scholarly article | Q13442814 |
P2093 | author name string | Xue Wang | |
Qiji Liu | |||
Yaoqin Gong | |||
Lin Li | |||
Xueyuan Heng | |||
Jiangxia Li | |||
Jiaqian Sun | |||
P2860 | cites work | Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis | Q74806877 |
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 | Q79242741 | ||
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 | Q81112118 | ||
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) | Q24308316 | ||
Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family | Q24320291 | ||
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses | Q24538751 | ||
Genetic heterogeneity in families with hereditary multiple exostoses | Q24671570 | ||
Genotype-phenotype correlation in hereditary multiple exostoses | Q24672770 | ||
A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
Mutation analysis of hereditary multiple exostoses in the Chinese | Q28144036 | ||
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes | Q28145024 | ||
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 | Q28252206 | ||
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes | Q28288396 | ||
Positional cloning of a gene involved in hereditary multiple exostoses | Q28294904 | ||
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan | Q30756569 | ||
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses | Q31912740 | ||
Hereditary multiple exostoses. | Q33596753 | ||
The natural history of hereditary multiple exostoses | Q34330009 | ||
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 exostoses | Q34721751 | ||
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 osteochondromas | Q56999467 | ||
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 | Q57199254 | ||
A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients | Q58193453 | ||
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas | Q60679145 | ||
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 | Q62937148 | ||
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses | Q62937182 | ||
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 | ||
P433 | issue | 7 | |
P921 | main subject | osteochondroma | Q2035032 |
P304 | page(s) | 827-832 | |
P577 | publication date | 2012-07-01 | |
P1433 | published in | Genetic Testing and Molecular Biomarkers | Q15753742 |
P1476 | title | Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma | |
P478 | volume | 16 |
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