Cornelia de Lange syndrome (Q55981973)

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16 February 2020

review article

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title

Cornelia de Lange syndrome (English)

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5

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author name string

M I Boyle

1

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16 February 2020

C Jespersgaard

2

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16 February 2020

K Brøndum-Nielsen

3

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A-M Bisgaard

4

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publication date

28 October 2014

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16 February 2020

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volume

88

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issue

1

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page(s)

1-12

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de Lange syndrome: a clinical review of 310 individuals

16 February 2020

cites work

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Natural history of aging in Cornelia de Lange syndrome

21 January 2018

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Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

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Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

21 January 2018

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Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome

21 January 2018

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Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome

21 January 2018

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Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes

21 January 2018

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Autism traits in children and adolescents with Cornelia de Lange syndrome.

21 January 2018

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Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

21 January 2018

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The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.

21 January 2018

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Behavioural phenotype of Cornelia de Lange syndrome: case-control study.

21 January 2018

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Insomnia in Cornelia de Lange syndrome

21 January 2018

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Characterization of sleep disturbance in Cornelia de Lange Syndrome

21 January 2018

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Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology

21 January 2018

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Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

21 January 2018

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Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.

21 January 2018

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Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis

21 January 2018

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

21 January 2018

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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

21 January 2018

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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

21 January 2018

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Immunologic features of Cornelia de Lange syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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RAD21 mutations cause a human cohesinopathy

21 January 2018

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

21 January 2018

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

21 January 2018

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

21 January 2018

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Cohesinopathies of a feather flock together

21 January 2018

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Genetic basis of cohesinopathies

21 January 2018

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Cohesin: functions beyond sister chromatid cohesion

21 January 2018

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The ancient and evolving roles of cohesin in gene expression and DNA repair

21 January 2018

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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

21 January 2018

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

21 January 2018

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Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

21 January 2018

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A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

21 January 2018

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Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

21 January 2018

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

21 January 2018

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

21 January 2018

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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

21 January 2018

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Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

21 January 2018

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Germline mosaicism in Cornelia de Lange syndrome.

21 January 2018

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

21 January 2018

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Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

21 January 2018

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

21 January 2018

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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

21 January 2018

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

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Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

21 January 2018

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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

21 January 2018

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

21 January 2018

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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

21 January 2018

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

21 January 2018

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Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

21 January 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

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A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

21 January 2018

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Familial partial trisomy of the long arm of chromosome 3 (3q)

21 January 2018

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Mechanisms involved in central nervous system dysfunctions induced by prenatal ethanol exposure

21 January 2018

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Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

21 January 2018

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Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

21 January 2018

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Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

21 January 2018

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The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

21 January 2018

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Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation

21 January 2018

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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

21 January 2018

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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

21 January 2018

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Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome

21 January 2018

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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies

21 January 2018

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Mortality, pathological findings and causes of death in the de Lange syndrome.

21 January 2018

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People with intellectual disability: what do we know about adulthood and life expectancy?

21 January 2018

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Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

21 January 2018

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Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12499

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25209348%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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