Literature DB >> 12161605

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings.

N H Elçioglu, A Vellodi, C M Hall.   

Abstract

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Year:  2002        PMID： 12161605      PMCID： PMC1735202          DOI： 10.1136/jmg.39.8.603

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Dysosteosclerosis is also caused by TNFRSF11A mutation.

Authors:  Long Guo; Nursel H Elcioglu; Ozge K Karalar; Mert O Topkar; Zheng Wang; Yuma Sakamoto; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2018-03-22       Impact factor: 3.172

Review 2.  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

Review 3.  Osteopetrosis.

Authors:  Zornitza Stark; Ravi Savarirayan
Journal:  Orphanet J Rare Dis       Date:  2009-02-20       Impact factor: 4.123

Review 4.  Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

Authors:  Michael P Whyte; Deborah Wenkert; William H McAlister; Deborah V Novack; Angie R Nenninger; Xiafang Zhang; Margaret Huskey; Steven Mumm
Journal:  J Bone Miner Res       Date:  2010-11       Impact factor: 6.741

5.  A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Authors:  Tarık Kırkgöz; Behzat Özkan; Filiz Hazan; Sezer Acar; Özlem Nalbantoğlu; Beyhan Özkaya; Melike Ataseven Kulalı; Semra Gürsoy; Shiro Ikegawa; Long Guo
Journal:  Front Genet       Date:  2022-06-24       Impact factor: 4.772

6.  A case report of dysosteosclerosis observed from the prenatal period.

Authors:  Kisho Kobayashi; Yusuke Goto; Hiroaki Kise; Hiroaki Kanai; Koji Kodera; Gen Nishimura; Kenji Ohyama; Kanji Sugita; Takayuki Komai
Journal:  Clin Pediatr Endocrinol       Date:  2010-08-31

7.  Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base.

Authors:  Ali Al Kaissi; Georg Kalchhauser; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2008-07-23

Review 8.  The Genetic Architecture of High Bone Mass.

Authors:  Celia L Gregson; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2020-10-29       Impact factor: 5.555
  8 in total

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