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Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Jha S, Fratzl-Zelman N, Roschger P, Papadakis GZ, Cowen EW, Kang H, Lehky TJ, Alter K, Deng Z, Ivovic A, Flynn L, Reynolds JC, Dasgupta A, Miettinen M, Lange E, Katz J, Klaushofer K, Marini JC, Siegel RM, Bhattacharyya T. Jha S, et al. Among authors: klaushofer k. J Bone Miner Res. 2019 Jan;34(1):145-156. doi: 10.1002/jbmr.3577. Epub 2018 Sep 14. J Bone Miner Res. 2019. PMID: 30138550 Free PMC article. Clinical Trial.
Somatic activating mutations in MAP2K1 cause melorheostosis.
Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T. Kang H, et al. Among authors: klaushofer k. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z. Nat Commun. 2018. PMID: 29643386 Free PMC article.
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
Fratzl-Zelman N, Roschger P, Kang H, Jha S, Roschger A, Blouin S, Deng Z, Cabral WA, Ivovic A, Katz J, Siegel RM, Klaushofer K, Fratzl P, Bhattacharyya T, Marini JC. Fratzl-Zelman N, et al. Among authors: klaushofer k. J Bone Miner Res. 2019 May;34(5):883-895. doi: 10.1002/jbmr.3656. Epub 2019 Jan 22. J Bone Miner Res. 2019. PMID: 30667555 Free PMC article. Clinical Trial.
Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series.
Fick CN, Fratzl-Zelman N, Roschger P, Klaushofer K, Jha S, Marini JC, Bhattacharyya T. Fick CN, et al. Among authors: klaushofer k. Am J Surg Pathol. 2019 Nov;43(11):1554-1559. doi: 10.1097/PAS.0000000000001310. Am J Surg Pathol. 2019. PMID: 31386640 Free PMC article. Clinical Trial.
361 results