15146186 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Cornelia de Lange syndrome: description of the orofacial features and case report.
|
19886366 |
2008 |
|
| 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 |
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 |
Biomarker
|
disease |
CTD_human |
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
|
29379197 |
2018 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
de Lange syndrome: a clinical review of 310 individuals.
|
8291537 |
1993 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
|
17661813 |
2007 |
|
| 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 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| 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 |
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
|
16100726 |
2005 |