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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1980 1
1987 1
1992 4
1993 4
1994 1
1995 2
1997 2
1998 1
1999 1
2000 3
2001 4
2002 3
2003 6
2004 5
2005 11
2006 5
2007 14
2008 13
2009 12
2010 12
2011 21
2012 25
2013 22
2014 20
2015 20
2016 17
2017 38
2018 31
2019 23
2020 27
2021 37
2022 23
2023 22
2024 7

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382 results

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Page 1
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: makitie o. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427
Early-Onset Osteoporosis.
Mäkitie O, Zillikens MC. Mäkitie O, et al. Calcif Tissue Int. 2022 May;110(5):546-561. doi: 10.1007/s00223-021-00885-6. Epub 2021 Jul 8. Calcif Tissue Int. 2022. PMID: 34236445 Free PMC article. Review.
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.
Munns CF, Shaw N, Kiely M, Specker BL, Thacher TD, Ozono K, Michigami T, Tiosano D, Mughal MZ, Mäkitie O, Ramos-Abad L, Ward L, DiMeglio LA, Atapattu N, Cassinelli H, Braegger C, Pettifor JM, Seth A, Idris HW, Bhatia V, Fu J, Goldberg G, Sävendahl L, Khadgawat R, Pludowski P, Maddock J, Hyppönen E, Oduwole A, Frew E, Aguiar M, Tulchinsky T, Butler G, Högler W. Munns CF, et al. Among authors: makitie o. J Clin Endocrinol Metab. 2016 Feb;101(2):394-415. doi: 10.1210/jc.2015-2175. Epub 2016 Jan 8. J Clin Endocrinol Metab. 2016. PMID: 26745253 Free PMC article. Review.
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Among authors: makitie o. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Among authors: makitie o. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
Cartilage-hair hypoplasia.
Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I. Mäkitie O, et al. J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39. J Med Genet. 1995. PMID: 7897625 Free PMC article. Review. No abstract available.
An atlas of genetic determinants of forearm fracture.
Nethander M, Movérare-Skrtic S, Kämpe A, Coward E, Reimann E, Grahnemo L, Borbély É, Helyes Z, Funck-Brentano T, Cohen-Solal M, Tuukkanen J, Koskela A, Wu J, Li L, Lu T, Gabrielsen ME; Estonian Biobank Research Team; Mägi R, Hoff M, Lerner UH, Henning P, Ullum H, Erikstrup C, Brunak S; DBDS Genomic Consortium; Langhammer A, Tuomi T, Oddsson A, Stefansson K, Pettersson-Kymmer U, Ostrowski SR, Pedersen OBV, Styrkarsdottir U, Mäkitie O, Hveem K, Richards JB, Ohlsson C. Nethander M, et al. Among authors: makitie o. Nat Genet. 2023 Nov;55(11):1820-1830. doi: 10.1038/s41588-023-01527-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919453 Free PMC article.
New Insights Into Monogenic Causes of Osteoporosis.
Mäkitie RE, Costantini A, Kämpe A, Alm JJ, Mäkitie O. Mäkitie RE, et al. Among authors: makitie o. Front Endocrinol (Lausanne). 2019 Feb 25;10:70. doi: 10.3389/fendo.2019.00070. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 30858824 Free PMC article. Review.
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.
Bergen DJM, Maurizi A, Formosa MM, McDonald GLK, El-Gazzar A, Hassan N, Brandi ML, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G. Bergen DJM, et al. Among authors: makitie o. J Bone Miner Res. 2023 Feb;38(2):229-247. doi: 10.1002/jbmr.4715. Epub 2022 Oct 21. J Bone Miner Res. 2023. PMID: 36161343 Free PMC article. Review.
SGMS2 in primary osteoporosis with facial nerve palsy.
Pihlström S, Richardt S, Määttä K, Pekkinen M, Olkkonen VM, Mäkitie O, Mäkitie RE. Pihlström S, et al. Among authors: makitie o. Front Endocrinol (Lausanne). 2023 Oct 11;14:1224318. doi: 10.3389/fendo.2023.1224318. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37886644 Free PMC article. Review.
382 results