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

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

8 Sept 2021

Abstract excerpt

INTRODUCTION: Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected primary hyperoxaluria (PH) or Dent disease (DD) patients genetically unresolved (negative; N) after Sanger analysis of the known genes. Cohorts...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Kidney Stones and Urolithiasis Treatments
Share to Tissue Engineering and Regenerative Medicine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34805638
DOI: 10.1016/j.ekir.2021.08.033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone DiseasePMID 34805638Read ↗

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

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 PhenotypeSemantic proximity Read ↗

Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Semantic proximity Read ↗

Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologistsSemantic proximity Read ↗

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/NephrocalcinosisSemantic proximity Read ↗

Genetic kidney diseases.Semantic proximity Read ↗

Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.Semantic proximity Read ↗

Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.Semantic proximity Read ↗

Genetic testing and personalized treatment for kidney stone formers.Semantic proximity Read ↗

Personalized Intervention in Monogenic Stone Formers.Semantic proximity Read ↗

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary HyperoxaluriaSemantic proximity Read ↗

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisSemantic proximity Read ↗

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