Associated Papers
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M et al.
Journal of Pediatric Genetics, 2022
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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel.
Shalev SA
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
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
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.
Nishi Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
Hou WS et al.
The Journal of Clinical Investigation, 1999
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
Gelb BD et al.
American Journal of Human Genetics, 1998
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Gelb BD et al.
Science (new York, N.y.), 1996