Literature DB >> 417609

Dysosteosclerosis.

C S Houston, J W Gerrard, E J Ives.   

Abstract

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Year:  1978        PMID: 417609     DOI: 10.2214/ajr.130.5.988

Source DB:  PubMed          Journal:  AJR Am J Roentgenol        ISSN: 0361-803X            Impact factor:   3.959


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  9 in total

Review 1.  Autosomal recessive osteopetrosis: diagnosis, management, and outcome.

Authors:  C J Wilson; A Vellodi
Journal:  Arch Dis Child       Date:  2000-11       Impact factor: 3.791

Review 2.  Craniotubular bone disorders.

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

3.  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

4.  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 5.  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

6.  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

7.  Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.

Authors:  Serap Turan; Steven Mumm; Ceren Alavanda; Betul Sare Kaygusuz; Busra Gurpinar Tosun; Ahmet Arman; Margaret Huskey; Tulay Guran; Shenghui Duan; Abdullah Bereket; Michael P Whyte
Journal:  JBMR Plus       Date:  2022-07-28

8.  Next-generation sequencing for disorders of low and high bone mineral density.

Authors:  G Sule; P M Campeau; V W Zhang; S C S Nagamani; B C Dawson; M Grover; C A Bacino; V R Sutton; N Brunetti-Pierri; J T Lu; E Lemire; R A Gibbs; D H Cohn; H Cui; L-J Wong; B H Lee
Journal:  Osteoporos Int       Date:  2013-02-27       Impact factor: 4.507

9.  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
  9 in total

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