Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. (Q52676176)

5 May 2018

title

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. (English)

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5 May 2018

Cornelia de Lange syndrome

main subject

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6

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Joanna Moss

object named as

Joanna Moss

1

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Judith A Goodship

7

object named as

Judith Goodship

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5 May 2018

author name string

Jessica Penhallow

2

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Morad Ansari

3

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Stephanie Barton

4

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David Bourn

5

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Peter Hammond

8

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Catherine Roberts

9

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Alice Welham

10

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Chris Oliver

11

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language of work or name

English

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publication date

19 April 2017

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5 May 2018

American Journal of Medical Genetics

published in

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5 May 2018

volume

173

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issue

6

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5 May 2018

page(s)

1566-1574

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5 May 2018

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

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

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The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability.

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

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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RAD21 mutations cause a human cohesinopathy

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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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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

21 January 2018

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Health and sleep problems in Cornelia de Lange Syndrome: a case control study

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Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: findings from a study of individuals with Cohen syndrome.

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

21 January 2018

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Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.

21 January 2018

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Natural history of aging 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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Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

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

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The prevalence and phenomenology of repetitive behavior in genetic syndromes.

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

21 January 2018

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A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome

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

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Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

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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Preliminary analysis of the psychometric properties of the Mood, Interest & Pleasure Questionnaire (MIPQ) for adults with severe and profound learning disabilities

21 January 2018

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

21 January 2018

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Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events

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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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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Autism characteristics and behavioural disturbances in ~ 500 children with Down's syndrome in England and Wales

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38228

1 reference

5 May 2018

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5 May 2018