Literature DB >> 9779805

International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone.

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Year:  1998        PMID: 9779805     DOI: 10.1002/(sici)1096-8628(19981012)79:5<376::aid-ajmg9>3.0.co;2-h

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  16 in total

1.  A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authors:  C G Bönnemann; G F Cox; F Shapiro; J J Wu; C A Feener; T G Thompson; D C Anthony; D R Eyre; B T Darras; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  Clinical and radiologic information or photographs.

Authors:  Judith G Hall
Journal:  Pediatr Radiol       Date:  2002-08

3.  Tissue transglutaminase regulates chondrogenesis in mesenchymal stem cells on collagen type XI matrices.

Authors:  Shobana Shanmugasundaram; Sheila Logan-Mauney; Kaitlin Burgos; Maria Nurminskaya
Journal:  Amino Acids       Date:  2011-08-10       Impact factor: 3.520

4.  Gene profiling of the rat medial collateral ligament during early healing using microarray analysis.

Authors:  Connie S Chamberlain; Sabrina H Brounts; David G Sterken; Kevin I Rolnick; Geoffrey S Baer; Ray Vanderby
Journal:  J Appl Physiol (1985)       Date:  2011-05-19

Review 5.  Hypermobility in dance: asset, not liability.

Authors:  E C Foley; H A Bird
Journal:  Clin Rheumatol       Date:  2013-02-17       Impact factor: 2.980

Review 6.  Suspected fetal skeletal malformations or bone diseases: how to explore.

Authors:  Marie Cassart
Journal:  Pediatr Radiol       Date:  2010-04-30

7.  Knee radiography in the diagnosis of skeletal dysplasias.

Authors:  Thomas C Kwee; Frits A Beemer; Frederik J A Beek; Rutger A J Nievelstein
Journal:  Pediatr Radiol       Date:  2005-10-25

8.  A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Authors:  M Czarny-Ratajczak; J Lohiniva; P Rogala; K Kozlowski; M Perälä; L Carter; T D Spector; L Kolodziej; U Seppänen; R Glazar; J Królewski; A Latos-Bielenska; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  2001-09-14       Impact factor: 11.025

9.  Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Authors:  Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2002-08-02       Impact factor: 11.025

10.  Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

Authors:  Katarzyna A Piróg; Michael D Briggs
Journal:  J Biomed Biotechnol       Date:  2010-05-24
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