(Q33674342)

28 July 2017

Segregation analysis of Alagille syndrome (English)

1 reference

28 July 2017

Dhorne-Pollet S

1

1 reference

28 July 2017

Deleuze JF

series ordinal

2

1 reference

28 July 2017

Hadchouel M

series ordinal

3

1 reference

28 July 2017

Bonaïti-Pellié C

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

6

1 reference

28 July 2017

453-457

1 reference

Genetic tests under incomplete ascertainment

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Multiple congenital malformations in a boy with a chromosome abnormality of the group F (46-XY, 20-P), the son of a clinically healthy subject with an analogous chromosome malformation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

The early origin of vertebral anomalies, as illustrated by a 'butterfly vertebra'

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Renal histopathology in Alagille's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Familial intrahepatic cholestatic syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Contiguous gene syndromes: a component of recognizable syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Alagille syndrome and deletion of 20p.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Studies of the aetiology of neonatal hepatitis and biliary atresia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Four generations of arteriohepatic dysplasia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

Del(20p) with manifestations of arteriohepatic dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049922

[Congenital stenosis of the pulmonary artery and its collaterals. Apropos of 20 cases]

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

Heart disease in Turner's syndrome

1 reference

12 December 2020

Nephropathy in arteriohepatic dysplasia (Alagille's syndrome)

1 reference

12 December 2020

Detection of cardiac problems among school children by health screening

1 reference

12 December 2020

A butterfly vertebra or a wedge fracture?

1 reference

12 December 2020

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit

1 reference

12 December 2020

Segregation analysis in human genetics

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.6.453

1 reference

28 July 2017

1 reference

28 July 2017

1 reference