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Items: 1 to 20 of 143

1.

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.

2.

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.

3.

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.

4.

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.

5.

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
6.

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
7.

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
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.

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
10.

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
11.

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
12.

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?

D'Angelo R, Scimone C, Calabrò M, Schettino C, Fratta M, Sidoti A.

Gene. 2013 Apr 25;519(1):202-7. doi: 10.1016/j.gene.2012.09.045. Epub 2012 Sep 19.

PMID:
23000020
13.

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
14.

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

Cigoli MS, De Benedetti S, Marocchi A, Bacigaluppi S, Primignani P, Gesu G, Citterio A, Tassi L, Mecarelli O, Pulitano P, Penco S.

J Mol Neurosci. 2015 Jul;56(3):602-7. doi: 10.1007/s12031-015-0555-0. Epub 2015 Apr 14.

PMID:
25869611
15.

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
16.

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
17.

Mutations in KRIT1 in familial cerebral cavernous malformations.

Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC.

Neurosurgery. 2000 May;46(5):1272-7; discussion 1277-9.

PMID:
10807272
18.

Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.

Dupré N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA.

Can J Neurol Sci. 2003 May;30(2):122-8.

PMID:
12774951
19.

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M.

Neurosurgery. 2005 Nov;57(5):1008-13.

PMID:
16284570
20.

GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY.

Rinaldi C, Bramanti P, Famà A, Scimone C, Donato L, Antognelli C, Alafaci C, Tomasello F, D'Angelo R, Sidoti A.

J Biol Regul Homeost Agents. 2015 Apr-Jun;29(2):493-500.

PMID:
26122242

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