Condition: Cornelia de Lange Syndrome 1


rs1057516034 in NIPBL gene and Cornelia de Lange Syndrome 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 28167679 2017 Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

PMID 23254390 2013 Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

PMID 21934712 2012 Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

PMID 20124326 2010 Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.

PMID 15318302 2004 NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

PMID 25447906 2015 Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

PMID 20358602 2010 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

PMID 20824775 2010 Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 17661813 2007 Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

PMID 26925417 2016 Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

PMID 26701315 2016 A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 24874887 2014 Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

PMID 24635725 2014 Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

PMID 16236812 2006 Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

PMID 16100726 2005 Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

PMID 26725122 2016 NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

PMID 23505322 2013 High rate of mosaicism in individuals with Cornelia de Lange syndrome.