BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

380 related articles for article (PubMed ID: 29392890)

  • 1. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
    Schepers D; Tortora G; Morisaki H; MacCarrick G; Lindsay M; Liang D; Mehta SG; Hague J; Verhagen J; van de Laar I; Wessels M; Detisch Y; van Haelst M; Baas A; Lichtenbelt K; Braun K; van der Linde D; Roos-Hesselink J; McGillivray G; Meester J; Maystadt I; Coucke P; El-Khoury E; Parkash S; Diness B; Risom L; Scurr I; Hilhorst-Hofstee Y; Morisaki T; Richer J; Désir J; Kempers M; Rideout AL; Horne G; Bennett C; Rahikkala E; Vandeweyer G; Alaerts M; Verstraeten A; Dietz H; Van Laer L; Loeys B
    Hum Mutat; 2018 May; 39(5):621-634. PubMed ID: 29392890
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
    Camerota L; Ritelli M; Wischmeijer A; Majore S; Cinquina V; Fortugno P; Monetta R; Gigante L; Marfan Syndrome Study Group Tor Vergata University Hospital ; Sangiuolo FC; Novelli G; Colombi M; Brancati F
    Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31569402
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
    Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G
    Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
    Ritelli M; Chiarelli N; Dordoni C; Quinzani S; Venturini M; Maroldi R; Calzavara-Pinton P; Colombi M
    BMC Med Genet; 2014 Aug; 15():91. PubMed ID: 25163805
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.
    Baskin SM; Morris SA; Vara A; Hecht JT; Farach LS
    Am J Med Genet A; 2020 Nov; 182(11):2755-2760. PubMed ID: 32935439
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loeys-Dietz syndrome.
    Van Laer L; Dietz H; Loeys B
    Adv Exp Med Biol; 2014; 802():95-105. PubMed ID: 24443023
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.
    Nistri S; De Cario R; Sticchi E; Spaziani G; Della Monica M; Giglio S; Favilli S; Giusti B; Stefano P; Pepe G
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680857
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
    Baldo F; Morra L; Feresin A; Faletra F; Al Naber Y; Memo L; Travan L
    Ital J Pediatr; 2022 Jun; 48(1):85. PubMed ID: 35668506
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
    Gouda P; Kay R; Habib M; Aziz A; Aziza E; Welsh R
    Int J Cardiol; 2022 Sep; 362():158-167. PubMed ID: 35662564
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a Pathogenic
    Luo X; Deng S; Jiang Y; Wang X; Al-Raimi AMA; Wu L; Liu X; Song Y; Chen X; Zhu F
    Front Genet; 2020; 11():479. PubMed ID: 32528524
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loeys-Dietz Syndrome.
    Velchev JD; Van Laer L; Luyckx I; Dietz H; Loeys B
    Adv Exp Med Biol; 2021; 1348():251-264. PubMed ID: 34807423
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ectopia lentis in Loeys-Dietz syndrome type 4.
    Braverman AC; Blinder KJ; Khanna S; Willing M
    Am J Med Genet A; 2020 Aug; 182(8):1957-1959. PubMed ID: 32462795
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
    Bertoli-Avella AM; Gillis E; Morisaki H; Verhagen JMA; de Graaf BM; van de Beek G; Gallo E; Kruithof BPT; Venselaar H; Myers LA; Laga S; Doyle AJ; Oswald G; van Cappellen GWA; Yamanaka I; van der Helm RM; Beverloo B; de Klein A; Pardo L; Lammens M; Evers C; Devriendt K; Dumoulein M; Timmermans J; Bruggenwirth HT; Verheijen F; Rodrigus I; Baynam G; Kempers M; Saenen J; Van Craenenbroeck EM; Minatoya K; Matsukawa R; Tsukube T; Kubo N; Hofstra R; Goumans MJ; Bekkers JA; Roos-Hesselink JW; van de Laar IMBH; Dietz HC; Van Laer L; Morisaki T; Wessels MW; Loeys BL
    J Am Coll Cardiol; 2015 Apr; 65(13):1324-1336. PubMed ID: 25835445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.
    MacFarlane EG; Parker SJ; Shin JY; Kang BE; Ziegler SG; Creamer TJ; Bagirzadeh R; Bedja D; Chen Y; Calderon JF; Weissler K; Frischmeyer-Guerrerio PA; Lindsay ME; Habashi JP; Dietz HC
    J Clin Invest; 2019 Feb; 129(2):659-675. PubMed ID: 30614814
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
    Lindsay ME; Schepers D; Bolar NA; Doyle JJ; Gallo E; Fert-Bober J; Kempers MJ; Fishman EK; Chen Y; Myers L; Bjeda D; Oswald G; Elias AF; Levy HP; Anderlid BM; Yang MH; Bongers EM; Timmermans J; Braverman AC; Canham N; Mortier GR; Brunner HG; Byers PH; Van Eyk J; Van Laer L; Dietz HC; Loeys BL
    Nat Genet; 2012 Jul; 44(8):922-7. PubMed ID: 22772368
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
    Drera B; Ritelli M; Zoppi N; Wischmeijer A; Gnoli M; Fattori R; Calzavara-Pinton PG; Barlati S; Colombi M
    Orphanet J Rare Dis; 2009 Nov; 4():24. PubMed ID: 19883511
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
    Leutermann R; Sheikhzadeh S; Brockstädt L; Rybczynski M; van Rahden V; Kutsche K; von Kodolitsch Y; Rosenberger G
    Eur J Hum Genet; 2014 Jul; 22(7):944-8. PubMed ID: 24193348
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
    Gallo EM; Loch DC; Habashi JP; Calderon JF; Chen Y; Bedja D; van Erp C; Gerber EE; Parker SJ; Sauls K; Judge DP; Cooke SK; Lindsay ME; Rouf R; Myers L; ap Rhys CM; Kent KC; Norris RA; Huso DL; Dietz HC
    J Clin Invest; 2014 Jan; 124(1):448-60. PubMed ID: 24355923
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
    Laterza D; Ritelli M; Zini A; Colombi M; Dell'Acqua ML; Vandelli L; Bigliardi G; Verganti L; Vallone S; Vincenzi C; Rosafio F; Ciolli L; Calabrese O; Nichelli PF; Picchetto L
    Eur J Med Genet; 2019 Oct; 62(10):103727. PubMed ID: 31326520
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 19.