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

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.

Annals of human genetics - 1 Jan 2005

Dunston J A, Lin S, Park J W, Malbroux M, McIntosh I

Abstract excerpt

The genetic bases underlying the range and severity of phenotypes in Mendelian disorders is poorly understood; however, improvements in this area have the potential to facilitate analysis of oligogenic disorders. The nail dysplasia observed in Nail Patella Syndrome (NPS) was selected as a quantifiable variable within a Mendelian disorder, for which data could be readily obtained, to allow investigation of the...

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 Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Haplotypes

Share to Homeodomain Proteins

Share to LIM-Homeodomain Proteins

Share to Nails, Malformed

Share to Transcription Factors

Source

Identifiers

PMID: 15638822
DOI: 10.1046/j.1529-8817.2004.00133.x

Genes

NPS

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

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.PMID 15638822Read ↗

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.Semantic proximity Read ↗

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manSemantic proximity Read ↗

Nail patella syndrome: a review of the phenotype aided by developmental biology.Semantic proximity Read ↗

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.Semantic proximity Read ↗

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Semantic proximity Read ↗

Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.Semantic proximity Read ↗

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.Semantic proximity Read ↗

[From gene to disease; the nail-patella syndrome and the LMX1B gene].Semantic proximity Read ↗

Mutation analysis of LMX1B gene in nail-patella syndrome patients.Semantic proximity Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.Semantic proximity Read ↗

Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese FamilySemantic proximity Read ↗

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