Literature DB >> 6602353

Metachondromatosis.

L A Kennedy.   

Abstract

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Year:  1983        PMID： 6602353     DOI： 10.1148/radiology.148.1.6602353

Source DB:  PubMed          Journal:  Radiology        ISSN： 0033-8419            Impact factor:   11.105


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  11 in total

1.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

2.  Case report 522: Concurrent adjacent osteochondroma and enchondroma.

Authors:  C S Resnik; A M Levine; S C Aisner; J W Young; H D Dorfman
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

3.  EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Authors:  Neil C Vining; Stephen Done; Ian A Glass; Shawn E Parnell; Darci L Sternen; Kathleen A Leppig; Vincent S Mosca; Michael J Goldberg
Journal:  Skeletal Radiol       Date:  2011-09-04       Impact factor: 2.199

Review 4.  Enchondromatosis: insights on the different subtypes.

Authors:  Twinkal C Pansuriya; Herman M Kroon; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2010-06-26

5.  Metachondromatosis: more than just multiple osteochondromas.

Authors:  Thomas J Fisher; Nicole Williams; Lloyd Morris; Peter J Cundy
Journal:  J Child Orthop       Date:  2013-09-21       Impact factor: 1.548

6.  Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Authors:  Nara L M Sobreira; Elizabeth T Cirulli; Dimitrios Avramopoulos; Elizabeth Wohler; Gretchen L Oswald; Eric L Stevens; Dongliang Ge; Kevin V Shianna; Jason P Smith; Jessica M Maia; Curtis E Gumbs; Jonathan Pevsner; George Thomas; David Valle; Julie E Hoover-Fong; David B Goldstein
Journal:  PLoS Genet       Date:  2010-06-17       Impact factor: 5.917

7.  Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions.

Authors:  Harry K W Kim; Gen-Sheng Feng; Di Chen; Philip D King; Nobuhiro Kamiya
Journal:  J Bone Miner Res       Date:  2014-03       Impact factor: 6.741

8.  Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Authors:  Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos-Xavier; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Valerie Cormier-Daire; Judith V Bovée; Twinkal C Pansuriya; Sérgio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman
Journal:  PLoS Genet       Date:  2011-04-14       Impact factor: 5.917

Review 9.  Multiple osteochondromas.

Authors:  Judith V M G Bovée
Journal:  Orphanet J Rare Dis       Date:  2008-02-13       Impact factor: 4.123

10.  From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.

Authors:  Wentian Yang; Benjamin G Neel
Journal:  Rare Dis       Date:  2013-10-02
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