BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

437 related articles for article (PubMed ID: 27881154)

  • 1. Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
    Maksemous N; Smith RA; Haupt LM; Griffiths LR
    Hum Genomics; 2016 Nov; 10(1):38. PubMed ID: 27881154
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Investigating diagnostic sequencing techniques for CADASIL diagnosis.
    Dunn PJ; Maksemous N; Smith RA; Sutherland HG; Haupt LM; Griffiths LR
    Hum Genomics; 2020 Jan; 14(1):2. PubMed ID: 31915071
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.
    Zea-Sevilla MA; Bermejo-Velasco P; Serrano-Heranz R; Calero M
    J Alzheimers Dis; 2015; 43(2):363-7. PubMed ID: 25096610
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
    Rutten JW; Dauwerse HG; Peters DJ; Goldfarb A; Venselaar H; Haffner C; van Ommen GJ; Aartsma-Rus AM; Lesnik Oberstein SA
    Brain; 2016 Apr; 139(Pt 4):1123-35. PubMed ID: 26912635
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
    Algahtani H; Shirah B; Alharbi SY; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    J Stroke Cerebrovasc Dis; 2020 Jul; 29(7):104832. PubMed ID: 32414585
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
    Roy B; Maksemous N; Smith RA; Menon S; Davies G; Griffiths LR
    Mutat Res; 2012 Apr; 732(1-2):3-8. PubMed ID: 22373597
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.
    Lee YC; Yang AH; Liu HC; Wong WJ; Lu YC; Chang MH; Soong BW
    J Neurol Sci; 2006 Jul; 246(1-2):111-5. PubMed ID: 16580020
    [TBL] [Abstract][Full Text] [Related]  

  • 8. NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.
    Gallardo A; Latapiat V; Rivera A; Fonseca B; Roldan A; Sandoval P; Sánchez C; Matamala JM
    J Stroke Cerebrovasc Dis; 2020 Feb; 29(2):104530. PubMed ID: 31813735
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.
    Pescini F; Bianchi S; Salvadori E; Poggesi A; Dotti MT; Federico A; Inzitari D; Pantoni L
    J Neurol Sci; 2008 Apr; 267(1-2):170-3. PubMed ID: 18022198
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
    Kim YE; Yoon CW; Seo SW; Ki CS; Kim YB; Kim JW; Bang OY; Lee KH; Kim GM; Chung CS; Na DL
    Neurobiol Aging; 2014 Mar; 35(3):726.e1-6. PubMed ID: 24139282
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
    Fernández A; Gómez J; Alonso B; Iglesias S; Coto E
    J Mol Neurosci; 2015 Jul; 56(3):613-6. PubMed ID: 25929831
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?
    Schubert V; Bender B; Kinzel M; Peters N; Freilinger T
    J Neurol; 2018 Jun; 265(6):1338-1342. PubMed ID: 29600389
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL.
    Wang W; Ren Z; Shi Y; Zhang J
    J Stroke Cerebrovasc Dis; 2020 Dec; 29(12):105410. PubMed ID: 33254371
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].
    Ueda M; Nakaguma R; Ando Y
    Rinsho Byori; 2009 Mar; 57(3):242-51. PubMed ID: 19363995
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.
    Hung LY; Ling TK; Lau NKC; Cheung WL; Chong YK; Sheng B; Kwok KM; Mak CM
    J Clin Neurosci; 2018 Oct; 56():95-100. PubMed ID: 29980472
    [TBL] [Abstract][Full Text] [Related]  

  • 16. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
    Moreno-García M; Arteche-López AR; Álvarez-Mora MI; Palma Milla C; Quesada Espinosa JF; Lezana Rosales JM; Sánchez Calvín MT; Gómez Manjón I; Gómez Rodríguez MJ; Mendez-Guerrero A; Villarejo-Galende A
    Am J Med Genet A; 2021 Feb; 185(2):591-595. PubMed ID: 33305890
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.
    Kim Y; Kim JS; Kim G; No YJ; Yoo HW
    Mutat Res; 2006 Jan; 593(1-2):116-20. PubMed ID: 16256149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family.
    Huang L; Li W; Li Y; Song C; Wang P; Wang H; Sun X
    Neurogenetics; 2020 Jan; 21(1):39-49. PubMed ID: 31720972
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CADASIL and autoimmunity: coexistence in a family with the R169C mutation at exon 4 of the NOTCH3 gene.
    Paraskevas GP; Bougea A; Synetou M; Vassilopoulou S; Anagnostou E; Voumvourakis K; Iliopoulos A; Spengos K
    Cerebrovasc Dis; 2014; 38(4):302-7. PubMed ID: 25412914
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CADASIL with a novel NOTCH3 mutation (Cys478Tyr).
    Ozaki K; Irioka T; Ishikawa K; Mizusawa H
    J Stroke Cerebrovasc Dis; 2015 Mar; 24(3):e61-2. PubMed ID: 25595846
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.