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Results: 1 to 20 of 102

1.

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

Mosca L, Pileggi S, Avemaria F, Tarlarini C, Cigoli MS, Capra V, De Marco P, Pavanello M, Marocchi A, Penco S.

J Mol Neurosci. 2012 Jul;47(3):475-80. doi: 10.1007/s12031-012-9741-5. Epub 2012 Mar 14.

PMID:
22415356
[PubMed - indexed for MEDLINE]
2.

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]
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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

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
7.

Familial cerebral cavernous malformation.

Dziedzic T, Kunert P, Matyja E, Ziora-Jakutowicz K, Sidoti A, Marchel A.

Folia Neuropathol. 2012;50(2):152-8.

PMID:
22773461
[PubMed - indexed for MEDLINE]
8.

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
9.

Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study.

Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A.

Arch Ophthalmol. 2006 Jun;124(6):885-6.

PMID:
16769843
[PubMed - indexed for MEDLINE]
10.

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
11.

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]
12.

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]
13.

Cerebral cavernous malformations: mutations in Krit1.

Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA.

Neurology. 2002 Mar 26;58(6):853-7. Review.

PMID:
11914398
[PubMed - indexed for MEDLINE]
14.

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]
15.

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

Fujimura M, Tominaga T.

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

PMID:
19069160
[PubMed - indexed for MEDLINE]
16.

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
17.

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]
18.

[Familial forms of central nervous system cavernomas: from recognition to gene therapy].

Labauge P.

Neurochirurgie. 2007 Jun;53(2-3 Pt 2):152-5. Review. French.

PMID:
17498752
[PubMed - indexed for MEDLINE]
19.

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]
20.

[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]

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