Literature DB >> 10691412

Molecular diagnosis is important to confirm suspected pseudoachondroplasia.

B Newman, D Donnah, M D Briggs.   

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Year:  2000        PMID： 10691412      PMCID： PMC1734440          DOI： 10.1136/jmg.37.1.64

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  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 2.  COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Authors:  Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs
Journal:  Eur J Hum Genet       Date:  2005-05       Impact factor: 4.246

3.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878

4.  Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation.

Authors:  Chongjuan Gu; Zhao Yang; Hao Tan; Yingying Zhang; Yilu Lu; Yongxin Ma
Journal:  Biomed Res Int       Date:  2017-08-27       Impact factor: 3.411
  4 in total

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