Associated Papers
Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.
Zhalsanova IZ et al.
International Journal of Molecular Sciences, 2024
Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 2024
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM et al.
American Journal of Medical Genetics. Part A, 2021
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
Hepp N et al.
Calcified Tissue International, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF et al.
European Journal of Medical Research, 2016
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Xue Y et al.
Journal of Dental Research, 2015
Current research on pycnodysostosis.
Turan S
Intractable & Rare Diseases Research, 2014
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Xue Y et al.
Orphanet Journal of Rare Diseases, 2011
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling AF et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Donnarumma M et al.
Human Mutation, 2007
[Pycnodysostosis--common ancestor of some Danish patients. Examination and diagnosis based on molecular genetics].
Haagerup A et al.
Ugeskrift for Laeger, 2002
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
Haagerup A et al.
European Journal of Human Genetics : Ejhg, 2000