(Q43147036)

English

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

scientific article published on 23 August 2005

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

0 references

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins (English)

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

author name string

D Johnson

1

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

N Morrison

2

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

L Grant

3

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

T Turner

4

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

J Fantes

5

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

J M Connor

6

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

V Murday

7

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

language of work or name

0 references

publication date

23 August 2005

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

43

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

3

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

280-284

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

Chd1 chromodomain links histone H3 methylation with SAGA- and SLIK-dependent acetylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

The many colours of chromodomains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Choanal atresia, CHARGE association, and congenital nasal stenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

The language of covalent histone modifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

CHARGE association: an update and review for the primary pediatrician

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Choanal atresia and associated multiple anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

25 May 2018

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563251

15 August 2018

A CGH study of 27 patients with CHARGE association

1 reference

https://pubmed.ncbi.nlm.nih.gov/16118347

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twins with oesophageal atresia and the CHARGE association

1 reference

https://pubmed.ncbi.nlm.nih.gov/16118347

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16118347

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 18 in a patient with CHARGE association

1 reference

https://pubmed.ncbi.nlm.nih.gov/16118347

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.032946

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

ResearchGate publication ID

0 references

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