BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 30474650)

  • 1. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
    Legrand A; Devriese M; Dupuis-Girod S; Simian C; Venisse A; Mazzella JM; Auribault K; Adham S; Frank M; Albuisson J; Jeunemaitre X
    Genet Med; 2019 Jul; 21(7):1568-1575. PubMed ID: 30474650
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
    Shalhub S; Byers PH; Hicks KL; Coleman DM; Davis FM; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Charlton-Ouw K; Behrendt CA; Debus ES; von Kodolitsch Y; Zarkowsky D; Powell RJ; Pepin M; Milewicz DM; Regalado ES; Lawrence PF; Woo K
    J Vasc Surg; 2020 Jan; 71(1):149-157. PubMed ID: 31353273
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
    Ghali N; Baker D; Brady AF; Burrows N; Cervi E; Cilliers D; Frank M; Germain DP; Hulmes DJS; Jacquemont ML; Kannu P; Lefroy H; Legrand A; Pope FM; Robertson L; Vandersteen A; von Klemperer K; Warburton R; Whiteford M; van Dijk FS
    Genet Med; 2019 Sep; 21(9):2081-2091. PubMed ID: 30837697
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Frequency of
    Vado Y; Pereda A; Manero-Azua A; ; Perez de Nanclares G
    Front Endocrinol (Lausanne); 2022; 13():1055431. PubMed ID: 36686455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
    Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
    J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
    Yagi H; Takeda N; Amiya E; Akiyama N; Chang H; Ishiura H; Sato J; Akazawa H; Morita H; Komuro I
    Am J Med Genet A; 2022 Sep; 188(9):2777-2782. PubMed ID: 35543214
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
    Shalhub S; Nkansah R; El-Ghazali A; Hillenbrand CJ; Vaidya SS; Schwarze U; Byers PH
    J Vasc Surg; 2023 Aug; 78(2):394-404. PubMed ID: 37068529
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.
    Heo WY; Jang SY; Park TK; Ki CS; Kim JW; Kim DK; Jang JH
    Mol Genet Genomic Med; 2023 Sep; 11(9):e2240. PubMed ID: 37461200
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gonosomal Mosaicism for a Novel
    Micale L; Foiadelli T; Russo F; Cinque L; Bassanese F; Granatiero M; Fusco C; Savasta S; Castori M
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
    Cortini F; Marinelli B; Romi S; Seresini A; Pesatori AC; Seia M; Montano N; Bassotti A
    Vasc Endovascular Surg; 2017 Apr; 51(3):141-145. PubMed ID: 28183226
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Baas AF; Spiering W; Moll FL; Page-Christiaens L; Beenakkers IC; Dooijes D; Vonken EP; van der Smagt JJ; Knoers NV; Koenen SV; van Herwaarden JA; Sieswerda GT
    Am J Med Genet A; 2017 Feb; 173(2):519-523. PubMed ID: 28102592
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
    Ruscitti F; Trevisan L; Rosti G; Gotta F; Cianflone A; Geroldi A; Origone P; Pichiecchio A; Viglio S; Iascone M; Mandich P
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1753. PubMed ID: 34318601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
    Cortini F; Marinelli B; Seia M; De Giorgio B; Pesatori AC; Montano N; Bassotti A
    J Med Case Rep; 2016 Oct; 10(1):303. PubMed ID: 27799058
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
    Gu G; Yang H; Cui L; Fu Y; Li F; Zhou Z; Zheng Y
    Vasc Endovascular Surg; 2018 Feb; 52(2):138-142. PubMed ID: 29216800
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
    Wan T; Ye J; Wu P; Cheng M; Jiang B; Wang H; Li J; Ma J; Wang L; Huang X
    BMC Pulm Med; 2020 May; 20(1):149. PubMed ID: 32471395
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.
    Callaghan MB; Hadden R; King JS; Lachlan K; van Dijk FS; Turnpenny PD
    Am J Med Genet A; 2020 Mar; 182(3):553-556. PubMed ID: 31833208
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
    Olson SL; Murray ML; Skeik N
    Ann Vasc Surg; 2019 Nov; 61():472.e9-472.e13. PubMed ID: 31394236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics.
    Doherty EL; Aw WY; Warren EC; Hockenberry M; Whitworth CP; Krohn G; Howell S; Diekman BO; Legant WR; Nia HT; Hickey AJ; Polacheck WJ
    Acta Biomater; 2023 Aug; 166():346-359. PubMed ID: 37187299
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
    Yamaguchi T; Hayashi S; Hayashi D; Matsuyama T; Koitabashi N; Ogiwara K; Noda M; Nakada C; Fujiki S; Furutachi A; Tanabe Y; Yamanaka M; Ishikawa A; Mizukami M; Mizuguchi A; Sugiura K; Sumi M; Yamazawa H; Izawa A; Wada Y; Fujikawa T; Takiguchi Y; Wakui K; Takano K; Nishio SY; Kosho T
    Am J Med Genet A; 2023 Jan; 191(1):37-51. PubMed ID: 36189931
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 12.