Literature DB >> 13217486

Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling.

W P JACKSON, F ALBRIGHT, G DREWRY, J HANELIN, M I RUBIN.   

Abstract

Entities:  

Keywords:  BONES/diseases; CRANIUM/abnormalities; LEONTIASIS OSSIUM/differential diagnosis; OSTEOPOROSIS/differential diagnosis

Mesh：

Year:  1954        PMID： 13217486     DOI： 10.1001/archinte.1954.00250060005001

Source DB:  PubMed          Journal:  AMA Arch Intern Med        ISSN： 0888-2479


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  17 in total

1.  Multiple epiphysial dysplasia.

Authors:  H BARRIE; C CARTER; J SUTCLIFFE
Journal:  Br Med J       Date:  1958-07-19

2.  Bibliography of human genetics.

Authors:  R P MERICLE
Journal:  Am J Hum Genet       Date:  1956-03       Impact factor: 11.025

3.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

4.  Craniometaphyseal dysplasia (CMD), autosomal dominant form.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 5.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

6.  The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Authors:  P Nürnberg; S Tinschert; M Mrug; J Hampe; C R Müller; E Fuhrmann; H S Braun; A Reis
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

7.  A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Authors:  I-Ping Chen; Liping Wang; Xi Jiang; Hector Leonardo Aguila; Ernst J Reichenberger
Journal:  Hum Mol Genet       Date:  2010-12-13       Impact factor: 6.150

8.  Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia.

Authors:  I-Ping Chen; Keiichi Fukuda; Noemi Fusaki; Akihiro Iida; Mamoru Hasegawa; Alexander Lichtler; Ernst J Reichenberger
Journal:  Cell Reprogram       Date:  2013-11-12       Impact factor: 1.987

Review 9.  The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors:  Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

10.  Osteodysplasty (Melnick and Needles syndrome). Report of a case.

Authors:  F Coste; P Maroteaux; L Chouraki
Journal:  Ann Rheum Dis       Date:  1968-07       Impact factor: 19.103
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