BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 37477739)

  • 1. Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.
    Guo D; Liu L; Ng KY; Cao Q; Zheng D; Zhang X; Jin G
    Graefes Arch Clin Exp Ophthalmol; 2023 Nov; 261(11):3315-3324. PubMed ID: 37477739
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
    De Backer J
    Verh K Acad Geneeskd Belg; 2009; 71(6):335-71. PubMed ID: 20232788
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
    Chen ZX; Chen TH; Zhang M; Chen JH; Lan LN; Deng M; Zheng JL; Jiang YX
    Hum Mutat; 2021 Dec; 42(12):1637-1647. PubMed ID: 34550612
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cysteine Substitution and Calcium-Binding Mutations in
    Zhang M; Chen Z; Chen T; Sun X; Jiang Y
    Front Cell Dev Biol; 2021; 9():816397. PubMed ID: 35237611
    [No Abstract]   [Full Text] [Related]  

  • 5. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
    Loeys B; Nuytinck L; Delvaux I; De Bie S; De Paepe A
    Arch Intern Med; 2001 Nov; 161(20):2447-54. PubMed ID: 11700157
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.
    Guo D; Jin G; Zhou Y; Zhang X; Cao Q; Lian Z; Guo Y; Zheng D
    Exp Eye Res; 2021 Jun; 207():108570. PubMed ID: 33844962
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
    Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
    Hum Mutat; 2002 Sep; 20(3):153-61. PubMed ID: 12203987
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
    Karaoglan M; Nacarkahya G; Aytac EH; Keskin M
    Eur J Pediatr; 2024 May; ():. PubMed ID: 38700693
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
    Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM
    Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
    Rommel K; Karck M; Haverich A; von Kodolitsch Y; Rybczynski M; Müller G; Singh KK; Schmidtke J; Arslan-Kirchner M
    Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
    Qi M; Wang C; Liu Y; Shi X; Rong W
    Int Ophthalmol; 2022 Jul; 42(7):2245-2253. PubMed ID: 35612688
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
    Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
    Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
    Chandra A; Aragon-Martin JA; Hughes K; Gati S; Reddy MA; Deshpande C; Cormack G; Child AH; Charteris DG; Arno G
    Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4889-96. PubMed ID: 22736615
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.
    Wang J; Yan Y; Chen J; Gong L; Zhang Y; Yuan M; Cui B; Wang Y
    Mol Biol Rep; 2016 Nov; 43(11):1227-1232. PubMed ID: 27558095
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
    Meester JAN; Peeters S; Van Den Heuvel L; Vandeweyer G; Fransen E; Cappella E; Dietz HC; Forbus G; Gelb BD; Goldmuntz E; Hoskoppal A; Landstrom AP; Lee T; Mital S; Morris S; Olson AK; Renard M; Roden DM; Singh MN; Selamet Tierney ES; Tretter JT; Van Driest SL; Willing M; Verstraeten A; Van Laer L; Lacro RV; Loeys BL
    Genet Med; 2022 May; 24(5):1045-1053. PubMed ID: 35058154
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.
    Franken R; Teixido-Tura G; Brion M; Forteza A; Rodriguez-Palomares J; Gutierrez L; Garcia Dorado D; Pals G; Mulder BJ; Evangelista A
    Heart; 2017 Nov; 103(22):1795-1799. PubMed ID: 28468757
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
    Peng Q; Deng Y; Yang Y; Liu H
    BMC Pediatr; 2016 Apr; 16():60. PubMed ID: 27138491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
    Attanasio M; Lapini I; Evangelisti L; Lucarini L; Giusti B; Porciani M; Fattori R; Anichini C; Abbate R; Gensini G; Pepe G
    Clin Genet; 2008 Jul; 74(1):39-46. PubMed ID: 18435798
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
    Faivre L; Collod-Beroud G; Callewaert B; Child A; Loeys BL; Binquet C; Gautier E; Arbustini E; Mayer K; Arslan-Kirchner M; Kiotsekoglou A; Comeglio P; Grasso M; Beroud C; Bonithon-Kopp C; Claustres M; Stheneur C; Bouchot O; Wolf JE; Robinson PN; Adès L; De Backer J; Coucke P; Francke U; De Paepe A; Boileau C; Jondeau G
    Am J Med Genet A; 2009 May; 149A(5):854-60. PubMed ID: 19353630
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The revised ghent nosology; reclassifying isolated ectopia lentis.
    Chandra A; Patel D; Aragon-Martin JA; Pinard A; Collod-Béroud G; Comeglio P; Boileau C; Faivre L; Charteris D; Child AH; Arno G
    Clin Genet; 2015 Mar; 87(3):284-7. PubMed ID: 24635535
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.