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

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.

Nephrology (Carlton, Vic.) - 1 Apr 2014

Musetti Claudio, Quaglia Marco, Mellone Simona, Pagani Alessia, Fusco Ileana, Monzani Alice, Giordano Mara, Stratta Piero

Abstract excerpt

BACKGROUND: HNF1B gene mutations might be an underdiagnosed cause of nephropathy in adult patients mainly because of their pleomorphic clinical presentations. As most studies are based on paediatric populations, it is difficult to assess the likelihood of finding HNF1B mutations in adult patients and consequently define clinical settings in which genetic analysis is indicated. The aim of this study was the search...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepatocyte Nuclear Factor 1-beta

Share to Kidney

Share to Kidney Failure, Chronic

Share to Prognosis

Share to Young Adult

Source

Identifiers

PMID: 24387224
DOI: 10.1111/nep.12199

Variants

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

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.PMID 24387224Read ↗

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Semantic proximity Read ↗

Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Semantic proximity Read ↗

Variable phenotype and genotype of pediatric patients with HNF1B nephropathy.Semantic proximity Read ↗

HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood RegistrySemantic proximity Read ↗

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tractSemantic proximity Read ↗

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.Semantic proximity Read ↗

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully ExploredSemantic proximity Read ↗

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.Semantic proximity Read ↗

[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].Semantic proximity Read ↗

A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal FailureSemantic proximity Read ↗

Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is LimitedSemantic proximity Read ↗

HNF1B-associated clinical phenotypes: the kidney and beyond.Semantic proximity Read ↗

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