(Q28274832)

inferred from title

congenital heart disease

1 reference

9

Elizabeth Goldmuntz

0 references

author name string

Kathryn C Chatfield

1

0 references

Samantha A Schrier

2

0 references

Jennifer Li

3

0 references

Dinah Clark

4

0 references

Maninder Kaur

5

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Antonie D Kline

6

0 references

Matthew A Deardorff

7

0 references

Laird S Jackson

8

0 references

Ian D Krantz

American Journal of Medical Genetics Part A

10

0 references

language of work or name

English

0 references

publication date

October 2012

0 references

published in

1 reference

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

volume

158A

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issue

10

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page(s)

2499-505

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

de Lange syndrome: a clinical review of 310 individuals

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

Brachmann-de Lange syndrome. 1994 update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

Sixty-four patients with Brachmann-de Lange syndrome: a survey.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551981

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35582

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35582

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35582

Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance

21 January 2018

1 reference

12 December 2020

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

12 December 2020

Brachmann-de Lange syndrome and congenital heart disease

1 reference

12 December 2020

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35582

1 reference

release_by3vhnmze5gybf4bqdo45ovj6e

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/by3vhnmze5gybf4bqdo45ovj6e

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

22965847

1 reference