Literature DB >> 3351684

Treatment of craniometaphyseal dysplasia with calcitriol.

L L Key1, F Volberg, R Baron, C S Anast.   

Abstract

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Year:  1988        PMID： 3351684     DOI： 10.1016/s0022-3476(88)80175-6

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


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  10 in total

1.  Craniometaphyseal Dysplasia: A review and novel oral manifestation.

Authors:  K Martin; S Nathwani; R Bunyan
Journal:  J Oral Biol Craniofac Res       Date:  2017-05-06

2.  A Rare Cause of Recurrent Stroke in a Visually Impaired 10-year-old Girl.

Authors:  Saipraneetha Chindanuru; Rajarajan Paulpandian; Thiagarajan Srinivasan; Venkatesh Chandrasekaran; Barath Jagadisan; Niranjan Biswal; Sunitha Vellathussery Chakkalakkoombil; Ramesh Ananthakrishnan
Journal:  Indian J Pediatr       Date:  2016-09-09       Impact factor: 1.967

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

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

Review 4.  Craniotubular bone disorders.

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

5.  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

6.  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

7.  Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

Authors:  T Yamamoto; N Kurihara; K Yamaoka; K Ozono; M Okada; K Yamamoto; S Matsumoto; T Michigami; J Ono; S Okada
Journal:  J Clin Invest       Date:  1993-01       Impact factor: 14.808

8.  Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

Authors:  I-Ping Chen; Chiachien J Wang; Sara Strecker; Boguslawa Koczon-Jaremko; Adele Boskey; Ernst J Reichenberger
Journal:  J Bone Miner Res       Date:  2009-07       Impact factor: 6.741

9.  Progressive ankylosis protein (ANK) in osteoblasts and osteoclasts controls bone formation and bone remodeling.

Authors:  Hyon Jong Kim; Takeshi Minashima; Edward F McCarthy; Jeffrey A Winkles; Thorsten Kirsch
Journal:  J Bone Miner Res       Date:  2010-08       Impact factor: 6.741

Review 10.  Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Authors:  Taha Faruqi; Naveen Dhawan; Jaya Bahl; Vineet Gupta; Shivani Vohra; Khin Tu; Samir M Abdelmagid
Journal:  Biomed Res Int       Date:  2014-10-22       Impact factor: 3.411
  10 in total

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