Literature DB >> 15103729

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Akira Kinoshita1,2,3, Yasuyuki Fukumaki1, Shuya Shirahama4, Akira Miyahara4, Gen Nishimura5, Nobuhiko Haga6, Atsushi Namba7, Hitoshi Ueda8, Hiromi Hayashi9, Shiro Ikegawa10, Joerg Seidel11, Norio Niikawa2,3, Koh-Ichiro Yoshiura2,3.   

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Year:  2004        PMID： 15103729     DOI： 10.1002/ajmg.a.20671

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.

Authors:  Jonas Bondestam; Mervi K Mäyränpää; Shiro Ikegawa; Eino Marttinen; Heikki Kröger; Outi Mäkitie
Journal:  Clin Rheumatol       Date:  2007-01-06       Impact factor: 2.980

Review 2.  Regulation of postnatal bone homeostasis by TGFβ.

Authors:  Simon Y Tang; Tamara Alliston
Journal:  Bonekey Rep       Date:  2013-01-09

3.  Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

Authors:  S Herrera; R Soriano; X Nogués; R Güerri-Fernandez; D Grinberg; N García-Giralt; N Martínez-Gil; S Castejón; A González-Lizarán; S Balcells; A Diez-Perez
Journal:  Osteoporos Int       Date:  2017-08-25       Impact factor: 4.507

Review 4.  Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Authors:  K Janssens; F Vanhoenacker; M Bonduelle; L Verbruggen; L Van Maldergem; S Ralston; N Guañabens; N Migone; S Wientroub; M T Divizia; C Bergmann; C Bennett; S Simsek; S Melançon; T Cundy; W Van Hul
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

5.  Transforming growth factor beta-1 (TGFB1) and peak bone mass: association between intragenic polymorphisms and quantitative ultrasound of the heel.

Authors:  Peter Tzakas; Betty Y L Wong; Alexander G Logan; Laurence A Rubin; David E C Cole
Journal:  BMC Musculoskelet Disord       Date:  2005-06-14       Impact factor: 2.362
  5 in total

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