BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 23794388)

  • 41. A novel mutation of the fibrillin gene causing ectopia lentis.
    Lönnqvist L; Child A; Kainulainen K; Davidson R; Puhakka L; Peltonen L
    Genomics; 1994 Feb; 19(3):573-6. PubMed ID: 8188302
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.
    Tekin M; Cengiz FB; Ayberkin E; Kendirli T; Fitoz S; Tutar E; Ciftçi E; Conba A
    Am J Med Genet A; 2007 Apr; 143A(8):875-80. PubMed ID: 17366579
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
    Turner CL; Emery H; Collins AL; Howarth RJ; Yearwood CM; Cross E; Duncan PJ; Bunyan DJ; Harvey JF; Foulds NC
    Am J Med Genet A; 2009 Feb; 149A(2):161-70. PubMed ID: 19161152
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Characterization of Two Novel Intronic Variants Affecting
    Fusco C; Morlino S; Micale L; Ferraris A; Grammatico P; Castori M
    Genes (Basel); 2019 Jun; 10(6):. PubMed ID: 31185693
    [No Abstract]   [Full Text] [Related]  

  • 45. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
    Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
    J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Ectopia lentis phenotypes and the FBN1 gene.
    Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
    Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
    Ståhl-Hallengren C; Ukkonen T; Kainulainen K; Kristofersson U; Saxne T; Tornqvist K; Peltonen L
    J Clin Invest; 1994 Aug; 94(2):709-13. PubMed ID: 8040326
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
    Palz M; Tiecke F; Booms P; Göldner B; Rosenberg T; Fuchs J; Skovby F; Schumacher H; Kaufmann UC; von Kodolitsch Y; Nienaber CA; Leitner C; Katzke S; Vetter B; Hagemeier C; Robinson PN
    Am J Med Genet; 2000 Mar; 91(3):212-21. PubMed ID: 10756346
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
    Körkkö J; Kaitila I; Lönnqvist L; Peltonen L; Ala-Kokko L
    J Med Genet; 2002 Jan; 39(1):34-41. PubMed ID: 11826022
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient.
    Shiga M; Saito M; Hattori M; Torii C; Kosaki K; Kiyono T; Suda N
    Cell Tissue Res; 2008 Feb; 331(2):461-72. PubMed ID: 18049824
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
    Hayward C; Porteous ME; Brock DJ
    Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum.
    Glesby MJ; Pyeritz RE
    JAMA; 1989 Jul; 262(4):523-8. PubMed ID: 2739055
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.
    Sípek A; Grodecká L; Baxová A; Cibulková P; Dvořáková M; Mazurová S; Magner M; Zeman J; Honzík T; Freiberger T
    Am J Med Genet A; 2014 Jun; 164A(6):1559-64. PubMed ID: 24668922
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Microenvironmental regulation by fibrillin-1.
    Sengle G; Tsutsui K; Keene DR; Tufa SF; Carlson EJ; Charbonneau NL; Ono RN; Sasaki T; Wirtz MK; Samples JR; Fessler LI; Fessler JH; Sekiguchi K; Hayflick SJ; Sakai LY
    PLoS Genet; 2012 Jan; 8(1):e1002425. PubMed ID: 22242013
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.
    Rippe M; De Backer J; Kutsche K; Mosquera LM; Schüler H; Rybczynski M; Bernhardt AM; Keyser B; Hillebrand M; Mir TS; Berger J; Blankenberg S; Koschyk D; von Kodolitsch Y
    Int J Cardiol Heart Vasc; 2016 Mar; 10():39-46. PubMed ID: 28616514
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Marfan syndrome and its disorder in periodontal tissues.
    Suda N; Shiga M; Ganburged G; Moriyama K
    J Exp Zool B Mol Dev Evol; 2009 Jul; 312B(5):503-9. PubMed ID: 19199346
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Marfan syndrome and mitral valve prolapse.
    Weyman AE; Scherrer-Crosbie M
    J Clin Invest; 2004 Dec; 114(11):1543-6. PubMed ID: 15578086
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
    Söylen B; Singh KK; Abuzainin A; Rommel K; Becker H; Arslan-Kirchner M; Schmidtke J
    Clin Genet; 2009 Mar; 75(3):265-70. PubMed ID: 19159394
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
    Baudhuin LM; Kotzer KE; Lagerstedt SA
    J Hum Genet; 2015 May; 60(5):241-52. PubMed ID: 25652356
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.