(Q34544044)

2 August 2017

Consequences of JAG1 mutations (English)

1 reference

2 August 2017

B M Kamath

1

1 reference

2 August 2017

L Bason

2

1 reference

2 August 2017

D A Piccoli

3

1 reference

2 August 2017

I D Krantz

4

1 reference

2 August 2017

N B Spinner

5

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 December 2003

1 reference

Journal of Medical Genetics

2 August 2017

1 reference

2 August 2017

40

1 reference

2 August 2017

12

1 reference

2 August 2017

891-895

1 reference

Facial features in Alagille syndrome: specific or cholestasis facies?

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Outcome of liver disease in children with Alagille syndrome: a study of 163 patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Alagille syndrome. The widening spectrum of arteriohepatic dysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Jagged1 mutations in alagille syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Alagille syndrome: family studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Butterfly vertebra: a case report

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735339

Skeletal anomalies and deformities in patients with deletions of 22q11

27 October 2018

1 reference

12 December 2020

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

1 reference

12 December 2020

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

1 reference

12 December 2020

Ocular findings in arteriohepatic dysplasia (Alagille's syndrome)

1 reference

12 December 2020

Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy

1 reference

12 December 2020

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.12.891

1 reference

2 August 2017

1 reference

2 August 2017

1 reference