BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 24194458)

  • 1. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
    Chung BH; Bradley T; Grosse-Wortmann L; Blaser S; Dirks P; Hinek A; Chitayat D
    Am J Med Genet A; 2014 Feb; 164A(2):461-6. PubMed ID: 24194458
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
    Barnett CP; Chitayat D; Bradley TJ; Wang Y; Hinek A
    Eur J Hum Genet; 2011 Jun; 19(6):624-33. PubMed ID: 21267002
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
    Valenzuela I; Fernández-Alvarez P; Munell F; Sanchez-Montanez A; Giralt G; Vendrell T; Tizzano EF
    Eur J Med Genet; 2017 Jun; 60(6):303-307. PubMed ID: 28344185
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.
    Breckpot J; Budts W; De Zegher F; Vermeesch JR; Devriendt K
    Eur J Med Genet; 2010; 53(6):408-10. PubMed ID: 20813212
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
    Ma BO; Song BG; Yang HJ; Jeon GJ; Lee JU; Kim TH; Kang GH; Park YH; Chun WJ; Oh JH
    Heart Lung Circ; 2012 Apr; 21(4):215-7. PubMed ID: 22325833
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
    Jamsheer A; Henggeler C; Wierzba J; Loeys B; De Paepe A; Stheneur Ch; Badziag N; Matuszewska K; Matyas G; Latos-Bielenska A
    J Appl Genet; 2009; 50(4):405-10. PubMed ID: 19875893
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
    Arslan-Kirchner M; Epplen JT; Faivre L; Jondeau G; Schmidtke J; De Paepe A; Loeys B
    Eur J Hum Genet; 2011 Oct; 19(10):. PubMed ID: 21522183
    [No Abstract]   [Full Text] [Related]  

  • 9. A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
    Tug E; Loeys B; De Paepe A; Aydin H; Gideroglu K
    Genet Couns; 2010; 21(2):225-32. PubMed ID: 20681224
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
    Pees C; Michel-Behnke I; Hagl M; Laccone F
    Clin Genet; 2014 Dec; 86(6):552-7. PubMed ID: 24199744
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].
    De Potter MJ; Edouard T; Amadieu R; Plaisancié J; Julia S; Hadeed K; Hascoët S; Acar P; Dulac Y
    Arch Pediatr; 2016 May; 23(5):504-7. PubMed ID: 27017362
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N; Lindberg BR; Kulseth MA; Fredwall SO; Lundby R; Estensen ME; Drolsum L; Merckoll E; Krohg-Sørensen K; Paus B
    BMC Med Genet; 2018 Aug; 19(1):155. PubMed ID: 30170566
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
    Muramatsu Y; Kosho T; Magota M; Yokotsuka T; Ito M; Yasuda A; Kito O; Suzuki C; Nagata Y; Kawai S; Ikoma M; Hatano T; Nakayama M; Kawamura R; Wakui K; Morisaki H; Morisaki T; Fukushima Y
    Am J Med Genet A; 2010 Feb; 152A(2):417-21. PubMed ID: 20101701
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Aneurysm syndromes caused by mutations in the TGF-beta receptor.
    Loeys BL; Schwarze U; Holm T; Callewaert BL; Thomas GH; Pannu H; De Backer JF; Oswald GL; Symoens S; Manouvrier S; Roberts AE; Faravelli F; Greco MA; Pyeritz RE; Milewicz DM; Coucke PJ; Cameron DE; Braverman AC; Byers PH; De Paepe AM; Dietz HC
    N Engl J Med; 2006 Aug; 355(8):788-98. PubMed ID: 16928994
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.
    Dewan AK; Tomlinson RE; Mitchell S; Goh BC; Yung RM; Kumar S; Tan EW; Faugere MC; Dietz HC; Clemens TL; Sponseller PD
    J Orthop Res; 2015 Oct; 33(10):1447-54. PubMed ID: 26173585
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
    Yang JH; Ki CS; Han H; Song BG; Jang SY; Chung TY; Sung K; Lee HJ; Kim DK
    J Hum Genet; 2012 Jan; 57(1):52-6. PubMed ID: 22113417
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.