Literature DB >> 26690531

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

George A Tanteles1, Michael Nicolaou, Vassos Neocleous, Christos Shammas, Maria A Loizidou, Angelos Alexandrou, Elena Ellina, Nasia Patsia, Carolina Sismani, Leonidas A Phylactou, Violetta Christophidou-Anastasiadou.   

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Year:  2015        PMID： 26690531     DOI： 10.1007/s12041-015-0564-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  23 in total

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

Authors:  H Seki; T Kubota; S Ikegawa; N Haga; F Fujioka; S Ohzeki; K Wakui; H Yoshikawa; K Takaoka; Y Fukushima
Journal:  Am J Med Genet       Date:  2001-02-15

2.  Genotype-phenotype correlation in hereditary multiple exostoses.

Authors:  C Francannet; A Cohen-Tanugi; M Le Merrer; A Munnich; J Bonaventure; L Legeai-Mallet
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

3.  The genotype-phenotype correlation of hereditary multiple exostoses.

Authors:  C Alvarez; S Tredwell; M De Vera; M Hayden
Journal:  Clin Genet       Date:  2006-08       Impact factor: 4.438

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

Authors:  J V Bovée; A M Cleton-Jansen; W Wuyts; G Caethoven; A H Taminiau; E Bakker; W Van Hul; C J Cornelisse; P C Hogendoorn
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Mutation analysis of hereditary multiple exostoses in the Chinese.

Authors:  L Xu; J Xia; H Jiang; J Zhou; H Li; D Wang; Q Pan; Z Long; C Fan; H X Deng
Journal:  Hum Genet       Date:  1999 Jul-Aug       Impact factor: 4.132

6.  Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.

Authors:  Elena Pedrini; Ivy Jennes; Morena Tremosini; Annamaria Milanesi; Marina Mordenti; Alessandro Parra; Federica Sgariglia; Monia Zuntini; Laura Campanacci; Nicola Fabbri; Elettra Pignotti; Wim Wuyts; Luca Sangiorgi
Journal:  J Bone Joint Surg Am       Date:  2011-12-21       Impact factor: 5.284

7.  Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.

Authors:  Mihailo Vujic; Annika Bergman; Bertil Romanus; Jan Wahlström; Tommy Martinsson
Journal:  Int J Mol Med       Date:  2004-01       Impact factor: 4.101

8.  The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions.

Authors:  Liesbeth Hameetman; Karoly Szuhai; Ayse Yavas; Jeroen Knijnenburg; Mark van Duin; Herman van Dekken; Antonie H M Taminiau; Anne-Marie Cleton-Jansen; Judith V M G Bovée; Pancras C W Hogendoorn
Journal:  J Natl Cancer Inst       Date:  2007-03-07       Impact factor: 13.506

9.  Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

Authors:  Ivy Jennes; Danielle de Jong; Kirsten Mees; Pancras C W Hogendoorn; Karoly Szuhai; Wim Wuyts
Journal:  BMC Med Genet       Date:  2011-06-26       Impact factor: 2.103

10.  Mechanisms for human genomic rearrangements.

Authors:  Wenli Gu; Feng Zhang; James R Lupski
Journal:  Pathogenetics       Date:  2008-11-03
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  4 in total

1.  Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.

Authors:  Guangzhi Yuan; Qiang Su; Wenjun Liao; Wei Hou; Linke Huang; Peng Wang; Huayu Wu
Journal:  Biomed Res Int       Date:  2021-08-06       Impact factor: 3.411

2.  Differences in molecular regulation between osteochondroma and bizarre parosteal osteochondromatous proliferation.

Authors:  Xinrong Zhou; Lihui Deng; Xinsheng Han; Yi Chen; Jiao Wang; Shengnan Du
Journal:  Mol Med Rep       Date:  2017-05-25       Impact factor: 2.952

3.  A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

Authors:  Steven G Friedenberg; Daniella Vansteenkiste; Oriana Yost; Amy E Treeful; Kathryn M Meurs; Debra A Tokarz; Natasha J Olby
Journal:  J Vet Intern Med       Date:  2018-02-27       Impact factor: 3.333

4.  Rib Exostoses Presenting as Mediastinal Masses: A Rare Presentation and Minireview of the Literature.

Authors:  Doina Butcovan; Veronica Mocanu; Raluca Ecaterina Haliga; Dana Baran; Carmen Ungureanu; Ştefana Carp; Grigore Tinică
Journal:  Case Rep Med       Date:  2020-01-09
  4 in total

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