A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients (Q58193453)

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25 December 2019

title

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

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25 December 2019

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25 December 2019

Michele A Rosa

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Bruno Dallapiccola

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Vito Michele Fazio

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25 December 2019

author name string

Emanuela Massi

2

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Maria Giovanna Matera

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Monica Poscente

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Carolina Gravina

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Gianluca Falcone

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Monica Rinaldi

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Wim Wuyts

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Davide Seripa

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publication date

1 May 2007

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Genes, Chromosomes and Cancer

25 December 2019

published in

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volume

46

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issue

5

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page(s)

470-477

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Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations

25 December 2019

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

The genotype-phenotype correlation of hereditary multiple exostoses

1 reference

7 January 2021

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

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7 January 2021

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity

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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

7 January 2021

Genotype-phenotype correlation in hereditary multiple exostoses

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7 January 2021

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

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7 January 2021

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

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7 January 2021

Hereditary multiple exostoses.

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Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis

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7 January 2021

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

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7 January 2021

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

1 reference

7 January 2021

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

1 reference

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

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

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7 January 2021

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

1 reference

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

The neoplastic pathogenesis of solitary and multiple osteochondromas

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The natural history of hereditary multiple exostoses

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7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 January 2021

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

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7 January 2021

A somatic mutation in the 5'UTR of BRCA1 gene in sporadic breast cancer causes down-modulation of translation efficiency.

1 reference

7 January 2021

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

1 reference

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

7 January 2021

Identification of novel mutations in the human EXT1 tumor suppressor gene

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/GCC.20429

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25 December 2019

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