Literature DB >> 1611757

Pycnodysostosis. Orthopedic aspects with a description of 14 new cases.

J G Edelson1, S Obad, R Geiger, A On, H J Artul.   

Abstract

Pycnodysostosis is an uncommon form of osteosclerosing bone disease. The orthopedic aspects are illustrated by 14 new cases.

Entities:  

Mesh：

Year:  1992        PMID： 1611757

Source DB:  PubMed          Journal:  Clin Orthop Relat Res        ISSN： 0009-921X            Impact factor:   4.176


  11 in total

1.  Current research on pycnodysostosis.

Authors:  Serap Turan
Journal:  Intractable Rare Dis Res       Date:  2014-08

2.  Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence.

Authors:  Wei Chen; Shuying Yang; Yoke Abe; Ming Li; Yucheng Wang; Jianzhong Shao; En Li; Yi-Ping Li
Journal:  Hum Mol Genet       Date:  2007-01-08       Impact factor: 6.150

Review 3.  Lumbar spine anomalies in a pycnodysostosis case.

Authors:  J L Beguiristain; F J Arriola; M Leyes
Journal:  Eur Spine J       Date:  1995       Impact factor: 3.134

4.  Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.

Authors:  M Matsushita; H Kitoh; H Kaneko; K Mishima; Y Itoh; T Hattori; N Ishiguro
Journal:  Mol Syndromol       Date:  2012-03-06

5.  Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

Authors:  Margarita Valdes-Flores; Alberto Hidalgo-Bravo; L Casas-Avila; Carmen Chima-Galan; Eric J Hazan-Lasri; Ernesto Pineda-Gomez; Druso Lopez-Estrada; Juan C Zenteno
Journal:  Int J Clin Exp Med       Date:  2014-11-15

6.  Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

Authors:  B D Gelb; J P Willner; T M Dunn; N B Kardon; A Verloes; J Poncin; R J Desnick
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

7.  Cathepsin K Mutation-A Subtle Clinical Presentation.

Authors:  Venkata Sandeep Nandipati; Aaron Chapla; Felix K Jebasingh; Arun Paul Charlu; Thilak Samuel Jepegnanam; Kripa Elizabeth Cherian; Thomas V Paul; Nihal Thomas
Journal:  J Endocr Soc       Date:  2022-07-05

Review 8.  Osteopetrosis.

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

9.  Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice.

Authors:  P Saftig; E Hunziker; O Wehmeyer; S Jones; A Boyde; W Rommerskirch; J D Moritz; P Schu; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

10.  Pyknodysostosis: visceral manifestations and simian crease.

Authors:  Arvind Rup Singh; Anupam Kaur; Nand Kishore Anand; Jai Rup Singh
Journal:  Indian J Pediatr       Date:  2004-05       Impact factor: 1.967
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