BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 32935439)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.
    Dekker S; Thijssen CGE; Linde DV; Vd Laar IMBH; Saris JJ; van Es ACGM; Doormaal PV; van Bronswijk P; van Kooten F; Roos-Hesselink JW
    Eur J Med Genet; 2022 Feb; 65(2):104424. PubMed ID: 35031499
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
    Baban A; Magliozzi M; Loeys B; Adorisio R; Alesi V; Secinaro A; Corica B; Vricella L; Dietz HC; Drago F; Novelli A; Amodeo A
    BMC Med Genet; 2018 Sep; 19(1):170. PubMed ID: 30219046
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome.
    Zaza P; Indrio F; Fracchiolla A; Rinaldi M; Meliota G; Salatto A; Bonacaro A; Maffei G
    Children (Basel); 2022 Aug; 9(9):. PubMed ID: 36138598
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
    Yang H; Ma Y; Luo M; Zhu G; Zhang Y; Li B; Shu C; Zhou Z
    Orphanet J Rare Dis; 2020 Jan; 15(1):6. PubMed ID: 31915033
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.
    Starr LJ; Lindsay ME; Lino Cardenas CL; Yetman AT
    Am J Med Genet A; 2023 Mar; 191(3):786-793. PubMed ID: 36584339
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.
    Ishii S; Fujiwara T; Yagi H; Takeda N; Ando M; Yamauchi H; Inuzuka R; Taniguchi Y; Hatano M; Komuro I
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2257. PubMed ID: 37864304
    [TBL] [Abstract][Full Text] [Related]  

  • 17. hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by
    Zhou D; Feng H; Yang Y; Huang T; Qiu P; Zhang C; Olsen TR; Zhang J; Chen YE; Mizrak D; Yang B
    Circulation; 2021 Oct; 144(14):1145-1159. PubMed ID: 34346740
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms.
    Huguenard AL; Johnson GW; Desai RR; Osbun JW; Dacey RG; Braverman AC
    J Neurosurg; 2023 May; 138(5):1385-1392. PubMed ID: 36308480
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 15.