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Journal Abstract Search

367 related items for PubMed ID: 24251678

  • 21.
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  • 22. Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
    D'Angelo R, Alafaci C, Scimone C, Ruggeri A, Salpietro FM, Bramanti P, Tomasello F, Sidoti A.
    Biomed Res Int; 2013; 2013():459253. PubMed ID: 24058906
    [Abstract] [Full Text] [Related]

  • 23. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.
    Lucas M, Costa AF, García-Moreno JM, Solano F, Gamero MA, Izquierdo G.
    BMC Neurol; 2003 Jul 23; 3():5. PubMed ID: 12877753
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  • 24. Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.
    Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F.
    Am J Med Genet B Neuropsychiatr Genet; 2007 Jul 05; 144B(5):691-5. PubMed ID: 17440989
    [Abstract] [Full Text] [Related]

  • 25. Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
    Gault J, Sain S, Hu LJ, Awad IA.
    Neurosurgery; 2006 Dec 05; 59(6):1278-84; discussion 1284-5. PubMed ID: 17277691
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  • 28. Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.
    Wang X, Liu XW, Lee N, Liu QJ, Li WN, Han T, Wei KK, Qiao S, Chi ZF.
    Chin Med J (Engl); 2013 Dec 05; 126(18):3427-32. PubMed ID: 24034083
    [Abstract] [Full Text] [Related]

  • 29. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
    Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA.
    Hum Mol Genet; 2009 Mar 01; 18(5):919-30. PubMed ID: 19088123
    [Abstract] [Full Text] [Related]

  • 30. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
    Scimone C, Bramanti P, Ruggeri A, Donato L, Alafaci C, Crisafulli C, Mucciardi M, Rinaldi C, Sidoti A, D'Angelo R.
    BMC Med Genet; 2016 Oct 13; 17(1):74. PubMed ID: 27737651
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  • 31. Mutational analysis of 206 families with cavernous malformations.
    Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M.
    J Neurosurg; 2003 Jul 13; 99(1):38-43. PubMed ID: 12854741
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  • 32.
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  • 33. Cerebral cavernous malformation: new molecular and clinical insights.
    Revencu N, Vikkula M.
    J Med Genet; 2006 Sep 13; 43(9):716-21. PubMed ID: 16571644
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  • 34.
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  • 35. Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations.
    Zhu Y, Wu Q, Xu JF, Miller D, Sandalcioglu IE, Zhang JM, Sure U.
    Neurosurg Focus; 2010 Sep 13; 29(3):E1. PubMed ID: 20809750
    [Abstract] [Full Text] [Related]

  • 36. Molecular diagnosis in cerebral cavernous malformations.
    Mondejar R, Lucas M.
    Neurologia; 2017 Oct 13; 32(8):540-545. PubMed ID: 26304651
    [Abstract] [Full Text] [Related]

  • 37. CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.
    Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, Sure U, Felbor U.
    Neurosurg Rev; 2007 Apr 13; 30(2):155-9; discussion 159-60. PubMed ID: 17187287
    [Abstract] [Full Text] [Related]

  • 38. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
    McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA.
    Hum Mol Genet; 2011 Jan 15; 20(2):211-22. PubMed ID: 20940147
    [Abstract] [Full Text] [Related]

  • 39. Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis.
    Fischer A, Zalvide J, Faurobert E, Albiges-Rizo C, Tournier-Lasserve E.
    Trends Mol Med; 2013 May 15; 19(5):302-8. PubMed ID: 23506982
    [Abstract] [Full Text] [Related]

  • 40. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
    Reddy S, Gorin MB, McCannel TA, Tsui I, Straatsma BR.
    Graefes Arch Clin Exp Ophthalmol; 2010 Sep 15; 248(9):1359-61. PubMed ID: 20306072
    [Abstract] [Full Text] [Related]

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