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

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

Genes, chromosomes & cancer - 1 May 2007

Signori Emanuela, Massi Emanuela, Matera Maria Giovanna, Poscente Monica, Gravina Carolina, Falcone Gianluca, Rosa Michele Attilio, Rinaldi Monica, Wuyts Wim, Seripa Davide, Dallapiccola Bruno, Fazio Vito Michele

Abstract excerpt

Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus far been identified as causing the disease, namely EXT1 and EXT2. Various methods to detect mutations in the EXT genes have been used. Here a cohort of 100 MO patients...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Bone Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Neoplasm

Share to Exostosin 1

Share to Exostosin 2

Share to N-Acetylglucosaminyltransferases

Share to Sequence Deletion

Source

Identifiers

PMID: 17301954
DOI: 10.1002/gcc.20429

Genes

EXT1
EXT2

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

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.PMID 17301954Read ↗

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.Semantic proximity Read ↗

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.Semantic proximity Read ↗

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.Semantic proximity Read ↗

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.Semantic proximity Read ↗

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Semantic proximity Read ↗

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.Semantic proximity Read ↗

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.Semantic proximity Read ↗

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromasSemantic proximity Read ↗

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Semantic proximity Read ↗

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.Semantic proximity Read ↗

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.Semantic proximity Read ↗

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