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190 related items for PubMed ID: 24243761

  • 1. Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.
    Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP.
    Am J Med Genet A; 2014 Jan; 164A(1):113-9. PubMed ID: 24243761
    [Abstract] [Full Text] [Related]

  • 2. New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
    Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ.
    Eur Heart J; 2018 Apr 14; 39(15):1269-1277. PubMed ID: 29020406
    [Abstract] [Full Text] [Related]

  • 3. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
    Foffa I, Ait Alì L, Panesi P, Mariani M, Festa P, Botto N, Vecoli C, Andreassi MG.
    BMC Med Genet; 2013 Apr 11; 14():44. PubMed ID: 23578328
    [Abstract] [Full Text] [Related]

  • 4. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
    Tran-Fadulu V, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
    J Med Genet; 2009 Sep 11; 46(9):607-13. PubMed ID: 19542084
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 120(25):2541-9. PubMed ID: 19996017
    [Abstract] [Full Text] [Related]

  • 6. 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 22; 27(8):760-9. PubMed ID: 16791849
    [Abstract] [Full Text] [Related]

  • 7. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.
    Arrington CB, Sower CT, Chuckwuk N, Stevens J, Leppert MF, Yetman AT, Bowles NE.
    Am J Cardiol; 2008 Sep 01; 102(5):629-31. PubMed ID: 18721526
    [Abstract] [Full Text] [Related]

  • 8. Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
    Lardeux A, Kyndt F, Lecointe S, Marec HL, Merot J, Schott JJ, Le Tourneau T, Probst V.
    J Cardiovasc Transl Res; 2011 Dec 01; 4(6):748-56. PubMed ID: 21773876
    [Abstract] [Full Text] [Related]

  • 9. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
    Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P.
    Rev Esp Cardiol (Engl Ed); 2018 Jul 01; 71(7):545-552. PubMed ID: 29146485
    [Abstract] [Full Text] [Related]

  • 10. Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.
    Haataja TJK, Capoulade R, Lecointe S, Hellman M, Merot J, Permi P, Pentikäinen U.
    Biophys J; 2019 Oct 15; 117(8):1467-1475. PubMed ID: 31542223
    [Abstract] [Full Text] [Related]

  • 11. Genetics of syndromic and non-syndromic mitral valve prolapse.
    Le Tourneau T, Mérot J, Rimbert A, Le Scouarnec S, Probst V, Le Marec H, Levine RA, Schott JJ.
    Heart; 2018 Jun 15; 104(12):978-984. PubMed ID: 29352010
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 68(1):225-233.e5. PubMed ID: 28847661
    [Abstract] [Full Text] [Related]

  • 13. Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge.
    Gasser S, Reichenspurner H, Girdauskas E.
    BMC Cardiovasc Disord; 2018 Feb 27; 18(1):41. PubMed ID: 29486707
    [Abstract] [Full Text] [Related]

  • 14. Mutations in DCHS1 cause mitral valve prolapse.
    Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.
    Nature; 2015 Sep 03; 525(7567):109-13. PubMed ID: 26258302
    [Abstract] [Full Text] [Related]

  • 15. Significance of Fibrillin-1, Filamin A, MMP2 and SOX9 in Mitral Valve Pathology.
    Opris CE, Suciu H, Jung I, Flamand S, Harpa MM, Opris CI, Popa C, Kovacs Z, Gurzu S.
    Int J Mol Sci; 2024 Aug 29; 25(17):. PubMed ID: 39273357
    [Abstract] [Full Text] [Related]

  • 16. Associations of TGFBR1 and TGFBR2 gene polymorphisms with the risk of hypospadias: a case-control study in a Chinese population.
    Han XR, Wen X, Wang S, Hong XW, Fan SH, Zhuang J, Wang YJ, Zhang ZF, Li MQ, Hu B, Shan Q, Sun CH, Bao YX, Lin M, He T, Wu DM, Lu J, Zheng YL.
    Biosci Rep; 2017 Oct 31; 37(5):. PubMed ID: 28894026
    [Abstract] [Full Text] [Related]

  • 17. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
    Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ.
    Circulation; 2007 Jan 02; 115(1):40-9. PubMed ID: 17190868
    [Abstract] [Full Text] [Related]

  • 18. Concordant repression and aberrant methylation of transforming growth factor-beta signaling pathway genes occurs early in gastric cardia adenocarcinoma.
    Guo W, Dong Z, Guo Y, Kuang G, Yang Z, Shan B.
    Mol Biol Rep; 2012 Oct 02; 39(10):9453-62. PubMed ID: 22722999
    [Abstract] [Full Text] [Related]

  • 19. Concordant promoter methylation of transforming growth factor-beta receptor types I and II occurs early in esophageal squamous cell carcinoma.
    Dong Z, Guo W, Guo Y, Kuang G, Yang Z.
    Am J Med Sci; 2012 May 02; 343(5):375-81. PubMed ID: 22314103
    [Abstract] [Full Text] [Related]

  • 20. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
    Santiago-Sim T, Mathew-Joseph S, Pannu H, Milewicz DM, Seidman CE, Seidman JG, Kim DH.
    Stroke; 2009 May 02; 40(5):1604-11. PubMed ID: 19299629
    [Abstract] [Full Text] [Related]

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