Discover Community Create You

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

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Journal of molecular medicine (Berlin, Germany) - 1 Aug 2023

Connaughton Dervla M, Bhai Pratibha, Isenring Paul, Mahdi Mohammed, Sadikovic Bekim, Schenkel Laila C

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Complement and coagulation gene variants have been associated with aHUS susceptibility. We assessed the diagnostic yield of a next-generation sequencing (NGS) panel in a large cohort of Canadian patients with suspected aHUS. Molecular testing was performed on peripheral blood...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atypical Hemolytic Uremic Syndrome
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Mutation

Share to Patient Selection

Share to Reproducibility of Results

Share to Uncertainty

Source

Open in PubMed Open full text

Identifiers

PMID: 37466676
DOI: 10.1007/s00109-023-02341-4
PMCID: PMC10400659

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.PMID 37466676Read ↗

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.Semantic proximity Read ↗

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic SyndromeSemantic proximity Read ↗

Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.Semantic proximity Read ↗

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic SyndromeSemantic proximity Read ↗

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.Semantic proximity Read ↗

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney DiseaseSemantic proximity Read ↗

Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.Semantic proximity Read ↗

Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.Semantic proximity Read ↗

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