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Journal Abstract Search

227 related items for PubMed ID: 19182478

  • 1. Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
    Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.
    Dermatology; 2009; 218(4):307-13. PubMed ID: 19182478
    [Abstract] [Full Text] [Related]

  • 2. Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.
    Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P.
    J Eur Acad Dermatol Venereol; 2009 Sep; 23(9):1066-72. PubMed ID: 19453802
    [Abstract] [Full Text] [Related]

  • 3. Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.
    Battistini S, Rocchi R, Cerase A, Citterio A, Tassi L, Lando G, Patrosso MC, Galli R, Brunori P, Sgrò DL, Pitillo G, Lo Russo G, Marocchi A, Penco S.
    Arch Neurol; 2007 Jun; 64(6):843-8. PubMed ID: 17562932
    [Abstract] [Full Text] [Related]

  • 4. Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
    Haghighi A, Fathi D, Shahbazi M, Motahari MM, Friedman B.
    J Neurol Sci; 2013 Nov 15; 334(1-2):97-101. PubMed ID: 24007869
    [Abstract] [Full Text] [Related]

  • 5. Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report.
    Lan MY, Liu YF, Huang CC, Peng CH, Liu JS, Chang YY.
    Clin Neurol Neurosurg; 2010 Oct 15; 112(8):729-32. PubMed ID: 20646827
    [Abstract] [Full Text] [Related]

  • 6. Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation.
    Feldmeyer L, Baumann-Vogel H, Tournier-Lasserve E, Riant F, Jung HH, French LE, Kamarashev J.
    Eur J Dermatol; 2014 Oct 15; 24(2):255-7. PubMed ID: 24721395
    [No Abstract] [Full Text] [Related]

  • 7. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
    Pileggi S, Buscone S, Ricci C, Patrosso MC, Marocchi A, Brunori P, Battistini S, Penco S.
    J Mol Neurosci; 2010 Oct 15; 42(2):235-42. PubMed ID: 20419355
    [Abstract] [Full Text] [Related]

  • 8. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
    Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M.
    Hum Mol Genet; 2000 May 22; 9(9):1351-5. PubMed ID: 10814716
    [Abstract] [Full Text] [Related]

  • 9. Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
    D'Angelo R, Marini V, Rinaldi C, Origone P, Dorcaratto A, Avolio M, Goitre L, Forni M, Capra V, Alafaci C, Mareni C, Garrè C, Bramanti P, Sidoti A, Retta SF, Amato A.
    Brain Pathol; 2011 Mar 22; 21(2):215-24. PubMed ID: 21029238
    [Abstract] [Full Text] [Related]

  • 10. A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.
    Ji BH, Qin W, Sun T, Feng GY, He L, Wang YJ.
    Yi Chuan Xue Bao; 2006 Feb 22; 33(2):105-10. PubMed ID: 16529293
    [Abstract] [Full Text] [Related]

  • 11. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
    Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.
    Eur J Hum Genet; 2002 Nov 22; 10(11):733-40. PubMed ID: 12404106
    [Abstract] [Full Text] [Related]

  • 12. Deletions in CCM2 are a common cause of cerebral cavernous malformations.
    Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA.
    Am J Hum Genet; 2007 Jan 22; 80(1):69-75. PubMed ID: 17160895
    [Abstract] [Full Text] [Related]

  • 13. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
    Li C, Liu P, Huang W, Wang H, Ma K, Zhuo L, Kang Y, He Q, Lin Y, Kang D, Lin F.
    Neurogenetics; 2023 Apr 22; 24(2):137-146. PubMed ID: 36892712
    [Abstract] [Full Text] [Related]

  • 14. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
    Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U.
    Hum Mutat; 2008 May 22; 29(5):709-17. PubMed ID: 18300272
    [Abstract] [Full Text] [Related]

  • 15. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
    Wang H, Pan Y, Zhang Z, Li X, Xu Z, Suo Y, Li W, Wang Y.
    J Mol Neurosci; 2017 Feb 22; 61(2):221-226. PubMed ID: 28160210
    [Abstract] [Full Text] [Related]

  • 16. A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
    Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S.
    BMC Neurol; 2014 Aug 03; 14():158. PubMed ID: 25086949
    [Abstract] [Full Text] [Related]

  • 17. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
    Galvão GDF, Trefilio LM, Salvio AL, da Silva EV, Alves-Leon SV, Fontes-Dantas FL, de Souza JM.
    J Stroke Cerebrovasc Dis; 2024 Nov 03; 33(11):107947. PubMed ID: 39181174
    [Abstract] [Full Text] [Related]

  • 18. Molecular genetics of familial cerebral cavernous malformations.
    Dashti SR, Hoffer A, Hu YC, Selman WR.
    Neurosurg Focus; 2006 Jul 15; 21(1):e2. PubMed ID: 16859255
    [Abstract] [Full Text] [Related]

  • 19. 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 Jul 15; 2013():459253. PubMed ID: 24058906
    [Abstract] [Full Text] [Related]

  • 20. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
    Yang C, Zhao J, Wu B, Zhong H, Li Y, Xu Y.
    J Mol Neurosci; 2017 Jan 15; 61(1):8-15. PubMed ID: 27649701
    [Abstract] [Full Text] [Related]

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