(Q28304688)

2

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B M Kamath

3

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J J D Morrissette

4

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P A Sanchez-Lara

5

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P Sanchez

6

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D A Piccoli

7

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I D Krantz

8

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N B Spinner

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

9

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language of work or name

English

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publication date

May 2006

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published in

Human Mutation

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volume

27

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page(s)

436-43

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issue

5

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

21 January 2018

1 reference

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7 January 2021

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

An update on conformation sensitive gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Facial features in Alagille syndrome: specific or cholestasis facies?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Consequences of JAG1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Jagged-1 mutation analysis in Italian Alagille syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Jagged1 mutations in alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

Mutational analysis of the Jagged 1 gene in Alagille syndrome families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021

The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20310

7 January 2021