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Results: 1 to 20 of 176

1.

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;21(2):215-24. doi: 10.1111/j.1750-3639.2010.00441.x. Epub 2010 Oct 4. Erratum in: Brain Pathol. 2011 May;21(3):360.

PMID:
21029238
[PubMed - indexed for MEDLINE]
2.

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;29(5):709-17. doi: 10.1002/humu.20712.

PMID:
18300272
[PubMed - indexed for MEDLINE]
3.

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;42(2):235-42. doi: 10.1007/s12031-010-9360-y. Epub 2010 Apr 24.

PMID:
20419355
[PubMed - indexed for MEDLINE]
4.

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. doi: 10.1155/2013/459253. Epub 2013 Aug 22.

PMID:
24058906
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.

D'Angelo R, Scimone C, Rinaldi C, Trimarchi G, Italiano D, Bramanti P, Amato A, Sidoti A.

Int J Mol Med. 2012 Jun;29(6):1113-20. doi: 10.3892/ijmm.2012.927. Epub 2012 Feb 28.

PMID:
22378217
[PubMed - indexed for MEDLINE]
6.

Genomic causes of multiple cerebral cavernous malformations in a Japanese population.

Tsutsumi S, Ogino I, Miyajima M, Ikeda T, Shindo N, Yasumoto Y, Ito M, Arai H.

J Clin Neurosci. 2013 May;20(5):667-9. doi: 10.1016/j.jocn.2012.05.041. Epub 2013 Feb 26.

PMID:
23485406
[PubMed - indexed for MEDLINE]
7.

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;80(1):69-75. Epub 2006 Nov 14.

PMID:
17160895
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F.

Neurogenetics. 2008 Feb;9(1):25-31. Epub 2007 Dec 1.

PMID:
18060436
[PubMed - indexed for MEDLINE]
9.

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;29(3):E1. doi: 10.3171/2010.5.FOCUS1090.

PMID:
20809750
[PubMed - indexed for MEDLINE]
10.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA.

Hum Mutat. 2006 Jan;27(1):118.

PMID:
16329096
[PubMed - indexed for MEDLINE]
11.

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. doi: 10.1016/j.jns.2013.07.2518. Epub 2013 Aug 7.

PMID:
24007869
[PubMed - indexed for MEDLINE]
12.

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 1;18(5):919-30. doi: 10.1093/hmg/ddn430. Epub 2008 Dec 16.

PMID:
19088123
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
17562932
[PubMed - indexed for MEDLINE]
14.

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. doi: 10.1111/j.1468-3083.2009.03263.x. Epub 2009 Apr 29.

PMID:
19453802
[PubMed - indexed for MEDLINE]
15.

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.

Gault J, Sain S, Hu LJ, Awad IA.

Neurosurgery. 2006 Dec;59(6):1278-84; discussion 1284-5.

PMID:
17277691
[PubMed - indexed for MEDLINE]
16.

CCM3 mutations are uncommon in cerebral cavernous malformations.

Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA.

Neurology. 2005 Dec 27;65(12):1982-3.

PMID:
16380626
[PubMed - indexed for MEDLINE]
17.

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E; Société Française de Neurochirurgie.

Am J Hum Genet. 2005 Jan;76(1):42-51. Epub 2004 Nov 12.

PMID:
15543491
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease.

Yoruk B, Gillers BS, Chi NC, Scott IC.

Dev Biol. 2012 Feb 15;362(2):121-31. doi: 10.1016/j.ydbio.2011.12.006. Epub 2011 Dec 11.

PMID:
22182521
[PubMed - indexed for MEDLINE]
Free Article
19.

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;30(2):155-9; discussion 159-60. Epub 2006 Dec 23.

PMID:
17187287
[PubMed - indexed for MEDLINE]
20.

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E.

FEBS J. 2010 Mar;277(5):1070-5. doi: 10.1111/j.1742-4658.2009.07535.x. Epub 2010 Jan 22. Review.

PMID:
20096038
[PubMed - indexed for MEDLINE]

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