286 related articles for article (PubMed ID: 12877753)
21. 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: 18383596
[No Abstract] [Full Text] [Related]
22. 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: 18383594
[No Abstract] [Full Text] [Related]
23. 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]
24. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
Kehrer-Sawatzki H; Wilda M; Braun VM; Richter HP; Hameister H
Acta Neuropathol; 2002 Sep; 104(3):231-40. PubMed ID: 12172908
[TBL] [Abstract][Full Text] [Related]
25. CCM3 mutations are uncommon in cerebral cavernous malformations.
Verlaan DJ; Roussel J; Laurent SB; Elger CE; Siegel AM; Rouleau GA
Neurology; 2005 Dec; 65(12):1982-3. PubMed ID: 16380626
[TBL] [Abstract][Full Text] [Related]
26. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Jan; 61(1):8-15. PubMed ID: 27649701
[TBL] [Abstract][Full Text] [Related]
27. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
Ricci C; Cerase A; Riolo G; Manasse G; Battistini S
J Mol Neurosci; 2021 Sep; 71(9):1876-1883. PubMed ID: 33651268
[TBL] [Abstract][Full Text] [Related]
28. 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; Heimda 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):549-50. PubMed ID: 18383587
[No Abstract] [Full Text] [Related]
29. 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):551. PubMed ID: 18383593
[No Abstract] [Full Text] [Related]
30. 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):551. PubMed ID: 18383591
[No Abstract] [Full Text] [Related]
31. 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):550. PubMed ID: 18383590
[No Abstract] [Full Text] [Related]
32. 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):550. PubMed ID: 18383589
[No Abstract] [Full Text] [Related]
33. 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):550. PubMed ID: 18383588
[No Abstract] [Full Text] [Related]
34. Mutational analysis of 206 families with cavernous malformations.
Laurans MS; DiLuna ML; Shin D; Niazi F; Voorhees JR; Nelson-Williams C; Johnson EW; Siegel AM; Steinberg GK; Berg MJ; Scott RM; Tedeschi G; Enevoldson TP; Anson J; Rouleau GA; Ogilvy C; Awad IA; Lifton RP; Gunel M
J Neurosurg; 2003 Jul; 99(1):38-43. PubMed ID: 12854741
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
Reddy S; Gorin MB; McCannel TA; Tsui I; Straatsma BR
Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1359-61. PubMed ID: 20306072
[TBL] [Abstract][Full Text] [Related]
37. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
Laberge-le Couteulx S; Jung HH; Labauge P; Houtteville JP; Lescoat C; Cecillon M; Marechal E; Joutel A; Bach JF; Tournier-Lasserve E
Nat Genet; 1999 Oct; 23(2):189-93. PubMed ID: 10508515
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation.
Lehnhardt FG; von Smekal U; Rückriem B; Stenzel W; Neveling M; Heiss WD; Jacobs AH
Arch Neurol; 2005 Apr; 62(4):653-8. PubMed ID: 15824268
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]