Outi Mäkitie

Research interests

Publications

• Nosology of genetic skeletal disorders: 2023 revision

  American Journal of Medical Genetics Part A · 2023 · https://doi.org/10.1002/ajmg.a.63132

• FGF23 and its role in X-linked hypophosphatemia-related morbidity

  Orphanet Journal of Rare Diseases · 2019 · https://doi.org/10.1186/s13023-019-1014-8

• Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

  Nature Reviews Endocrinology · 2018 · https://doi.org/10.1038/s41574-018-0042-0

• Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

  The Journal of Clinical Endocrinology & Metabolism · 2016 · https://doi.org/10.1210/jc.2015-2175

• Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

  Hormone Research in Paediatrics · 2016 · https://doi.org/10.1159/000443136

• Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions

  Journal of Clinical Densitometry · 2014 · https://doi.org/10.1016/j.jocd.2014.01.004

• WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

  New England Journal of Medicine · 2013 · https://doi.org/10.1056/nejmoa1215458

• Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.02.002

• Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome

  Annals of the New York Academy of Sciences · 2011 · https://doi.org/10.1111/j.1749-6632.2011.06349.x

• Decreasing incidence and changing pattern of childhood fractures: A population-based study

  Journal of Bone and Mineral Research · 2010 · https://doi.org/10.1002/jbmr.155

• Maternal Vitamin D Status Determines Bone Variables in the Newborn

  The Journal of Clinical Endocrinology & Metabolism · 2010 · https://doi.org/10.1210/jc.2009-1391

• Glucose Regulation in Young Adults with Very Low Birth Weight

  New England Journal of Medicine · 2007 · https://doi.org/10.1056/nejmoa067187

• Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

  The Journal of Clinical Endocrinology & Metabolism · 2003 · https://doi.org/10.1210/jc.2003-030036

• Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

  Cell · 2001 · https://doi.org/10.1016/s0092-8674(01)00205-7

• Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

  European Journal of Pediatrics · 1993 · https://doi.org/10.1007/bf01956147

Current projects

No projects listed.