(Q37610056)

21 August 2017

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title

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). (English)

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21 August 2017

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Ivy Jennes

1

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21 August 2017

Elena Pedrini

2

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21 August 2017

Monia Zuntini

3

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21 August 2017

Marina Mordenti

4

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21 August 2017

Sahila Balkassmi

5

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21 August 2017

Carla G Asteggiano

6

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21 August 2017

Brett Casey

7

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21 August 2017

Bert Bakker

8

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21 August 2017

Luca Sangiorgi

9

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21 August 2017

Wim Wuyts

10

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21 August 2017

publication date

1 December 2009

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21 August 2017

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21 August 2017

volume

30

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21 August 2017

issue

12

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21 August 2017

page(s)

1620-1627

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Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

21 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The genotype-phenotype correlation of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Evaluation of the Anatomic Burden of Patients with Hereditary Multiple Exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The glypican Dally-like is required for Hedgehog signalling in the embryonic epidermis of Drosophila.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Order out of chaos: assembly of ligand binding sites in heparan sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Genotype-phenotype correlation in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Hereditary multiple exostoses.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mammalian Brain Morphogenesis and Midline Axon Guidance Require Heparan Sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

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 o

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Indian hedgehog: its roles and regulation in endochondral bone development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

A gene for hereditary multiple exostoses maps to chromosome 19p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Axon sorting in the optic tract requires HSPG synthesis by ext2 (dackel) and extl3 (boxer).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Natural history study of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Genomic organization and promoter structure of the human EXT1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

New perspectives on the molecular basis of hereditary bone tumours.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The natural history of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Distinct tissue-specificity of three zebrafish ext1 genes encoding proteoglycan modifying enzymes and their relationship to somitic Sonic hedgehog signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mice deficient in Ext2 lack heparan sulfate and develop exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Positional cloning of a gene involved in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Mutation analysis of hereditary multiple exostoses in the Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21123

7 January 2021

Identifiers

DOI

10.1002/HUMU.21123

1 reference

21 August 2017

1 reference