Literature DB >> 3873457

Metachondromatosis. Report of four cases.

G S Bassett, H R Cowell.   

Abstract

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Year:  1985        PMID： 3873457

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN： 0021-9355            Impact factor:   5.284


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  11 in total

1.  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

2.  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 3.  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

4.  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

5.  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

6.  Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Authors:  Liesbeth Hameetman; Judith Vmg Bovée; Antonie Hm Taminiau; Herman M Kroon; Pancras Cw Hogendoorn
Journal:  Hered Cancer Clin Pract       Date:  2004-11-15       Impact factor: 2.857

7.  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

8.  Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.

Authors:  Zi Wang; Yuting Zou; Yu Chen; Yue Chen
Journal:  Medicine (Baltimore)       Date:  2018-04       Impact factor: 1.889

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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