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Items: 1 to 20 of 99

1.

Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.

Waters MF, Shields DC, Martin NA, Baloh RW, Jen JC.

Neurology. 2005 Sep 27;65(6):966-7. No abstract available.

PMID:
16186553
2.

Familial multiple cavernomatosis: description of a new mutation.

Simón Gozalbo A, Beneyto M, Rodríguez-Luna D, Vilar Ventura RM, Belenguer Benavides A, Geffner Sclarsky D.

Neurologia. 2011 Apr;26(3):184-6. doi: 10.1016/j.nrl.2010.06.006. Epub 2010 Nov 13. English, Spanish. No abstract available.

3.

A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.

Lee YW, Lee ST, Cha JG, Park JH, Jeon BR, Lee YK, Kim JW, Ki CS.

Ann Clin Lab Sci. 2010 Summer;40(3):290-4.

PMID:
20689144
4.

Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.

Lee ST, Choi KW, Yeo HT, Kim JW, Ki CS, Cho YD.

J Neurol Sci. 2008 Apr 15;267(1-2):177-81. Epub 2007 Nov 26.

PMID:
18035376
5.

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;248(9):1359-61. doi: 10.1007/s00417-010-1329-6. Epub 2010 Mar 20.

6.

Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.

Melis M, Cau M, Corraine S, Secci S, Addis M, Melis M.

Cerebrovasc Dis. 2014;38(4):311-2. doi: 10.1159/000368215. Epub 2014 Nov 20. No abstract available.

7.

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
8.

Cavernous malformation within a schwannoma: review of the literature and hypothesis of a common genetic etiology.

Feiz-Erfan I, Zabramski JM, Herrmann LL, Coons SW.

Acta Neurochir (Wien). 2006 Jun;148(6):647-52; discussion 652. Epub 2006 Jan 30. Review.

PMID:
16450046
9.

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D.

Ophthalmic Genet. 2006 Dec;27(4):157-9.

PMID:
17148043
10.

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
11.

Cavernous hemangioma of the spinal cord - conservative or operative management?

Kondziella D, Brodersen P, Laursen H, Hansen K.

Acta Neurol Scand. 2006 Oct;114(4):287-90.

PMID:
16942550
12.

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;33(2):105-10.

PMID:
16529293
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
14.

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau GA, Siegel AM.

Neurology. 2004 Apr 13;62(7):1213-5.

PMID:
15079030
15.

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
16.

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.

Zhao Y, Xie L, Li P, Song J, Qu T, Fan W, Chen H, Chen D, Lu D, Zhou L, Mao Y.

J Clin Neurosci. 2011 Jan;18(1):61-5. doi: 10.1016/j.jocn.2010.04.051. Epub 2010 Sep 29.

PMID:
20884211
17.

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 5;144B(5):691-5.

PMID:
17440989
18.

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen DH, Lipe HP, Qin Z, Bird TD.

J Neurol Sci. 2002 Apr 15;196(1-2):91-6.

PMID:
11959162
19.

Hemorrhage of cavernous malformations during pregnancy and in the peripartum period: causal or coincidence? Case report and review of the literature.

Safavi-Abbasi S, Feiz-Erfan I, Spetzler RF, Kim L, Dogan S, Porter RW, Sonntag VK.

Neurosurg Focus. 2006 Jul 15;21(1):e12.

PMID:
16859250
20.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimda K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M.

Hum Genet. 2007 Dec;122(5):549. No abstract available.

PMID:
18380023

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