Literature DB >> 8819367

C. John Hodson Lecture. Reflections on epiphyseal dysplasias.

F N Silverman1.   

Abstract

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Year:  1996        PMID： 8819367     DOI： 10.2214/ajr.167.4.8819367

Source DB:  PubMed          Journal:  AJR Am J Roentgenol        ISSN： 0361-803X            Impact factor:   3.959


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  4 in total

1.  COL9A3: A third locus for multiple epiphyseal dysplasia.

Authors:  P Paassilta; J Lohiniva; S Annunen; J Bonaventure; M Le Merrer; L Pai; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  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

Review 3.  Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

Authors:  Ugo E Pazzaglia; Giampiero Beluffi; Antonietta Marchi; Mauro Bozzola; Salvatore Savasta; Giovanni Bonaspetti
Journal:  Pediatr Radiol       Date:  2007-07-26

4.  Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

Authors:  Taifeng Zhou; Yongqian Wang; Hang Zhou; Zhiheng Liao; Bo Gao; Deying Su; Shuhui Zheng; Caixia Xu; Peiqiang Su
Journal:  BMC Med Genet       Date:  2018-05-03       Impact factor: 2.103
  4 in total

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