Alagille syndrome (Q33678457)

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scientific article

Language	Label	Description	Also known as
English	Alagille syndrome	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

Alagille syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Krantz ID

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Piccoli DA

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Spinner NB

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 February 1997

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

152-157

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Liver transplantation for Alagille's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Segregation analysis of Alagille syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Alagille syndrome: family studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Alagille syndrome and deletion of 20p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Screening of microdeletions of chromosome 20 in patients with Alagille syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Alagille syndrome with de Novo del(20) (p 11.2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Anterior chamber cleavage syndrome. A stepladder classification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Studies of the aetiology of neonatal hepatitis and biliary atresia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

14 July 2018

Four generations of arteriohepatic dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

30 October 2018

Del(20p) with manifestations of arteriohepatic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050871

30 October 2018

Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic Dysplasia: A Benign Syndrome of Intrahepatic Cholestasis with Multiple Organ Involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia: association of liver disease with pulmonary arterial stenosis as well as facial and skeletal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia: radiologic features of a new syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromatic hepatic ductular hypoplasia (arteriohepatic dysplasia): a clinical and hepatic histologic study of three patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in liver histology in Alagille's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular findings in arteriohepatic dysplasia (Alagille's syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia: phenotypic features and family studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal abnormalities in paucity of interlobular bile ducts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arteriohepatic dysplasia and cardiovascular malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9039994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.2.152

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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