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Results: 1 to 20 of 125

1.

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;126(18):3427-32.

PMID:
24034083
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

[Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation].

Mao Y, Zhao Y, Zhou LF, Huang CX, Shou XF, Gong JL.

Zhonghua Yi Xue Za Zhi. 2003 Sep 25;83(18):1572-5. Chinese.

PMID:
14642111
[PubMed - indexed for MEDLINE]
4.

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]
5.

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.

Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Sociéte Française de Neurochirgurgie; Sociéte de Neurochirurgie de Langue Française.

Ann Neurol. 2004 Feb;55(2):213-20.

PMID:
14755725
[PubMed - indexed for MEDLINE]
6.

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]
7.

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.

PMID:
20306072
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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]
10.

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. Epub 2003 Jul 23.

PMID:
12877753
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

Gault J, Shenkar R, Recksiek P, Awad IA.

Stroke. 2005 Apr;36(4):872-4. Epub 2005 Feb 17.

PMID:
15718512
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1159/000199461. Epub 2009 Jan 31.

PMID:
19182478
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Familial cerebral cavernous malformation: report of a further Italian family.

Nannucci S, Pescini F, Poggesi A, Ciolli L, Patrosso MC, Marocchi A, Inzitari D, Penco S, Pantoni L.

Neurol Sci. 2009 Apr;30(2):143-7. doi: 10.1007/s10072-009-0020-3. Epub 2009 Jan 30.

PMID:
19184323
[PubMed - indexed for MEDLINE]
17.

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]
18.

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
19.

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
20.

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA.

Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18.

PMID:
19454328
[PubMed - indexed for MEDLINE]

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