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Items: 1 to 20 of 181

1.

Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.

Kaplan FS, Xu M, Feldman G, Brown M, Cho TJ, Choi IH, Connor JM, Delai PL, Economides AN, Glaser DL, Groppe J, Katagiri T, Le Merrer M, Morhart R, Ravazzolo R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Shore EM.

Genet Couns. 2008;19(3):357-9; author reply 361-3. No abstract available.

PMID:
18990993
2.

Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP).

Lucotte G, Lagarde JP; FOP European Research Group.

Genet Couns. 2007;18(3):349-52. No abstract available.

PMID:
18019378
4.

The tale of FOP, NOGGIN and myristoylation: no data, no proof!

Seemann P, Mundlos S.

Genet Couns. 2008;19(3):353-5; author reply 361-3. No abstract available.

PMID:
18990992
5.

A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.

Fontaine K, Sémonin O, Legarde JP, Lenoir G, Lucotte G.

Genet Couns. 2005;16(2):149-54.

PMID:
16080294
6.

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).

Xu MQ, Feldman G, Le Merrer M, Shugart YY, Glaser DL, Urtizberea JA, Fardeau M, Connor JM, Triffitt J, Smith R, Shore EM, Kaplan FS.

Clin Genet. 2000 Oct;58(4):291-8.

PMID:
11076054
7.

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Borcciadi R, Regragui A, Ravazzolo R, Sefiani A.

Clin Rheumatol. 2010 Jan;29(1):119-21. doi: 10.1007/s10067-009-1283-z. Epub 2009 Oct 1.

PMID:
19795179
8.

Genetic abnormalities in fibrodysplasia ossificans progressiva.

Miao J, Zhang C, Wu S, Peng Z, Tania M.

Genes Genet Syst. 2012;87(4):213-9. Review.

9.

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.

Eresen Yazıcıoğlu C, Karatosun V, Kızıldağ S, Ozsoylu D, Kavukçu S.

Gene. 2013 Feb 25;515(2):444-6. doi: 10.1016/j.gene.2012.12.005. Epub 2012 Dec 20.

PMID:
23260810
10.

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.

Carvalho DR, Navarro MM, Martins BJ, Coelho KE, Mello WD, Takata RI, Speck-Martins CE.

Clin Genet. 2010 Feb;77(2):171-6. doi: 10.1111/j.1399-0004.2009.01256.x. Epub 2009 Oct 1.

PMID:
19796185
11.

[Genetic basis for skeletal disease. Establishment of novel treatments for fibrodysplasia ossificans progressiva (FOP)].

Katagiri T.

Clin Calcium. 2010 Aug;20(8):1204-11. doi: CliCa100812041211. Review. Japanese.

PMID:
20675931
12.

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.

Sun Y, Xia W, Jiang Y, Xing X, Li M, Wang O, Zhang H, Hu Y, Liu H, Meng X, Zhou X.

Calcif Tissue Int. 2009 May;84(5):361-5. doi: 10.1007/s00223-009-9235-9. Epub 2009 Mar 20.

PMID:
19300893
13.

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S.

J Hum Genet. 2007;52(5):473-5. Epub 2007 Mar 10.

PMID:
17351709
14.

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.

Am J Med Genet A. 2008 Feb 15;146A(4):459-63. doi: 10.1002/ajmg.a.32151.

PMID:
18203193
15.

Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.

Warman ML.

Am J Med Genet. 2002 Apr 22;109(2):162; author reply 163-4. No abstract available.

PMID:
11977169
16.

Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva.

Takahashi M, Katagiri T, Furuya H, Hohjoh H.

Gene Ther. 2012 Jul;19(7):781-5. doi: 10.1038/gt.2011.193. Epub 2011 Dec 1.

PMID:
22130450
17.

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.

Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868.

18.

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.

Lucotte G, Bathelier C, Mercier G, Gérard N, Lenoir G, Sémonin O, Fontaine K; FOP Consortium. Fibrodysplasia Ossificans Progressiva Consortium.

Genet Couns. 2000;11(4):329-34.

PMID:
11140409
19.

De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

Lin GT, Chang HW, Liu CS, Huang PJ, Wang HC, Cheng YM.

J Hum Genet. 2006;51(12):1083-6. Epub 2006 Nov 1.

PMID:
17077940
20.

A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton.

Kaplan FS, Glaser DL, Pignolo RJ, Shore EM.

Expert Opin Biol Ther. 2007 May;7(5):705-12. Review.

PMID:
17477807

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