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    Results: 1 to 20 of 396

    1.

    Sheldon-Hall syndrome.

    Toydemir RM, Bamshad MJ.

    Orphanet J Rare Dis. 2009 Mar 23;4:11. Review.PMID: 19309503 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

    Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB.

    Clin Orthop Relat Res. 2009 May;467(5):1195-200. Epub 2009 Jan 14.PMID: 19142688 [PubMed - indexed for MEDLINE]Related articles

    3.

    Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).

    Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M.

    Am J Med Genet. 1998 Feb 26;76(1):93-8.PMID: 9508073 [PubMed - indexed for MEDLINE]Related articles

    4.

    Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

    Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ.

    Nat Genet. 2006 May;38(5):561-5. Epub 2006 Apr 16.PMID: 16642020 [PubMed - indexed for MEDLINE]Related articles

    5.

    Clinical characteristics and natural history of Freeman-Sheldon syndrome.

    Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ.

    Pediatrics. 2006 Mar;117(3):754-62.PMID: 16510655 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

    Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M.

    Am J Med Genet A. 2006 Dec 15;140(24):2797-801.PMID: 17103435 [PubMed - indexed for MEDLINE]Related articles

    7.

    The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

    Hall JG, Reed SD, Greene G.

    Am J Med Genet. 1982 Feb;11(2):185-239. Review.PMID: 7039311 [PubMed - indexed for MEDLINE]Related articles

    8.

    Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.

    Jiang M, Bian C, Li X, Man X, Ge W, Han W, Bao H, Li Y, Yi D, Guan Y, Li J.

    Prenat Diagn. 2007 May;27(5):468-70.PMID: 17380469 [PubMed - indexed for MEDLINE]Related articles

    9.

    Extending the spectrum of distal arthrogryposis.

    Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG.

    Am J Med Genet. 1996 Nov 11;65(4):286-90.PMID: 8923937 [PubMed - indexed for MEDLINE]Related articles

    10.

    Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

    Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.

    Arch Neurol. 2008 Aug;65(8):1083-90. Erratum in: Arch Neurol. 2008 Dec;65(12):1654. PMID: 18695058 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

    Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

    Neurology. 2006 Aug 22;67(4):597-601.PMID: 16924011 [PubMed - indexed for MEDLINE]Related articles

    12.

    Limb pterygium syndromes: a review and report of eleven patients.

    Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.

    Am J Med Genet. 1982 Aug;12(4):377-409.PMID: 7124793 [PubMed - indexed for MEDLINE]Related articles

    13.

    Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.

    Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS.

    FASEB J. 2007 Mar;21(3):896-905. Epub 2006 Dec 27.PMID: 17194691 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Freeman-Sheldon syndrome. A case report and review of the literature.

    Ferrari D, Bettuzzi C, Donzelli O.

    Chir Organi Mov. 2008 Sep;92(2):127-31. Epub 2008 Aug 1. Review.PMID: 18677448 [PubMed - indexed for MEDLINE]Related articles

    15.

    A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

    Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J.

    Hum Genet. 2006 Sep;120(2):238-42. Epub 2006 Jun 27.PMID: 16802141 [PubMed - indexed for MEDLINE]Related articles

    16.

    Freeman-Sheldon syndrome: report of one case.

    Wu SC, Chang ML.

    Acta Paediatr Taiwan. 2005 Sep-Oct;46(5):314-7.PMID: 16640009 [PubMed - indexed for MEDLINE]Related articles

    17.

    Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.

    Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J.

    Am J Med Genet A. 2006 Sep 1;140A(17):1834-9.PMID: 16892327 [PubMed - indexed for MEDLINE]Related articles

    18.

    Congenital contractural arachnodactyly (Beals syndrome).

    Tunçbilek E, Alanay Y.

    Orphanet J Rare Dis. 2006 Jun 1;1:20. Review.PMID: 16740166 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    [The Freeman-Sheldon Syndrome]

    Aldinger G, Eulert J.

    Z Orthop Ihre Grenzgeb. 1983 Sep-Oct;121(5):630-3. German. PMID: 6649811 [PubMed - indexed for MEDLINE]Related articles

    20.

    Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

    Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.

    Am J Hum Genet. 2003 Mar;72(3):681-90.PMID: 12592607 [PubMed - indexed for MEDLINE]Related articlesFree article

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