324 related articles for article (PubMed ID: 32615293)
1. 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]
2. 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]
3. A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation.
Yang C; Wu B; Zhong H; Li Y; Zheng X; Xu Y
Clin Neurol Neurosurg; 2018 Jan; 164():44-46. PubMed ID: 29169046
[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. A novel large deletion in CCM1 gene in a Tunisian family.
Tinsa F; Bel Hadj I; Riant F; Ben Romdhane M; Brini I; Tournier-Lasserve E; Louati H; Abdelhak S; Hamouda S; Boussetta K
Rev Neurol (Paris); 2019 Mar; 175(3):194-197. PubMed ID: 30314744
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
Wang H; Pan Y; Zhang Z; Li X; Xu Z; Suo Y; Li W; Wang Y
J Mol Neurosci; 2017 Feb; 61(2):221-226. PubMed ID: 28160210
[TBL] [Abstract][Full Text] [Related]
8. Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
Fontes-Dantas FL; da Fontoura Galvão G; Veloso da Silva E; Alves-Leon S; Cecília da Silva Rêgo C; Garcia DG; Marques SA; Blanco Martinez AM; Reis da Silva M; Marcondes de Souza J
World Neurosurg; 2020 Jun; 138():535-540.e8. PubMed ID: 32113992
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Li C; Liu P; Huang W; Wang H; Ma K; Zhuo L; Kang Y; He Q; Lin Y; Kang D; Lin F
Neurogenetics; 2023 Apr; 24(2):137-146. PubMed ID: 36892712
[TBL] [Abstract][Full Text] [Related]
11. Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.
Du Q; Shi Z; Chen H; Zhang Y; Wang J; Zhou H
J Mol Neurosci; 2019 Mar; 67(3):467-471. PubMed ID: 30701383
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Chang CW; Hsu PW; Wei KC; Chang CW; Fung HC; Hsih MS; Hsu WC; Ro LS; Chang CN; Wang JJ; Wu YR; Chen ST
Sci Rep; 2019 Aug; 9(1):12387. PubMed ID: 31455779
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17345049
[TBL] [Abstract][Full Text] [Related]
16. Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
Bergametti F; Viot G; Verny C; Brechard MP; Denier C; Labauge P; Petit P; Nouet A; Viallet F; Chaussenot A; Hervé D; Tournier-Lasserve E; Riant F
J Med Genet; 2020 Jun; 57(6):400-404. PubMed ID: 31937560
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Novel
Wang K; Wu D; Zhang B; Zhao G
Front Neurol; 2018; 9():1128. PubMed ID: 30622508
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]