559 related articles for article (PubMed ID: 28645800)
1. High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.
Rath M; Jenssen SE; Schwefel K; Spiegler S; Kleimeier D; Sperling C; Kaderali L; Felbor U
Eur J Med Genet; 2017 Sep; 60(9):479-484. PubMed ID: 28645800
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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. PubMed ID: 23485406
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 20419355
[TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis in cerebral cavernous malformations.
Mondejar R; Lucas M
Neurologia; 2017 Oct; 32(8):540-545. PubMed ID: 26304651
[TBL] [Abstract][Full Text] [Related]
6. A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G; Visci G; Guarnieri V; Castellana S; Biagini T; Bisceglia L; Palumbo O; Trivisano M; Vaira C; Scerrati M; Debrasi D; D'Angelo V; Carella M; Merla G; Mazza T; Castori M; D'Agruma L; Fusco C
Hum Mutat; 2018 Dec; 39(12):1885-1900. PubMed ID: 30161288
[TBL] [Abstract][Full Text] [Related]
7. Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C; Nardella G; Petracca A; Ronchi D; Paciello N; Di Giacomo M; Gambardella S; Lanfranconi S; Zampatti S; D'Agruma L; Micale L; Castori M
Clin Genet; 2021 Jun; 99(6):829-835. PubMed ID: 33604894
[TBL] [Abstract][Full Text] [Related]
8. 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; 9(1):e86286. PubMed ID: 24466005
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
da Fontoura Galvão G; Veloso da Silva E; Fontes-Dantas FL; Filho RC; Alves-Leon S; Marcondes de Souza J
World Neurosurg; 2020 Oct; 142():481-486.e1. PubMed ID: 32615293
[TBL] [Abstract][Full Text] [Related]
11. DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing.
Saban D; Larisch J; Nickel AC; Pierscianek D; Dammann P; Sure U; Zhu Y
Eur J Med Genet; 2020 Dec; 63(12):104090. PubMed ID: 33122157
[TBL] [Abstract][Full Text] [Related]
12. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
Scimone C; Bramanti P; Ruggeri A; Donato L; Alafaci C; Crisafulli C; Mucciardi M; Rinaldi C; Sidoti A; D'Angelo R
BMC Med Genet; 2016 Oct; 17(1):74. PubMed ID: 27737651
[TBL] [Abstract][Full Text] [Related]
13. Genetic Screening of Pediatric Cavernous Malformations.
Merello E; Pavanello M; Consales A; Mascelli S; Raso A; Accogli A; Cama A; Valeria C; De Marco P
J Mol Neurosci; 2016 Oct; 60(2):232-8. PubMed ID: 27561926
[TBL] [Abstract][Full Text] [Related]
14. Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.
Rinaldi C; Bramanti P; Scimone C; Donato L; Alafaci C; D'Angelo R; Sidoti A
J Neurol Sci; 2017 Sep; 380():31-37. PubMed ID: 28870584
[TBL] [Abstract][Full Text] [Related]
15. [Gene mutations in patients with hereditary cavernous malformations].
Belousova OB; Bulygina ES; Okishev DN; Prohorchuk EB; Tsygankova SV; Pronin IN; Shishkina LV; Ryzhova MV; Skryabin KG; Konovalov AN
Zh Nevrol Psikhiatr Im S S Korsakova; 2017; 117(6):66-72. PubMed ID: 28745674
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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. PubMed ID: 17160895
[TBL] [Abstract][Full Text] [Related]
18. Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.
Jih KY; Chung CP; Chang YY; Hung PL; Soong BW; Liao YC; Lan MY; Lee YC
Clin Genet; 2018 Oct; 94(3-4):389-390. PubMed ID: 29787619
[No Abstract] [Full Text] [Related]
19. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Scimone C; Bramanti P; Alafaci C; Granata F; Piva F; Rinaldi C; Donato L; Greco F; Sidoti A; D'Angelo R
J Mol Neurosci; 2017 Feb; 61(2):189-198. PubMed ID: 28000143
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21029238
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]