Literature DB >> 14041042

Osteopetrosis acro-osteolytica. A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull.

L ANDREN, J F DYMLING, K E HOGEMAN, B WENDEBERG.   

Abstract

Entities:  

Keywords:  CRANIOSYNOSTOSES; DISEASES IN TWINS; FOOT DISEASES; HAND DEFORMITIES; OSTEOPETROSIS

Mesh：

Year:  1962        PMID： 14041042

Source DB:  PubMed          Journal:  Acta Chir Scand        ISSN： 0001-5482


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  10 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

Review 2.  Vacuolar hydrolysis and efflux: current knowledge and unanswered questions.

Authors:  Katherine R Parzych; Daniel J Klionsky
Journal:  Autophagy       Date:  2018-11-22       Impact factor: 16.016

3.  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

4.  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

5.  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

6.  Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis.

Authors:  D C Aronson; H S Heymans; R P Bijlmer
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

7.  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

8.  Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems.

Authors:  Hossein Aghili; Seyed Mohammad Ali Tabatabaei; Mahdjoube Goldani Moghadam
Journal:  Case Rep Dent       Date:  2017-11-26

9.  Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy.

Authors:  Saurabh Kamat; Kannan Sankar; Natt Janakiraman Eswari; Vikas Gahlawat; Bernard Nithin Joseph Jude; Anjna Negi
Journal:  J Nat Sci Biol Med       Date:  2015 Jul-Dec

10.  Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Authors:  Alessandra Pangrazio; Alessandro Puddu; Manuela Oppo; Maria Valentini; Luca Zammataro; Ashok Vellodi; Blanca Gener; Isabel Llano-Rivas; Jamal Raza; Irum Atta; Paolo Vezzoni; Andrea Superti-Furga; Anna Villa; Cristina Sobacchi
Journal:  Bone       Date:  2013-11-20       Impact factor: 4.398
  10 in total

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