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Year | Number of Results |
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2008 | 2 |
2009 | 1 |
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2015 | 1 |
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A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
Biochem Biophys Res Commun. 2008 Dec 19;377(3):905-9. doi: 10.1016/j.bbrc.2008.10.093. Epub 2008 Oct 24.
Biochem Biophys Res Commun. 2008.
PMID: 18952055
Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.
Chaikuad A, Alfano I, Kerr G, Sanvitale CE, Boergermann JH, Triffitt JT, von Delft F, Knapp S, Knaus P, Bullock AN.
Chaikuad A, et al.
J Biol Chem. 2012 Oct 26;287(44):36990-8. doi: 10.1074/jbc.M112.365932. Epub 2012 Sep 12.
J Biol Chem. 2012.
PMID: 22977237
Free PMC article.
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The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G, Diaz AK, Paugh BS, Rankin SL, Ju B, Li Y, Zhu X, Qu C, Chen X, Zhang J, Easton J, Edmonson M, Ma X, Lu C, Nagahawatte P, Hedlund E, Rusch M, Pounds S, Lin T, Onar-Thomas A, Huether R, Kriwacki R, Parker M, Gupta P, Becksfort J, Wei L, Mulder HL, Boggs K, Vadodaria B, Yergeau D, Russell JC, Ochoa K, Fulton RS, Fulton LL, Jones C, Boop FA, Broniscer A, Wetmore C, Gajjar A, Ding L, Mardis ER, Wilson RK, Taylor MR, Downing JR, Ellison DW, Zhang J, Baker SJ.
Wu G, et al.
Nat Genet. 2014 May;46(5):444-450. doi: 10.1038/ng.2938. Epub 2014 Apr 6.
Nat Genet. 2014.
PMID: 24705251
Free PMC article.
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A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).
Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, Kira J, Fukumaki Y.
Furuya H, et al.
Am J Med Genet A. 2008 Feb 15;146A(4):459-63. doi: 10.1002/ajmg.a.32151.
Am J Med Genet A. 2008.
PMID: 18203193
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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM.
Kaplan FS, et al.
Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868.
Hum Mutat. 2009.
PMID: 19085907
Free PMC article.
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The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases.
Zhang W, Zhang K, Song L, Pang J, Ma H, Shore EM, Kaplan FS, Wang P.
Zhang W, et al.
Bone. 2013 Dec;57(2):386-91. doi: 10.1016/j.bone.2013.09.002. Epub 2013 Sep 17.
Bone. 2013.
PMID: 24051199
Free PMC article.
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Classical and atypical Fibrodysplasia Ossificans Progressiva in India.
Madhuri V, Santhanam M, Sugumar LK, Rajagopal K, Chilbule SK.
Madhuri V, et al.
Ann Hum Genet. 2015 Jul;79(4):245-52. doi: 10.1111/ahg.12112. Epub 2015 Jun 9.
Ann Hum Genet. 2015.
PMID: 26058333
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