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Journal Abstract Search

197 related items for PubMed ID: 25565925

  • 1. Common somatic alterations identified in maffucci syndrome by molecular karyotyping.
    Amyere M, Dompmartin A, Wouters V, Enjolras O, Kaitila I, Docquier PL, Godfraind C, Mulliken JB, Boon LM, Vikkula M.
    Mol Syndromol; 2014 Dec; 5(6):259-67. PubMed ID: 25565925
    [Abstract] [Full Text] [Related]

  • 2. Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.
    Pansuriya TC, Oosting J, Verdegaal SH, Flanagan AM, Sciot R, Kindblom LG, Hogendoorn PC, Szuhai K, Bovée JV.
    Genes Chromosomes Cancer; 2011 Sep; 50(9):673-9. PubMed ID: 21584901
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  • 3. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
    Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV.
    Nat Genet; 2011 Nov 06; 43(12):1256-61. PubMed ID: 22057234
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  • 5. Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.
    Akiyama M, Yamaoka M, Mikami-Terao Y, Ohyama W, Yokoi K, Arakawa Y, Takita J, Suzuki H, Yamada H.
    Int J Hematol; 2015 Dec 06; 102(6):723-8. PubMed ID: 26508204
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  • 7. Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.
    Nejo T, Tanaka S, Ikemura M, Nomura M, Takayanagi S, Shin M, Ushiku T, Shibahara J, Saito N, Mukasa A.
    J Neurosurg; 2019 Dec 01; 131(6):1829-1834. PubMed ID: 30579273
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  • 8. Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.
    Hirabayashi S, Seki M, Hasegawa D, Kato M, Hyakuna N, Shuo T, Kimura S, Yoshida K, Kataoka K, Fujii Y, Shiraishi Y, Chiba K, Tanaka H, Kiyokawa N, Miyano S, Ogawa S, Takita J, Manabe A.
    Pediatr Blood Cancer; 2017 Dec 01; 64(12):. PubMed ID: 28544751
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  • 10. Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
    Hao S, Hong CS, Feng J, Yang C, Chittiboina P, Zhang J, Zhuang Z.
    J Neurosurg; 2016 Jun 01; 124(6):1562-7. PubMed ID: 26473790
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  • 12. Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.
    Sun Y, Fan X, Rao Y, Wang Z, Wang D, Yang X, Zheng L, Wen M, Cai R, Su L.
    Hereditas; 2022 Jan 18; 159(1):4. PubMed ID: 35042566
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  • 15. PTHR1 mutations associated with Ollier disease result in receptor loss of function.
    Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.
    Hum Mol Genet; 2008 Sep 15; 17(18):2766-75. PubMed ID: 18559376
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  • 16. Update on the imaging features of the enchondromatosis syndromes.
    Sharif B, Lindsay D, Saifuddin A.
    Skeletal Radiol; 2022 Apr 15; 51(4):747-762. PubMed ID: 34302201
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  • 17. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
    Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM.
    Nat Genet; 2011 Nov 06; 43(12):1262-5. PubMed ID: 22057236
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  • 19. IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
    Chen C, Li J, Jiang T, Tang J, Zhang Z, Luo Y, Wang X, Sun K, Jiang Z, Zhou J, Liu Z.
    Diagnostics (Basel); 2022 Nov 11; 12(11):. PubMed ID: 36428825
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