These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 30754709)

  • 1. Reference Expression Profile of Three
    Benarroch L; Aubart M; Gross MS; Arnaud P; Hanna N; Jondeau G; Boileau C
    Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30754709
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
    Tjeldhorn L; Amundsen SS; Barøy T; Rand-Hendriksen S; Geiran O; Frengen E; Paus B
    BMC Med Genet; 2015 Dec; 16():113. PubMed ID: 26684006
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
    Karaoglan M; Nacarkahya G; Aytac EH; Keskin M
    Eur J Pediatr; 2024 Aug; 183(8):3219-3232. PubMed ID: 38700693
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Recapitulating and Correcting Marfan Syndrome in a Cellular Model.
    Park JW; Yan L; Stoddard C; Wang X; Yue Z; Crandall L; Robinson T; Chang Y; Denton K; Li E; Jiang B; Zhang Z; Martins-Taylor K; Yee SP; Nie H; Gu F; Si W; Xie T; Yue L; Xu RH
    Int J Biol Sci; 2017; 13(5):588-603. PubMed ID: 28539832
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
    Gong B; Yang L; Wang Q; Ye Z; Guo X; Yang C; Hao F; Shi Y; Huang Y; Qu C; Yang Z
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00594. PubMed ID: 30838813
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome.
    Arai Y; Umeyama K; Okazaki N; Nakano K; Nishino K; Nagashima H; Ohgane J
    Sci Rep; 2020 Mar; 10(1):5287. PubMed ID: 32210272
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.
    Lima BL; Santos EJ; Fernandes GR; Merkel C; Mello MR; Gomes JP; Soukoyan M; Kerkis A; Massironi SM; Visintin JA; Pereira LV
    PLoS One; 2010 Nov; 5(11):e14136. PubMed ID: 21152435
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exogenous activation of BMP-2 signaling overcomes TGFβ-mediated inhibition of osteogenesis in Marfan embryonic stem cells and Marfan patient-specific induced pluripotent stem cells.
    Quarto N; Li S; Renda A; Longaker MT
    Stem Cells; 2012 Dec; 30(12):2709-19. PubMed ID: 23037987
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
    Arnaud P; Hanna N; Aubart M; Leheup B; Dupuis-Girod S; Naudion S; Lacombe D; Milleron O; Odent S; Faivre L; Bal L; Edouard T; Collod-Beroud G; Langeois M; Spentchian M; Gouya L; Jondeau G; Boileau C
    J Med Genet; 2017 Feb; 54(2):100-103. PubMed ID: 27582083
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome.
    Siegert AM; García Díaz-Barriga G; Esteve-Codina A; Navas-Madroñal M; Gorbenko Del Blanco D; Alberch J; Heath S; Galán M; Egea G
    Biochim Biophys Acta Mol Basis Dis; 2019 Jan; 1865(1):107-114. PubMed ID: 30385411
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
    Yang H; Luo M; Chen Q; Fu Y; Zhang J; Qian X; Sun X; Fan Y; Zhou Z; Chang Q
    Clin Chim Acta; 2016 Aug; 459():30-35. PubMed ID: 27234404
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Contribution of Mast Cells to the Regulation of Elastic Fiber Tensometry in the Skin Dermis of Children with Marfan Syndrome.
    Atiakshin D; Nikolaeva E; Semyachkina A; Kostin A; Volodkin A; Morozov S; Ignatyuk M; Mikhaleva L; Demyashkin G; Elieh-Ali-Komi D; Buchwalow I; Tiemann M
    Int J Mol Sci; 2024 Aug; 25(17):. PubMed ID: 39273142
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
    Aubart M; Gazal S; Arnaud P; Benarroch L; Gross MS; Buratti J; Boland A; Meyer V; Zouali H; Hanna N; Milleron O; Stheneur C; Bourgeron T; Desguerre I; Jacob MP; Gouya L; Génin E; Deleuze JF; Jondeau G; Boileau C
    Eur J Hum Genet; 2018 Dec; 26(12):1759-1772. PubMed ID: 30087447
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
    Karttunen L; Lönnqvist L; Godfrey M; Peltonen L; Syvänen AC
    Genome Res; 1996 May; 6(5):392-403. PubMed ID: 8743989
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.