371 related articles for article (PubMed ID: 28488085)
41. 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]
42. A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
Lanfranconi S; Ronchi D; Ahmed N; Civelli V; Basilico P; Bresolin N; Comi GP; Corti S
BMC Neurol; 2014 Aug; 14():158. PubMed ID: 25086949
[TBL] [Abstract][Full Text] [Related]
43. Familial cerebral cavernous malformation: report of a further Italian family.
Nannucci S; Pescini F; Poggesi A; Ciolli L; Patrosso MC; Marocchi A; Inzitari D; Penco S; Pantoni L
Neurol Sci; 2009 Apr; 30(2):143-7. PubMed ID: 19184323
[TBL] [Abstract][Full Text] [Related]
44. 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]
45. 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; 144B(5):691-5. PubMed ID: 17440989
[TBL] [Abstract][Full Text] [Related]
46. Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Chen Y; Dong X; Wang Y; Lv H; Chen N; Wang Z; Chen S; Chen P; Xiao S; Zhao J; Dong J
Front Neurosci; 2023; 17():1184333. PubMed ID: 37214396
[TBL] [Abstract][Full Text] [Related]
47. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
Marini V; Ferrera L; Dorcaratto A; Viale G; Origone P; Mareni C; Garrè C
J Neurol Sci; 2003 Aug; 212(1-2):75-8. PubMed ID: 12810002
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. 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]
50. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.
Gault J; Shenkar R; Recksiek P; Awad IA
Stroke; 2005 Apr; 36(4):872-4. PubMed ID: 15718512
[TBL] [Abstract][Full Text] [Related]
51. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
Verlaan DJ; Laurent SB; Sure U; Bertalanffy H; Andermann E; Andermann F; Rouleau GA; Siegel AM
Neurology; 2004 Apr; 62(7):1213-5. PubMed ID: 15079030
[TBL] [Abstract][Full Text] [Related]
52. KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease.
Antognelli C; Trapani E; Delle Monache S; Perrelli A; Daga M; Pizzimenti S; Barrera G; Cassoni P; Angelucci A; Trabalzini L; Talesa VN; Goitre L; Retta SF
Free Radic Biol Med; 2018 Feb; 115():202-218. PubMed ID: 29170092
[TBL] [Abstract][Full Text] [Related]
53. Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
Manole AK; Forrester VJ; Zlotoff BJ; Hart BL; Morrison LA
Am J Med Genet A; 2020 May; 182(5):1066-1072. PubMed ID: 32100472
[TBL] [Abstract][Full Text] [Related]
54. 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. PubMed ID: 10807272
[TBL] [Abstract][Full Text] [Related]
55. Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Labowsky MT; Walter SD; McDonald MT; Mruthyunjaya P
J AAPOS; 2017 Oct; 21(5):426-429.e1. PubMed ID: 28867399
[TBL] [Abstract][Full Text] [Related]
56. 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; 334(1-2):97-101. PubMed ID: 24007869
[TBL] [Abstract][Full Text] [Related]
57. Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
Toll A; Parera E; Giménez-Arnau AM; Pou A; Lloreta J; Limaye N; Vikkula M; Pujol RM
Dermatology; 2009; 218(4):307-13. PubMed ID: 19182478
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.
Zhang J; Clatterbuck RE; Rigamonti D; Chang DD; Dietz HC
Hum Mol Genet; 2001 Dec; 10(25):2953-60. PubMed ID: 11741838
[TBL] [Abstract][Full Text] [Related]
60. Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.
Moller-Hansen A; Huynh S; Boerkoel CF; Chin HL
Am J Med Genet A; 2022 Jan; 188(1):332-335. PubMed ID: 34558799
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]