Literature DB >> 11260231

Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.

J T Hecht, S H Blanton, S Broussard, A Scott, C Rhoades Hall, J M Milunsky.   

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Year:  2001        PMID： 11260231     DOI： 10.1034/j.1399-0004.2001.590310.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.

Authors:  S Simsek; K Janssens; M L Kwee; W Van Hul; J Veenstra; J C Netelenbos
Journal:  Osteoporos Int       Date:  2005-06-16       Impact factor: 4.507

Review 2.  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

3.  Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

Authors:  Michael P Whyte; William G Totty; Deborah V Novack; Xiafang Zhang; Deborah Wenkert; Steven Mumm
Journal:  J Bone Miner Res       Date:  2011-05       Impact factor: 6.741

4.  Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

Authors:  Peng Xie; Jian-Min Huang; Huan-Li Li; Xiao-Jie Huang; Ling-Ge Wei
Journal:  Medicine (Baltimore)       Date:  2017-07       Impact factor: 1.889

5.  The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.

Authors:  Seo-Jin Park; Choon Sik Yoon; Hui-Wan Park; Jong Rak Choi; Jong Shin Chung; Kyung-A Lee
Journal:  J Korean Med Sci       Date:  2009-07-30       Impact factor: 2.153

6.  Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

Authors:  Christian Stoll; Senait Mengsteab; Doris Stoll; Dieter Riediger; Axel M Gressner; Ralf Weiskirchen
Journal:  BMC Med Genet       Date:  2004-06-22       Impact factor: 2.103

7.  TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation.

Authors:  Yi Tang; Xiangwei Wu; Weiqi Lei; Lijuan Pang; Chao Wan; Zhenqi Shi; Ling Zhao; Timothy R Nagy; Xinyu Peng; Junbo Hu; Xu Feng; Wim Van Hul; Mei Wan; Xu Cao
Journal:  Nat Med       Date:  2009-07-05       Impact factor: 53.440
  7 in total

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