286 related articles for article (PubMed ID: 12877753)
1. 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; 3():5. PubMed ID: 12877753
[TBL] [Abstract][Full Text] [Related]
2. 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; ;
Ann Neurol; 2004 Feb; 55(2):213-20. PubMed ID: 14755725
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17562932
[TBL] [Abstract][Full Text] [Related]
4. 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; 52(5):344-8. PubMed ID: 19454328
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 12404106
[TBL] [Abstract][Full Text] [Related]
6. A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.
Lee YW; Lee ST; Cha JG; Park JH; Jeon BR; Lee YK; Kim JW; Ki CS
Ann Clin Lab Sci; 2010; 40(3):290-4. PubMed ID: 20689144
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 16529293
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20884211
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17277691
[TBL] [Abstract][Full Text] [Related]
10. A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
Yang C; Nicholas VH; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Apr; 61(4):511-523. PubMed ID: 28255959
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 24034083
[TBL] [Abstract][Full Text] [Related]
12. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
Kitzmann AS; Pulido JS; Ferber MJ; Highsmith WE; Babovic-Vuksanovic D
Ophthalmic Genet; 2006 Dec; 27(4):157-9. PubMed ID: 17148043
[TBL] [Abstract][Full Text] [Related]
13. Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations.
Lucas M; Costa AF; Montori M; Solano F; Zayas MD; Izquierdo G
Ann Neurol; 2001 Apr; 49(4):529-32. PubMed ID: 11310633
[TBL] [Abstract][Full Text] [Related]
14. Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.
Lee ST; Choi KW; Yeo HT; Kim JW; Ki CS; Cho YD
J Neurol Sci; 2008 Apr; 267(1-2):177-81. PubMed ID: 18035376
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 18300272
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 20096038
[TBL] [Abstract][Full Text] [Related]
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; 2014 Dec; 86(6):585-8. PubMed ID: 24251678
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16329096
[TBL] [Abstract][Full Text] [Related]
19. Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations.
Kuhn J; Brümmendorf TH; Brassat U; Lehnhardt FG; Chung BD; Harnier S; Bewermeyer H; Harzheim A; Assheuer J; Netzer C
Eur Neurol; 2009; 61(3):154-8. PubMed ID: 19092252
[TBL] [Abstract][Full Text] [Related]
20. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N; Revencu N; Van Regemorter N; Garzon M; Bonduelle M; Chung W; Daras MD; Fahey MC; Garrett C; Gillerot Y; Gillessen-Kaesbach G; Giménez-Arnau A; Guzzetta F; Battaglia D; Heimdal K; Lissens W; Taub E; Van Maldergem L; Van Paesschen W; Wieczorek D; Wood NW; Boon L; Vikkula M
Hum Genet; 2007 Dec; 122(5):552. PubMed ID: 18383597
[No Abstract] [Full Text] [Related]
[Next] [New Search]