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

Genetic disorders and urolithiasis.

The Urologic clinics of North America - 1 May 2000

Danpure C J

Abstract excerpt

A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which urolithiasis contributes to the disease pathology at least to some extent. There is wide clinical, biochemical, and genetic heterogeneity in many of these conditions.

Read the complete abstract on PubMed

Topics

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

Share to Cystine
Share to Genotype
Share to Kidney Stones and Urolithiasis Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism and Genetic Disorders

Share to Mutation

Share to Phenotype

Share to Purines

Share to Urinary Calculi

Source

Identifiers

PMID: 10778471
DOI: 10.1016/s0094-0143(05)70258-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic disorders and urolithiasis.PMID 10778471Read ↗

Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.Semantic proximity Read ↗

[Genetic and biochemical features of the monogenic hereditary urolithiasis].Semantic proximity Read ↗

Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese PopulationSemantic proximity Read ↗

Genetic determinants of urolithiasis.Semantic proximity Read ↗

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Semantic proximity Read ↗

The genetic framework for development of nephrolithiasisSemantic proximity Read ↗

Kidney stone biology: insights from geneticsSemantic proximity Read ↗

[Genetic aspects of urolithiasis].Semantic proximity Read ↗

When to suspect a genetic disorder in a patient with renal stones, and why.Semantic proximity Read ↗

Tubular and genetic disorders associated with kidney stones.Semantic proximity Read ↗

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary TractSemantic proximity Read ↗

Beyond the Kidney: Extra-Renal Manifestations of Monogenic Nephrolithiasis and Their SignificanceSemantic proximity Read ↗

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