Literature DB >> 3222210

Bone dysplasia 'families'.

J Spranger1.   

Abstract

Bone dysplasia families are recognized by distinct patterns of radiographic changes. These patterns are understood as manifestations of distinct pathogenetic processes. The concept is evident in dysostosis multiplex and in osteogenesis imperfecta and is hypothetical in other families. The concept may aid in the diagnostic classification and pathogenetic elucidation of individual bone dysplasias.

Entities:  

Mesh：

Year:  1988        PMID： 3222210     DOI： 10.1159/000157098

Source DB:  PubMed          Journal:  Pathol Immunopathol Res        ISSN： 0257-2761


  10 in total

Review 1.  Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.

Authors:  J Spranger
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

2.  The natural history and osteodystrophy of mucolipidosis types II and III.

Authors:  Grace David-Vizcarra; Julie Briody; Jenny Ault; Michael Fietz; Janice Fletcher; Ravi Savarirayan; Meredith Wilson; Jim McGill; Matthew Edwards; Craig Munns; Melanie Alcausin; Sara Cathey; David Sillence
Journal:  J Paediatr Child Health       Date:  2010-03-29       Impact factor: 1.954

Review 3.  Systematic evaluation of bone dysplasias by the paediatric radiologist.

Authors:  Alan E Oestreich
Journal:  Pediatr Radiol       Date:  2010-04-30

Review 4.  The type II collagenopathies: a spectrum of chondrodysplasias.

Authors:  J Spranger; A Winterpacht; B Zabel
Journal:  Eur J Pediatr       Date:  1994-02       Impact factor: 3.183

5.  Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

Authors:  M J Trujillo-Tiebas; M Fenollar-Cortés; I Lorda-Sánchez; J Díaz-Recasens; A Carrillo Redondo; C Ramos-Corrales; C Ayuso
Journal:  J Assist Reprod Genet       Date:  2009-09-30       Impact factor: 3.412

6.  A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Authors:  L Bonafé; J Hästbacka; A de la Chapelle; A B Campos-Xavier; C Chiesa; A Forlino; A Superti-Furga; A Rossi
Journal:  J Med Genet       Date:  2008-08-15       Impact factor: 6.318

7.  Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Authors:  W A Horton; M A Machado; J Ellard; D Campbell; J Bartley; F Ramirez; E Vitale; B Lee
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

8.  Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.

Authors:  Matthew P Leighton; Seema Nundlall; Tobias Starborg; Roger S Meadows; Farhana Suleman; Lynette Knowles; Raimund Wagener; David J Thornton; Karl E Kadler; Raymond P Boot-Handford; Michael D Briggs
Journal:  Hum Mol Genet       Date:  2007-05-21       Impact factor: 6.150

Review 9.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

10.  The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

Authors:  W G Cole; R K Hall; J G Rogers
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318
  10 in total

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