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Results: 1 to 20 of 108

1.

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F, Cecillon M, Saugier-Veber P, Tournier-Lasserve E.

Neurogenetics. 2013 May;14(2):133-41. doi: 10.1007/s10048-013-0362-0. Epub 2013 Apr 18.

PMID:
23595507
[PubMed - indexed for MEDLINE]
2.

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]
3.

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]
4.

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]
5.

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
6.

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;10(11):733-40.

PMID:
12404106
[PubMed - indexed for MEDLINE]
Free Article
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.

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]
9.

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
[PubMed - indexed for MEDLINE]
10.

Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).

Ortiz L, Costa AF, Bellido ML, Solano F, García-Moreno JM, Gamero MA, Izquierdo G, Chadli A, Falcao F, Ferro J, Salas J, Alvarez-Cermeño JC, Montori M, Ramos-Arroyo MA, Palomino A, Pintado E, Lucas M.

J Neurol. 2007 Mar;254(3):322-6. Epub 2007 Mar 7.

PMID:
17345049
[PubMed - indexed for MEDLINE]
11.

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]
12.

Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Schröder W, Najm J, Spiegler S, Mair M, Viera J, Henn W, Felbor U.

Neurosurg Rev. 2014 Jan;37(1):161-5. doi: 10.1007/s10143-013-0478-6. Epub 2013 May 31.

PMID:
23722637
[PubMed - indexed for MEDLINE]
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.

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
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.

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]
17.

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.

Riant F, Odent S, Cecillon M, Pasquier L, de Baracé C, Carney MP, Tournier-Lasserve E.

Clin Genet. 2013 Nov 19. doi: 10.1111/cge.12322. [Epub ahead of print]

PMID:
24251678
[PubMed - as supplied by publisher]
18.

Mutations within the MGC4607 gene cause cerebral cavernous malformations.

Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Société Française de Neurochirurgie.

Am J Hum Genet. 2004 Feb;74(2):326-37. Epub 2004 Jan 22.

PMID:
14740320
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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]
20.

Mutation prevalence of cerebral cavernous malformation genes in spanish patients.

Mondéjar R, Solano F, Rubio R, Delgado M, Pérez-Sempere A, González-Meneses A, Vendrell T, Izquierdo G, Martinez-Mir A, Lucas M.

PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014.

PMID:
24466005
[PubMed - in process]
Free PMC Article

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