Outi M. Makitie
Helsinki, Finland
Last Updated: 09/26/2026
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Found 22 publications
The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.
Journal: Nature reviews. Endocrinology
Published: April 30, 2026
Bone fragility and osteoporosis in children and young adults.
Journal: Journal of endocrinological investigation
Published: July 05, 2023
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Journal: BMC musculoskeletal disorders
Published: March 27, 2023
An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 2021
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Journal: BMC musculoskeletal disorders
Published: February 18, 2021
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
Journal: Journal of medical genetics
Published: February 20, 2020
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.
Journal: Current osteoporosis reports
Published: June 25, 2017
Causes, mechanisms and management of paediatric osteoporosis.
Journal: Nature reviews. Rheumatology
Published: April 18, 2013
Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study.
Journal: European journal of endocrinology
Published: December 01, 2012
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
Journal: Journal of orthopaedic research : official publication of the Orthopaedic Research Society
Published: September 28, 2010
Last Updated: 09/26/2026