Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.

Scandinavian journal of gastroenterology - 1 Mar 2018

Aamann Luise, Ørntoft Nikolaj, Vogel Ida, Grønbaek Henning, Becher Naja, Vilstrup Hendrik, Ott Peter, Lildballe Dorte Launholt

Abstract excerpt

OBJECTIVES: A few adult and adolescent patients with even severe cholestatic liver disease remain unexplained after standard diagnostic work-up. We studied the value of genetic examination in such patients and developed a panel of eight genes with known cholestatic associations. MATERIALS AND METHODS: Thirty-three patients with unexplained cholestasis despite a thorough clinical work-up were examined for sequence...

Topics

Join the communities discussing this publication.

Cholestasis, Intrahepatic
Genetic Testing
High-Throughput Nucleotide Sequencing
Multidrug Resistance-Associated Protein 2
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy Complications

Source

Identifiers

PMID: 29304564
DOI: 10.1080/00365521.2017.1422800

Genes

UGT1A1
ABCB11
ABCB4
ABCC2
ABCG5
ATP8B1
JAG1
NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.PMID 29304564Read ↗

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.Semantic proximity Read ↗

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.Semantic proximity Read ↗

Idiopathic cholestasis in adults: Genetics as another lens for liver pathologists.Semantic proximity Read ↗

Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Semantic proximity Read ↗

Neonatal Cholestasis: Exploring Genetic Causes and Clinical OutcomesSemantic proximity Read ↗

Diagnostic yield and novel candidate genes by exome sequencing in 166 children with intrahepatic cholestasisSemantic proximity Read ↗

Genetic profiling of children with advanced cholestatic liver disease.Semantic proximity Read ↗

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsSemantic proximity Read ↗

Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.Semantic proximity Read ↗

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.Semantic proximity Read ↗

Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver DiseaseSemantic proximity Read ↗

Analysis of gene mutations in children with cholestasis of undefined etiology.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.