(Q21261454)

17 August 2022

8

Jeffrey A Towbin

Jeffrey A

Towbin

1 reference

17 August 2022

5

Carlos A

Bacino

Carlos A Bacino

1 reference

17 August 2022

Seema R Lalani

1

Seema R

Lalani

1 reference

17 August 2022

Arsalan M Safiullah

2

Arsalan M

Safiullah

1 reference

17 August 2022

Susan D Fernbach

3

Susan D

Fernbach

1 reference

17 August 2022

Michael Phillips

4

Michael

Phillips

1 reference

17 August 2022

Laura M Molinari

6

Laura M

Molinari

1 reference

17 August 2022

Nancy L Glass

7

Nancy L

Glass

1 reference

17 August 2022

William J Craigen

9

William J

Craigen

1 reference

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

17 August 2022

language of work or name

English

0 references

publication date

14 February 2005

0 references

published in

BMC Medical Genetics

0 references

volume

6

0 references

issue

1

0 references

page(s)

8

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

Notch signaling is essential for vascular morphogenesis in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

Congenital aplasia of the semicircular canals

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

True pedigree errors more frequent than apparent errors for single nucleotide polymorphisms.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

CHARGE association: an update and review for the primary pediatrician

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

SEMA3E mutation in a patient with CHARGE syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

A recognizable syndrome within CHARGE association: Hall-Hittner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

Exclusion of PITX2 mutations as a major cause of CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

Positional Identification of Microdeletions with Genetic Markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

A CGH study of 27 patients with CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-8

An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=550653

Bilateral semicircular canal aplasia: a characteristic of the CHARGE association

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/15710038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery

1 reference

https://pubmed.ncbi.nlm.nih.gov/15710038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15710038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-6-8

0 references

PMC publication ID

550653

0 references