BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 15.