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Fibrodysplasia ossificans progressiva.
Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM. Kaplan FS, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):191-205. doi: 10.1016/j.berh.2007.11.007. Best Pract Res Clin Rheumatol. 2008. PMID: 18328989 Free PMC article. Review.
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. Kaplan FS, et al. Genet Couns. 2008;19(3):357-9; author reply 361-3. Genet Couns. 2008. PMID: 18990993 No abstract available.
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. el Ghouzzi V, et al. Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42. Nat Genet. 1997. PMID: 8988167
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ. Briggs TA, et al. Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217755 Free PMC article.
328 results