BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

86 related articles for article (PubMed ID: 25555948)

  • 1. Novel TGFBR2 and known missense SMAD3 mutations: two case reports of thoracic aortic aneurysms.
    Panesi P; Foffa I; Sabina S; Ait Ali L; Andreassi MG
    Ann Thorac Surg; 2015 Jan; 99(1):303-5. PubMed ID: 25555948
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 46(9):607-13. PubMed ID: 19542084
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations and expression alterations in SMAD3/TGFBR2 genes in oral carcinoma correlate with poor prognosis.
    Sivadas VP; George NA; Kattoor J; Kannan S
    Genes Chromosomes Cancer; 2013 Nov; 52(11):1042-52. PubMed ID: 23913824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
    Teekakirikul P; Milewicz DM; Miller DT; Lacro RV; Regalado ES; Rosales AM; Ryan DP; Toler TL; Lin AE
    Am J Med Genet A; 2013 Jan; 161A(1):185-91. PubMed ID: 23239472
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection.
    Engström K; Vánky F; Rehnberg M; Trinks C; Jonasson J; Green A; Gunnarsson C
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1089. PubMed ID: 32022471
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
    LeMaire SA; Pannu H; Tran-Fadulu V; Carter SA; Coselli JS; Milewicz DM
    Nat Clin Pract Cardiovasc Med; 2007 Mar; 4(3):167-71. PubMed ID: 17330129
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
    Wischmeijer A; Van Laer L; Tortora G; Bolar NA; Van Camp G; Fransen E; Peeters N; di Bartolomeo R; Pacini D; Gargiulo G; Turci S; Bonvicini M; Mariucci E; Lovato L; Brusori S; Ritelli M; Colombi M; Garavelli L; Seri M; Loeys BL
    Am J Med Genet A; 2013 May; 161A(5):1028-35. PubMed ID: 23554019
    [TBL] [Abstract][Full Text] [Related]  

  • 10. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
    Jondeau G; Ropers J; Regalado E; Braverman A; Evangelista A; Teixedo G; De Backer J; Muiño-Mosquera L; Naudion S; Zordan C; Morisaki T; Morisaki H; Von Kodolitsch Y; Dupuis-Girod S; Morris SA; Jeremy R; Odent S; Adès LC; Bakshi M; Holman K; LeMaire S; Milleron O; Langeois M; Spentchian M; Aubart M; Boileau C; Pyeritz R; Milewicz DM;
    Circ Cardiovasc Genet; 2016 Dec; 9(6):548-558. PubMed ID: 27879313
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
    Kiliç E; Alanay Y; Utine E; Ozgen-Mocan B; Robinson PN; Boduroğlu K
    Turk J Pediatr; 2012; 54(2):198-202. PubMed ID: 22734312
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
    Pannu H; Fadulu VT; Chang J; Lafont A; Hasham SN; Sparks E; Giampietro PF; Zaleski C; Estrera AL; Safi HJ; Shete S; Willing MC; Raman CS; Milewicz DM
    Circulation; 2005 Jul; 112(4):513-20. PubMed ID: 16027248
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
    van de Laar IM; van der Linde D; Oei EH; Bos PK; Bessems JH; Bierma-Zeinstra SM; van Meer BL; Pals G; Oldenburg RA; Bekkers JA; Moelker A; de Graaf BM; Matyas G; Frohn-Mulder IM; Timmermans J; Hilhorst-Hofstee Y; Cobben JM; Bruggenwirth HT; van Laer L; Loeys B; De Backer J; Coucke PJ; Dietz HC; Willems PJ; Oostra BA; De Paepe A; Roos-Hesselink JW; Bertoli-Avella AM; Wessels MW
    J Med Genet; 2012 Jan; 49(1):47-57. PubMed ID: 22167769
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The transforming growth factor-β receptor genes and the risk of intracranial aneurysms.
    Ruigrok YM; Baas AF; Medic J; Wijmenga C; Rinkel GJ
    Int J Stroke; 2012 Dec; 7(8):645-8. PubMed ID: 21978186
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.
    Pezzini A; Drera B; Del Zotto E; Ritelli M; Carletti M; Tomelleri G; Bovi P; Giossi A; Volonghi I; Costa P; Magoni M; Padovani A; Barlati S; Colombi M
    J Neurol Neurosurg Psychiatry; 2011 Dec; 82(12):1372-4. PubMed ID: 21270064
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
    Hilhorst-Hofstee Y; Scholte AJ; Rijlaarsdam ME; van Haeringen A; Kroft LJ; Reijnierse M; Ruivenkamp CA; Versteegh MI; Pals G; Breuning MH
    Clin Genet; 2013 Apr; 83(4):337-44. PubMed ID: 22803640
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    Hostetler EM; Regalado ES; Guo DC; Hanna N; Arnaud P; Muiño-Mosquera L; Callewaert BL; Lee K; Leal SM; Wallace SE; Rideout AL; Dyack S; Aatre RD; Boileau C; De Backer J; Jondeau G; Milewicz DM
    J Med Genet; 2019 Apr; 56(4):252-260. PubMed ID: 30661052
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
    Zhang P; Zhang E; Fan J; Gu J
    Front Biosci (Landmark Ed); 2013 Jan; 18(1):305-11. PubMed ID: 23276923
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.
    McKellar SH; Tester DJ; Yagubyan M; Majumdar R; Ackerman MJ; Sundt TM
    J Thorac Cardiovasc Surg; 2007 Aug; 134(2):290-6. PubMed ID: 17662764
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
    Frederic MY; Hamroun D; Faivre L; Boileau C; Jondeau G; Claustres M; Béroud C; Collod-Béroud G
    Hum Mutat; 2008 Jan; 29(1):33-8. PubMed ID: 17935258
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.