Literature DB >> 5750745

[Dysosteosclerosis--a special form of generalized osteosclerosis].

J Spranger, C Albrecht, H J Rohwedder, H R Wiedemann.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5750745

Source DB:  PubMed          Journal:  Fortschr Geb Rontgenstr Nuklearmed        ISSN： 0015-8151


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  13 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Pycnodysostosis. A variant form with visceral manifestations.

Authors:  K Kozlowski; J S Yu
Journal:  Arch Dis Child       Date:  1972-10       Impact factor: 3.791

Review 3.  Craniotubular bone disorders.

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

4.  Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Authors:  Philippe M Campeau; James T Lu; Gautam Sule; Ming-Ming Jiang; Yangjin Bae; Simran Madan; Wolfgang Högler; Nicholas J Shaw; Steven Mumm; Richard A Gibbs; Michael P Whyte; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2012-08-08       Impact factor: 6.150

5.  Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Authors:  Long Guo; Débora Romeo Bertola; Asako Takanohashi; Asuka Saito; Yuko Segawa; Takanori Yokota; Satoru Ishibashi; Yoichiro Nishida; Guilherme Lopes Yamamoto; José Francisco da Silva Franco; Rachel Sayuri Honjo; Chong Ae Kim; Camila Manso Musso; Margaret Timmons; Amy Pizzino; Ryan J Taft; Bryan Lajoie; Melanie A Knight; Kenneth H Fischbeck; Andrew B Singleton; Carlos R Ferreira; Zheng Wang; Li Yan; James Y Garbern; Pelin O Simsek-Kiper; Hirofumi Ohashi; Pamela G Robey; Alan Boyde; Naomichi Matsumoto; Noriko Miyake; Jürgen Spranger; Raphael Schiffmann; Adeline Vanderver; Gen Nishimura; Maria Rita Dos Santos Passos-Bueno; Cas Simons; Kinya Ishikawa; Shiro Ikegawa
Journal:  Am J Hum Genet       Date:  2019-04-11       Impact factor: 11.025

Review 6.  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 7.  Osteopetrosis.

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

8.  X-linked dysosteosclerosis. Four familial cases.

Authors:  I Pascual-Castroviejo; C Casas-Fernandez; V Lopez-Martin; A Martinez-Bermejo
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

Review 9.  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

10.  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
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