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

Usefulness of MLPA in the detection of SHOX deletions.

European journal of medical genetics - 1 Jan 2000

Funari Mariana F A, Jorge Alexander A L, Souza Silvia C A L, Billerbeck Ana E C, Arnhold Ivo J P, Mendonca Berenice B, Nishi Mirian Y

Abstract excerpt

SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds of isolated haploinsufficiency; therefore, it is important to determine the most appropriate methodology for detection of gene deletion. In this study, three methodologies for the detection of...

Read the complete abstract on PubMed

Topics

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

Share to Gene Deletion
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Homeodomain Proteins

Share to In Situ Hybridization, Fluorescence

Share to Nucleic Acid Amplification Techniques

Share to Osteochondrodysplasias

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 20538086
DOI: 10.1016/j.ejmg.2010.06.001

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Usefulness of MLPA in the detection of SHOX deletions.PMID 20538086Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

Different approaches in the molecular analysis of the SHOX gene dysfunctions.Semantic proximity Read ↗

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.Semantic proximity Read ↗

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.Semantic proximity Read ↗

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Unexpected phenotype in a boy with trisomy of the SHOX gene.Semantic proximity Read ↗

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Semantic proximity Read ↗

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.Semantic proximity Read ↗

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Semantic proximity Read ↗

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