Literature DB >> 13991956

Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis.

B J SCHMIDT, W BECAK, M L BECAK, I SOIBELMAN, A S da QUEIROZ, A P LORGA, F SECAF, C F ANTONIO, A A de CARVALHO.   

Abstract

Entities:  

Keywords:  BONE DISEASES

Mesh:

Year:  1963        PMID: 13991956     DOI: 10.1016/s0022-3476(63)80308-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  11 in total

1.  METAPHYSIAL DYSOSTOSIS, TYPE SCHMID.

Authors:  C E DENT; I C NORMAND
Journal:  Arch Dis Child       Date:  1964-10       Impact factor: 3.791

2.  The spondylometaphyseal dysplasias. A tentative classification.

Authors:  P Maroteaux; J Spranger
Journal:  Pediatr Radiol       Date:  1991

3.  COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Authors:  S Matsubayashi; M Ikema; Y Ninomiya; K Yamaguchi; S Ikegawa; G Nishimura
Journal:  Mol Syndromol       Date:  2013-01-30

4.  [Dysplasia metaphysaria, type Vaandrager-Pena].

Authors:  K Kozlowski; B Sikorska
Journal:  Z Kinderheilkd       Date:  1970

5.  Chromosome abnormalities in early spontaneous abortions.

Authors:  D T Arakaki; S H Waxman
Journal:  J Med Genet       Date:  1970-06       Impact factor: 6.318

Review 6.  Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.

Authors:  R S Lachman; D L Rimoin; J Spranger
Journal:  Pediatr Radiol       Date:  1988

7.  Micromelic type of spondylo-meta-epiphyseal dysplasia.

Authors:  K Kozlowski
Journal:  Pediatr Radiol       Date:  1974-04-05

8.  Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.

Authors:  S H Roberts; D P Duckett
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

9.  Partial trisomy 16 as a result of familial 16;20 translocation.

Authors:  E V Davison; J R Beesley
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

10.  A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance.

Authors:  J M García-Castro; C M Isales-Forsythe; P Díaz de Garau
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

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