Literature DB >> 15633184

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.

Eiji Nakashima, Shiro Ikegawa, Hirofumi Ohashi, Mamori Kimizuka, Gen Nishimura.   

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Year:  2005        PMID： 15633184     DOI： 10.1002/ajmg.a.30481

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Authors:  Vinod Dasa; James R B Eastwood; Michal Podgorski; Heewon Park; Christopher Blackstock; Tetyana Antoshchenko; Piotr Rogala; Tadeusz Bieganski; S Michal Jazwinski; Malwina Czarny-Ratajczak
Journal:  Am J Med Genet A       Date:  2019-02-10       Impact factor: 2.802

2.  Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Authors:  Timo Hinrichs; Andrea Superti-Furga; Wolf-Dieter Scheiderer; Luisa Bonafé; Rolf E Brenner; Thomas Mattes
Journal:  BMC Musculoskelet Disord       Date:  2010-06-03       Impact factor: 2.362

Review 3.  Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

Authors:  Ananya Panda; Shivanand Gamanagatti; Manisha Jana; Arun Kumar Gupta
Journal:  World J Radiol       Date:  2014-10-28

4.  COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.

Authors:  Orly Goldstein; Richard Guyon; Anna Kukekova; Tatyana N Kuznetsova; Susan E Pearce-Kelling; Jennifer Johnson; Gustavo D Aguirre; Gregory M Acland
Journal:  Mamm Genome       Date:  2010-08-05       Impact factor: 2.957

5.  Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).

Authors:  Mitsuhiko Takahashi; Yoshito Matsui; Tomohiro Goto; Gen Nishimura; Shiro Ikegawa; Hirofumi Ohashi; Natsuo Yasui
Journal:  Clin Rheumatol       Date:  2006-01-27       Impact factor: 2.980

6.  Multiple epiphyseal dysplasia.

Authors:  Johanna Dahlqvist; Hanna Orlén; Hans Matsson; Niklas Dahl; Torsten Lönnerholm; Karl-Henrik Gustavson
Journal:  Acta Orthop       Date:  2009-12       Impact factor: 3.717
  6 in total

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