BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 16729972)

  • 1. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
    Mohamed SA; Aherrahrou Z; Liptau H; Erasmi AW; Hagemann C; Wrobel S; Borzym K; Schunkert H; Sievers HH; Erdmann J
    Biochem Biophys Res Commun; 2006 Jul; 345(4):1460-5. PubMed ID: 16729972
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.
    McKellar SH; Tester DJ; Yagubyan M; Majumdar R; Ackerman MJ; Sundt TM
    J Thorac Cardiovasc Surg; 2007 Aug; 134(2):290-6. PubMed ID: 17662764
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
    Foffa I; Ait Alì L; Panesi P; Mariani M; Festa P; Botto N; Vecoli C; Andreassi MG
    BMC Med Genet; 2013 Apr; 14():44. PubMed ID: 23578328
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sequencing of NOTCH1 gene in an Italian population with bicuspid aortic valve: Preliminary results from the GISSI OUTLIERS VAR study.
    Pileggi S; De Chiara B; Magnoli M; Franzosi MG; Merlanti B; Bianchini F; Moreo A; Romeo G; Russo CF; Rizzo S; Basso C; Martinelli L; Maseri A;
    Gene; 2019 Oct; 715():143970. PubMed ID: 31330235
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
    Durocher F; Labrie Y; Soucy P; Sinilnikova O; Labuda D; Bessette P; Chiquette J; Laframboise R; Lépine J; Lespérance B; Ouellette G; Pichette R; Plante M; Tavtigian SV; Simard J
    BMC Cancer; 2006 Sep; 6():230. PubMed ID: 17010193
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetics of aortic valve disease.
    Garg V
    Curr Opin Cardiol; 2006 May; 21(3):180-4. PubMed ID: 16601454
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.
    Padang R; Bagnall RD; Richmond DR; Bannon PG; Semsarian C
    J Mol Cell Cardiol; 2012 Aug; 53(2):277-81. PubMed ID: 22641149
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
    Debiec RM; Hamby SE; Jones PD; Safwan K; Sosin M; Hetherington SL; Sprigings D; Sharman D; Lee K; Salahshouri P; Wheeldon N; Chukwuemeka A; Boutziouka V; Elamin M; Coolman S; Asiani M; Kharodia S; Skinner GJ; Samani NJ; Webb TR; Bolger AP
    Heart; 2022 Jun; 108(14):1114-1120. PubMed ID: 35288444
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.
    Ellison JW; Yagubyan M; Majumdar R; Sarkar G; Bolander ME; Atkinson EJ; Sarano ME; Sundt TM
    J Surg Res; 2007 Sep; 142(1):28-31. PubMed ID: 17716607
    [TBL] [Abstract][Full Text] [Related]  

  • 11. NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis.
    Zhu YM; Zhao WL; Fu JF; Shi JY; Pan Q; Hu J; Gao XD; Chen B; Li JM; Xiong SM; Gu LJ; Tang JY; Liang H; Jiang H; Xue YQ; Shen ZX; Chen Z; Chen SJ
    Clin Cancer Res; 2006 May; 12(10):3043-9. PubMed ID: 16707600
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variants in the NOTCH1 gene in patients with aortic coarctation.
    Freylikhman O; Tatarinova T; Smolina N; Zhuk S; Klyushina A; Kiselev A; Moiseeva O; Sjoberg G; Malashicheva A; Kostareva A
    Congenit Heart Dis; 2014; 9(5):391-6. PubMed ID: 24418111
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve.
    Lin X; Liu X; Wang L; Jiang J; Sun Y; Zhu Q; Chen Z; He Y; Hu P; Xu Q; Gao F; Lin Y; Jaiswal S; Xiang M; Wang J
    Int J Cardiol; 2018 Feb; 252():150-155. PubMed ID: 29162281
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
    Thomsen LL; Oestergaard E; Bjornsson A; Stefansson H; Fasquel AC; Gulcher J; Stefansson K; Olesen J
    Cephalalgia; 2008 Sep; 28(9):914-21. PubMed ID: 18513263
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.
    Kent KC; Crenshaw ML; Goh DL; Dietz HC
    J Thorac Cardiovasc Surg; 2013 Jul; 146(1):158-165.e1. PubMed ID: 23102684
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.
    Radpour R; Gourabi H; Gilani MA; Dizaj AV; Rezaee M; Mollamohamadi S
    Mol Hum Reprod; 2006 Nov; 12(11):717-21. PubMed ID: 16973827
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.
    Sarin R; Tomar N; Ray D; Gupta N; Sharma YD; Goswami R
    Clin Endocrinol (Oxf); 2006 Sep; 65(3):359-63. PubMed ID: 16918956
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.
    Kim JH; Kim IS; Kwon SY; Jang BC; Suh SI; Shin DH; Jeon CH; Son EI; Kim SP
    Int J Mol Med; 2006 Jul; 18(1):27-32. PubMed ID: 16786152
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Endothelial Notch1 Is Required for Proper Development of the Semilunar Valves and Cardiac Outflow Tract.
    Koenig SN; Bosse K; Majumdar U; Bonachea EM; Radtke F; Garg V
    J Am Heart Assoc; 2016 Apr; 5(4):. PubMed ID: 27107132
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-term survival after the Bentall procedure in 206 patients with bicuspid aortic valve.
    Etz CD; Homann TM; Silovitz D; Spielvogel D; Bodian CA; Luehr M; DiLuozzo G; Plestis KA; Griepp RB
    Ann Thorac Surg; 2007 Oct; 84(4):1186-93; discussion 1193-4. PubMed ID: 17888968
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.