Alagille syndrome: pathogenesis, diagnosis and management (Q24631094)

European Journal of Human Genetics

Europe PubMed Central

title

Alagille syndrome: pathogenesis, diagnosis and management (English)

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Sian Ellard

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author name string

Peter D Turnpenny

series ordinal

1

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language of work or name

English

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publication date

March 2012

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published in

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volume

20

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page(s)

251-7

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issue

3

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cites work

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Jagged-1 mutation analysis in Italian Alagille syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Ocular ultrasound in Alagille syndrome: a new sign

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Effect of Kasai procedure on hepatic outcome in Alagille syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Pathologic lower extremity fractures in children with Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Alagille syndrome and liver transplantation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Abnormal vertebral segmentation and the notch signaling pathway in man.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Deficits in size-adjusted bone mass in children with Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Consequences of JAG1 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Craniosynostosis in Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Facial features in Alagille syndrome: specific or cholestasis facies?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Jagged1 mutations in alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Segregation analysis of Alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Studies of the aetiology of neonatal hepatitis and biliary atresia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Ocular Ultrasound in Alagille Syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.181

Intracranial vascular abnormalities in patients with Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.181

Del(20p) with manifestations of arteriohepatic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.181

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.181

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.181

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283172

Syndromatic paucity of interlobular bile ducts: hepatic histopathology of the early and endstage liver

28 November 2018

1 reference

12 December 2020

Exocrine pancreatic insufficiency in syndromic paucity of interlobular bile ducts

1 reference

12 December 2020

Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia)

1 reference

12 December 2020

Ocular abnormalities in Alagille syndrome

1 reference

12 December 2020

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1 reference

12 December 2020

Body composition of children aged 1 to 12 years with biliary atresia or Alagille syndrome

1 reference

12 December 2020

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart

1 reference

12 December 2020

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

1 reference

12 December 2020

Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

1 reference

12 December 2020

The correlation between portal myofibroblasts and development of intrahepatic bile ducts and arterial branches in human liver

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.181

1 reference

Dimensions Publication ID

350901

1033734319

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350901

1 reference

1 reference

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