Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma

scientific article

Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1089/GTMB.2011.0276
P932PMC publication ID3396001
P698PubMed publication ID22799611

P2093author name stringXue Wang
Qiji Liu
Yaoqin Gong
Lin Li
Xueyuan Heng
Jiangxia Li
Jiaqian Sun
P2860cites workReevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisQ74806877
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 casesQ79242741
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 mutationsQ81112118
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Mutations in the EXT1 and EXT2 genes in hereditary multiple exostosesQ24538751
Genetic heterogeneity in families with hereditary multiple exostosesQ24671570
Genotype-phenotype correlation in hereditary multiple exostosesQ24672770
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesQ28145024
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11Q28252206
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genesQ28288396
Positional cloning of a gene involved in hereditary multiple exostosesQ28294904
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in TaiwanQ30756569
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostosesQ31912740
Hereditary multiple exostoses.Q33596753
The natural history of hereditary multiple exostosesQ34330009
A gene for hereditary multiple exostoses maps to chromosome 19p.Q34333493
Identification and characterization of a novel member of the EXT gene family, EXTL2.Q34454603
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.Q34457807
Natural history study of hereditary multiple exostosesQ34721751
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.Q35644251
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Q37610056
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromasQ56999467
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostosesQ57199254
A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patientsQ58193453
Ext-mutation analysis in Italian sporadic and hereditary osteochondromasQ60679145
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 oQ62937148
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostosesQ62937182
The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?Q70664171
P433issue7
P921main subjectosteochondromaQ2035032
P304page(s)827-832
P577publication date2012-07-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titlePathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma
P478volume16

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