(Q28142606)

1

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C Driancourt

2

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N Raynaud

3

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S Dhorne-Pollet

4

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O Bernard

6

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M Hadchouel

7

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M Meunier-Rotival

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

8

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language of work or name

English

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publication date

May 1999

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published in

Gastroenterology

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volume

116

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issue

5

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page(s)

1141-8

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cites work

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Segregation analysis of Alagille syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Studies of the aetiology of neonatal hepatitis and biliary atresia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Alagille syndrome and deletion of 20p.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Identification and Cloning of the Human Homolog (JAG1) of the RatJagged1Gene from the Alagille Syndrome Critical Region at 20p12

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Jagged: A mammalian ligand that activates notch1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Mutational analysis of the Jagged 1 gene in Alagille syndrome families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Constraints acting on the exon positions of the splice site sequences and local amino acid composition of the protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Alagille syndrome--a notch up for the Notch receptor.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Identifying the right stop: determining how the surveillance complex recognizes and degrades an aberrant mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

Limitations in the use of SSCP analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0016-5085(99)70017-X

10.1016/S0016-5085(99)70017-X

7 January 2021

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

10220506

1 reference

Consolidated OpenCitations Corpus – April 2017