Literature DB >> 14470123

[Pyknodysostosis].

P MAROTEAUX, M LAMY.   

Abstract

Entities:  

Keywords:  BONE DISEASES/in infancy and childhood

Mesh：

Year:  1962        PMID： 14470123

Source DB:  PubMed          Journal:  Presse Med        ISSN： 0032-7867            Impact factor:   1.228


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  54 in total

1.  Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.

Authors:  W S Hou; D Brömme; Y Zhao; E Mehler; C Dushey; H Weinstein; C S Miranda; C Fraga; F Greig; J Carey; D L Rimoin; R J Desnick; B D Gelb
Journal:  J Clin Invest       Date:  1999-03       Impact factor: 14.808

2.  Current research on pycnodysostosis.

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

Review 3.  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

4.  High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

Authors:  A F Schilling; C Mülhausen; W Lehmann; R Santer; T Schinke; J M Rueger; M Amling
Journal:  Osteoporos Int       Date:  2007-01-06       Impact factor: 4.507

5.  Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome.

Authors:  E Rosenmann; S Penchas; T Cohen; I Aviad
Journal:  Pediatr Radiol       Date:  1977-09-01

Review 6.  Sclerosing bone dysplasias--a target-site approach.

Authors:  A Greenspan
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

7.  Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.

Authors:  Pilar Rovira Martí; Rosendo Ullot Font
Journal:  Int Orthop       Date:  2016-08-25       Impact factor: 3.075

Review 8.  Osteopetrosis.

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

9.  Pycnodysostosis with unusual findings: a case report.

Authors:  Quais Mujawar; Ravi Naganoor; Harsha Patil; Achyut Narayan Thobbi; Sadashiva Ukkali; Naushad Malagi
Journal:  Cases J       Date:  2009-07-23

10.  A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

Authors:  Muhammad Naeem; Sabeen Sheikh; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2009-08-12       Impact factor: 2.103
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