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Results: 1 to 20 of 202

Similar articles for PubMed (Select 20419355)

1.

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
2.

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
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.

PMID:
17562932
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
5.

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
6.

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.

7.

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
8.

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
9.

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.

10.

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
11.

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
12.

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Pagenstecher A, Stahl S, Sure U, Felbor U.

Hum Mol Genet. 2009 Mar 1;18(5):911-8. doi: 10.1093/hmg/ddn420. Epub 2008 Dec 16.

13.

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.

14.

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
15.

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.

16.

[Cerebral cavernous malformation--its genetic and biological background].

Fujimura M, Tominaga T.

Brain Nerve. 2008 Nov;60(11):1271-4. Review. Japanese.

PMID:
19069160
17.

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
18.

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
19.

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
20.

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
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