BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 10686496)

  • 1. Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.
    Mottes M; Mirandola S; Rigatelli F; Zolezzi F; Lisi V; Gordon D; Pignatti PF
    Hum Hered; 2000; 50(3):175-9. PubMed ID: 10686496
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.
    Pereira L; Levran O; Ramirez F; Lynch JR; Sykes B; Pyeritz RE; Dietz HC
    N Engl J Med; 1994 Jul; 331(3):148-53. PubMed ID: 8008028
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].
    Laudahn BM; Gyürüs P; Orth U; Gal A; Nienaber CA
    Z Kardiol; 2000 Oct; 89(10):939-48. PubMed ID: 11098545
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.
    Hewett D; Lynch J; Child A; Firth H; Sykes B
    Am J Hum Genet; 1994 Sep; 55(3):447-52. PubMed ID: 7915876
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome.
    Judge DP; Biery NJ; Dietz HC
    Am J Med Genet; 2001 Feb; 99(1):39-47. PubMed ID: 11170092
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound-heterozygous Marfan syndrome.
    Van Dijk FS; Hamel BC; Hilhorst-Hofstee Y; Mulder BJ; Timmermans J; Pals G; Cobben JM
    Eur J Med Genet; 2009; 52(1):1-5. PubMed ID: 19059503
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
    Tiecke F; Katzke S; Booms P; Robinson PN; Neumann L; Godfrey M; Mathews KR; Scheuner M; Hinkel GK; Brenner RE; Hövels-Gürich HH; Hagemeier C; Fuchs J; Skovby F; Rosenberg T
    Eur J Hum Genet; 2001 Jan; 9(1):13-21. PubMed ID: 11175294
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
    Loeys B; De Backer J; Van Acker P; Wettinck K; Pals G; Nuytinck L; Coucke P; De Paepe A
    Hum Mutat; 2004 Aug; 24(2):140-6. PubMed ID: 15241795
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
    Rantamäki T; Lönnqvist L; Karttunen L; Kainulainen K; Peltonen L
    Eur J Hum Genet; 1994; 2(1):66-75. PubMed ID: 8044654
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).
    Biddinger AL; Hecht JT; Milewicz DM
    Hum Mol Genet; 1993 Aug; 2(8):1323. PubMed ID: 8401518
    [No Abstract]   [Full Text] [Related]  

  • 11. The FBN1 (R2726W) mutation is not fully penetrant.
    Buoni S; Zannolli R; Macucci F; Ansaldi S; Grasso M; Arbustini E; Fois A
    Ann Hum Genet; 2004 Nov; 68(Pt 6):633-8. PubMed ID: 15598221
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
    Hutchinson S; Furger A; Halliday D; Judge DP; Jefferson A; Dietz HC; Firth H; Handford PA
    Hum Mol Genet; 2003 Sep; 12(18):2269-76. PubMed ID: 12915484
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
    Hayward C; Brock DJ
    Hum Mutat; 1997; 10(6):415-23. PubMed ID: 9401003
    [TBL] [Abstract][Full Text] [Related]  

  • 14. FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis.
    Wang B; Hu D; Xia J; Li Q; Yang J; Lu G
    Chin Med J (Engl); 2003 Jul; 116(7):1043-6. PubMed ID: 12890380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.
    Keramati AR; Sadeghpour A; Farahani MM; Chandok G; Mani A
    BMC Med Genet; 2010 Oct; 11():143. PubMed ID: 20937124
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.
    Toudjarska I; Kilpatrick MW; Lembessis P; Carra S; Harton GL; Sisson ME; Black SH; Stern HJ; Gelman-Kohan Z; Shohat M; Tsipouras P
    Am J Med Genet; 2001 Apr; 99(4):294-302. PubMed ID: 11251996
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
    De Backer J; Loeys B; Leroy B; Coucke P; Dietz H; De Paepe A
    Clin Genet; 2007 Sep; 72(3):188-98. PubMed ID: 17718856
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
    Hogue J; Lee C; Jelin A; Strecker MN; Cox VA; Slavotinek AM
    Clin Genet; 2013 Oct; 84(4):392-3. PubMed ID: 23278365
    [No Abstract]   [Full Text] [Related]  

  • 19. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
    Montgomery RA; Geraghty MT; Bull E; Gelb BD; Johnson M; McIntosh I; Francomano CA; Dietz HC
    Am J Hum Genet; 1998 Dec; 63(6):1703-11. PubMed ID: 9837823
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial spontaneous pneumothorax and FBN1 mutations.
    Cardy CM; Maskell NA; Handford PA; Arnold AG; Davies RJ; Morrison PJ; Thornley PE
    Am J Respir Crit Care Med; 2004 Jun; 169(11):1260-2. PubMed ID: 15161620
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.