(Q36753645)

16 August 2017

Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis (English)

1 reference

16 August 2017

1 reference

Rachel Sheridan

7

0 references

Phillip Dexheimer

object named as

Phillip Dexheimer

4

0 references

Jorge A Bezerra

9

object named as

Jorge A Bezerra

1 reference

16 August 2017

Monique L Goldschmidt

1

1 reference

16 August 2017

Reena Mourya

2

1 reference

16 August 2017

Jessica Connor

3

1 reference

16 August 2017

Rebekah Karns

5

1 reference

16 August 2017

Alexander Miethke

6

1 reference

16 August 2017

Kejian Zhang

8

1 reference

16 August 2017

language of work or name

1 reference

29 June 2015

1 reference

16 August 2017

1 reference

16 August 2017

46

1 reference

16 August 2017

4

1 reference

16 August 2017

306-311

1 reference

Interpretation and management of hepatic abnormalities in pregnancy

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Update on progressive familial intrahepatic cholestasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Predicting the effects of amino acid substitutions on protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Whatever happened to "neonatal hepatitis"?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Prediction of deleterious human alleles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Amino acid difference formula to help explain protein evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Analysis of gene mutations in children with cholestasis of undefined etiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

EASL Clinical Practice Guidelines: management of cholestatic liver diseases.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

Intrahepatic cholestasis: order out of chaos.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4816673

5 September 2018

Identifiers

DOI

10.1111/HEPR.12545

1 reference

16 August 2017

1 reference

16 August 2017

1 reference