Literature DB >> 12400068

International nosology and classification of constitutional disorders of bone (2001).

Christine M Hall1.   

Abstract

The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups). Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12400068     DOI: 10.1002/ajmg.10828

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


  36 in total

Review 1.  Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?

Authors:  Amaka C Offiah; Christine M Hall
Journal:  Pediatr Radiol       Date:  2002-12-20

Review 2.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

3.  A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.

Authors:  B Isidor; N Dagoneau; C Huber; D Genevieve; B Bader-Meunier; S Blanche; C Picard; M C De Vernejoul; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  Hum Genet       Date:  2007-01-03       Impact factor: 4.132

Review 4.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

Review 5.  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

6.  Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.

Authors:  Anna B Osipovich; Jennifer L Jennings; Qing Lin; Andrew J Link; H Earl Ruley
Journal:  Proc Natl Acad Sci U S A       Date:  2008-10-13       Impact factor: 11.205

7.  A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Authors:  Beyhan Tuysuz; Rebecca Mosig; Gürkan Altun; Selim Sancak; Marc J Glucksman; John A Martignetti
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

Review 8.  Current themes in molecular pediatrics: molecular medicine and its applications.

Authors:  Andrea Superti-Furga; Livia Garavelli
Journal:  Ital J Pediatr       Date:  2010-02-19       Impact factor: 2.638

Review 9.  Infantile osteopetrosis with superimposed rickets.

Authors:  Korcan Aysun Gonen; Zeynep Yazici; Gokhan Gokalp; Ayse Kalyoncu Ucar
Journal:  Pediatr Radiol       Date:  2012-11-14

10.  A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Authors:  Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; Andrea Superti-Furga; Sheila Unger
Journal:  Skeletal Radiol       Date:  2009-03-11       Impact factor: 2.199

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