Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients - Wikidata - awgldk - TriplyDB

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

http://www.wikidata.org/entity/Q28274147

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Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.Cohesin and human disease.A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes.Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

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P2860

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

http://www.wikidata.org/entity/Q28274147

description

2007 nî lūn-bûn

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2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2007年の論文

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2007年学术文章

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2007年学术文章

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name

Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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SJ.EJHG.5201737

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European Journal of Human Genetics

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Comprehensive mutational analy ...... lia de Lange syndrome patients

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Ake Borg

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Ann Charlotte Thuresson

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Britt Marie Anderlid

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Gunilla Malm

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Jacqueline Schoumans

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Johan Staaf

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Josephine Wincent

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Michela Barbaro

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Paula Maguire

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P2860

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

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

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

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

Diagnostic genome profiling in mental retardation.

An optimized set of human telomere clones for studying telomere integrity and architecture.

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

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