BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

767 related articles for article (PubMed ID: 28847661)

  • 1. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.
    De Cario R; Sticchi E; Lucarini L; Attanasio M; Nistri S; Marcucci R; Pepe G; Giusti B
    J Vasc Surg; 2018 Jul; 68(1):225-233.e5. PubMed ID: 28847661
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
    Singh KK; Rommel K; Mishra A; Karck M; Haverich A; Schmidtke J; Arslan-Kirchner M
    Hum Mutat; 2006 Aug; 27(8):770-7. PubMed ID: 16799921
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
    Somers AE; Hinton RB; Pilipenko V; Miller E; Ware SM
    Am J Med Genet A; 2016 Jul; 170(7):1786-90. PubMed ID: 27112580
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
    Mátyás G; Arnold E; Carrel T; Baumgartner D; Boileau C; Berger W; Steinmann B
    Hum Mutat; 2006 Aug; 27(8):760-9. PubMed ID: 16791849
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
    Stheneur C; Collod-Béroud G; Faivre L; Gouya L; Sultan G; Le Parc JM; Moura B; Attias D; Muti C; Sznajder M; Claustres M; Junien C; Baumann C; Cormier-Daire V; Rio M; Lyonnet S; Plauchu H; Lacombe D; Chevallier B; Jondeau G; Boileau C
    Hum Mutat; 2008 Nov; 29(11):E284-95. PubMed ID: 18781618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
    Sheikhzadeh S; Rybczynski M; Habermann CR; Bernhardt AM; Arslan-Kirchner M; Keyser B; Kaemmerer H; Mir TS; Staebler A; Oezdal N; Robinson PN; Berger J; Meinertz T; von Kodolitsch Y
    Clin Genet; 2011 Jun; 79(6):568-74. PubMed ID: 20662850
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
    Haller G; Alvarado DM; Willing MC; Braverman AC; Bridwell KH; Kelly M; Lenke LG; Luhmann SJ; Gurnett CA; Dobbs MB
    J Bone Joint Surg Am; 2015 Sep; 97(17):1411-7. PubMed ID: 26333736
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome.
    Akutsu K; Morisaki H; Okajima T; Yoshimuta T; Tsutsumi Y; Takeshita S; Nonogi H; Ogino H; Higashi M; Morisaki T
    Circ J; 2010 May; 74(5):990-7. PubMed ID: 20354336
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
    Sakai H; Visser R; Ikegawa S; Ito E; Numabe H; Watanabe Y; Mikami H; Kondoh T; Kitoh H; Sugiyama R; Okamoto N; Ogata T; Fodde R; Mizuno S; Takamura K; Egashira M; Sasaki N; Watanabe S; Nishimaki S; Takada F; Nagai T; Okada Y; Aoka Y; Yasuda K; Iwasa M; Kogaki S; Harada N; Mizuguchi T; Matsumoto N
    Am J Med Genet A; 2006 Aug; 140(16):1719-25. PubMed ID: 16835936
    [TBL] [Abstract][Full Text] [Related]  

  • 10. May TGFBR1 act also as low penetrance allele in Marfan syndrome?
    Lucarini L; Evangelisti L; Attanasio M; Lapini I; Chiarini F; Porciani MC; Abbate R; Gensini G; Pepe G
    Int J Cardiol; 2009 Jan; 131(2):281-4. PubMed ID: 17936924
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
    Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
    Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
    Attias D; Stheneur C; Roy C; Collod-Béroud G; Detaint D; Faivre L; Delrue MA; Cohen L; Francannet C; Béroud C; Claustres M; Iserin F; Khau Van Kien P; Lacombe D; Le Merrer M; Lyonnet S; Odent S; Plauchu H; Rio M; Rossi A; Sidi D; Steg PG; Ravaud P; Boileau C; Jondeau G
    Circulation; 2009 Dec; 120(25):2541-9. PubMed ID: 19996017
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.
    Akutsu K; Morisaki H; Takeshita S; Sakamoto S; Tamori Y; Yoshimuta T; Yokoyama N; Nonogi H; Ogino H; Morisaki T
    Circ J; 2007 Aug; 71(8):1305-9. PubMed ID: 17652900
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling.
    Wei H; Hu JH; Angelov SN; Fox K; Yan J; Enstrom R; Smith A; Dichek DA
    J Am Heart Assoc; 2017 Jan; 6(1):. PubMed ID: 28119285
    [TBL] [Abstract][Full Text] [Related]  

  • 16. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
    Adès LC; Sullivan K; Biggin A; Haan EA; Brett M; Holman KJ; Dixon J; Robertson S; Holmes AD; Rogers J; Bennetts B
    Am J Med Genet A; 2006 May; 140(10):1047-58. PubMed ID: 16596670
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).
    Lerner-Ellis JP; Aldubayan SH; Hernandez AL; Kelly MA; Stuenkel AJ; Walsh J; Joshi VA
    Mol Genet Metab; 2014 Jun; 112(2):171-6. PubMed ID: 24793577
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
    Zhang L; Gao LG; Zhang M; Zhou XL
    Mol Vis; 2012; 18():55-63. PubMed ID: 22259224
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
    Stengl R; Bors A; Ágg B; Pólos M; Matyas G; Molnár MJ; Fekete B; Csabán D; Andrikovics H; Merkely B; Radovits T; Szabolcs Z; Benke K
    Orphanet J Rare Dis; 2020 Oct; 15(1):290. PubMed ID: 33059708
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
    Disabella E; Grasso M; Marziliano N; Ansaldi S; Lucchelli C; Porcu E; Tagliani M; Pilotto A; Diegoli M; Lanzarini L; Malattia C; Pelliccia A; Ficcadenti A; Gabrielli O; Arbustini E
    Eur J Hum Genet; 2006 Jan; 14(1):34-8. PubMed ID: 16251899
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 39.