Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis (Q38305536)

2 September 2017

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis (English)

1 reference

2 September 2017

intrahepatic cholestasis

1 reference

Anil G Jegga

3

0 references

Bruce J Aronow

2

object named as

Bruce J Aronow

1 reference

2 September 2017

7

Jorge A Bezerra

1 reference

2 September 2017

Cong Liu

1

1 reference

2 September 2017

Ning Wang

4

1 reference

2 September 2017

Alex Miethke

5

1 reference

2 September 2017

Reena Mourya

6

1 reference

2 September 2017

language of work or name

English

0 references

publication date

21 October 2006

1 reference

2 September 2017

1 reference

2 September 2017

132

1 reference

2 September 2017

1

1 reference

2 September 2017

119-126

1 reference

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

2 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Whatever happened to "neonatal hepatitis"?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Detection and visualization of compositionally similar cis-regulatory element clusters in orthologous and coordinately controlled genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Jagged1 mutations in alagille syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

A missense mutation in FIC1 is associated with greenland familial cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Mutational analysis of the Jagged 1 gene in Alagille syndrome families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Histologic pathology of the liver in progressive familial intrahepatic cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Cholestatic jaundice in infancy. The importance of familial and genetic factors in aetiology and prognosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Biliary atresia: current concepts and research directions. Summary of a symposium

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Mutations identified in the human multidrug resistance P-glycoprotein 3 (ABCB4) gene in patients with primary hepatolithiasis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

ABCB4 gene mutation-associated cholelithiasis in adults

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Pi*S and Pi*Z alpha 1 antitrypsin polymorphism and the risk for asbestosis in occupational exposure to asbestos.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase levels

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190109

Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation

3 December 2018

1 reference

12 December 2020

A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency

1 reference

12 December 2020

Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference

1 reference

12 December 2020

The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia

1 reference

12 December 2020

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

1 reference

12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1 reference

12 December 2020

Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis

1 reference

12 December 2020

Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin

1 reference

12 December 2020

10.1053/J.GASTRO.2006.10.034

Identifiers

DOI

1 reference

release_hafgoe73mbewhmvbwxwiznn6im

2 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hafgoe73mbewhmvbwxwiznn6im

24 November 2022

mapped directly with Wikidata item

1 reference

2 September 2017

PubMed publication ID

17241866

1 reference