Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences (Q34468906)

2 August 2017

1 reference

title

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

1 reference

Cornelia de Lange syndrome

2 August 2017

1 reference

K L Russell

1

1 reference

2 August 2017

J E Ming

2

1 reference

2 August 2017

K Patel

3

1 reference

2 August 2017

L Jukofsky

4

1 reference

2 August 2017

M Magnusson

5

1 reference

2 August 2017

I D Krantz

6

1 reference

2 August 2017

1 December 2001

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American Journal of Medical Genetics Part A

2 August 2017

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2 August 2017

104

1 reference

2 August 2017

267-276

1 reference

2 August 2017

4

1 reference

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Autosomal dominant inheritance of Brachmann-de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

de Lange syndrome: a clinical review of 310 individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Brachmann-de Lange syndrome. 1994 update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Familial occurrence of Cornelia de Lange's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Cornelia de Lange syndrome in several members of the same family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Cornelia de Lange syndrome in a mother and daughter.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

The Brachmann-de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Brachmann-de Lange syndrome in sibs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Mild Brachmann-de Lange syndrome: changes of phenotype with age.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

The hand profile on de Lange syndrome: diagnostic criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Male-to-male transmission of mild Brachmann-de Lange syndrome.

6 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

On the variability of the Brachmann-de Lange syndrome in seven patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

BRACHMANN/DE LANGE SYNDROME

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

Definition and diagnosis of the Brachmann-De Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

THE CORNELIA DE LANGE SYNDROME.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

Two cases of De Lange's syndrome (typus degenerativus amstelodamensis).

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4894663

Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome

27 October 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10066

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

21 January 2018

1 reference

12 December 2020

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

1 reference

12 December 2020

Brachmann-de Lange syndrome. Report of two cases in a sibship

1 reference

12 December 2020

Variability of the Brachmann-de Lange syndrome

1 reference

12 December 2020

Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome

1 reference

12 December 2020

Duplication 3q syndrome: molecular delineation of the critical region

1 reference

12 December 2020

Variability of the de Lange syndrome: report of 3 cases and genetic analysis of 54 families

1 reference

12 December 2020

Familial de Lange syndrome. Report of three cases in a sibship

1 reference

12 December 2020

Familial occurrence of Brachmann-de Lange syndrome

1 reference

12 December 2020

The Brachmann-de Lange syndrome in two siblings of normal parents

1 reference

12 December 2020

Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.10066

1 reference

release_ypuwadhkw5b2nlibeatq5jrrz4

2 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ypuwadhkw5b2nlibeatq5jrrz4

24 November 2022

mapped directly with Wikidata item

PMCID

4894663

1 reference

2 August 2017

1 reference