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383 related items for PubMed ID: 31323331

  • 1. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
    Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, Horne SG, Vandersteen A.
    Eur J Med Genet; 2020 Feb; 63(2):103730. PubMed ID: 31323331
    [Abstract] [Full Text] [Related]

  • 2. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
    Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M.
    Am J Med Genet A; 2017 Feb; 173(2):524-530. PubMed ID: 28102596
    [Abstract] [Full Text] [Related]

  • 3. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
    Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M.
    Orphanet J Rare Dis; 2020 Jul 31; 15(1):197. PubMed ID: 32736638
    [Abstract] [Full Text] [Related]

  • 4. Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
    Adham S, Dupuis-Girod S, Charpentier E, Mazzella JM, Jeunemaitre X, Legrand A.
    Clin Genet; 2020 Feb 31; 97(2):357-361. PubMed ID: 31531849
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
    Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M.
    Orphanet J Rare Dis; 2013 Apr 12; 8():58. PubMed ID: 23587214
    [Abstract] [Full Text] [Related]

  • 6. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
    Ritelli M, Cinquina V, Venturini M, Colombi M.
    Mol Genet Genomic Med; 2020 Oct 12; 8(10):e1422. PubMed ID: 32720758
    [Abstract] [Full Text] [Related]

  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Malfait F, Symoens S, Syx D.
    ; 1993 Oct 12. PubMed ID: 20301422
    [Abstract] [Full Text] [Related]

  • 8. Arterial complications in classical Ehlers-Danlos syndrome: a case series.
    Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N.
    J Med Genet; 2020 Nov 12; 57(11):769-776. PubMed ID: 32467296
    [Abstract] [Full Text] [Related]

  • 9. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
    Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS.
    Am J Med Genet A; 2020 May 12; 182(5):994-1007. PubMed ID: 32091183
    [Abstract] [Full Text] [Related]

  • 10. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.
    Lin Z, Zeng J, Wang X.
    Biosci Rep; 2019 Jul 31; 39(7):. PubMed ID: 31239369
    [Abstract] [Full Text] [Related]

  • 11. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
    Colman M, Syx D, De Wandele I, Dhooge T, Symoens S, Malfait F.
    Hum Mutat; 2021 Oct 31; 42(10):1294-1306. PubMed ID: 34265140
    [Abstract] [Full Text] [Related]

  • 12. 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 31; 21(9):2081-2091. PubMed ID: 30837697
    [Abstract] [Full Text] [Related]

  • 13. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
    Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T.
    Am J Med Genet A; 2022 Sep 31; 188(9):2560-2575. PubMed ID: 35822426
    [Abstract] [Full Text] [Related]

  • 14. Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.
    Micale L, Foiadelli T, Russo F, Cinque L, Bassanese F, Granatiero M, Fusco C, Savasta S, Castori M.
    Genes (Basel); 2021 Nov 29; 12(12):. PubMed ID: 34946877
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
    Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M.
    PLoS One; 2019 Nov 29; 14(2):e0211647. PubMed ID: 30716086
    [Abstract] [Full Text] [Related]

  • 17. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
    Lavanya K, Mahtani K, Abbott J, Jain A, Selvam P, Atwal H, Farres H, Atwal PS.
    Am J Med Genet A; 2022 Jul 29; 188(7):2192-2197. PubMed ID: 35396906
    [Abstract] [Full Text] [Related]

  • 18. Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome.
    Caley L, Campar A, Mendonça T, Farinha F.
    Eur J Case Rep Intern Med; 2023 Jul 29; 10(2):003698. PubMed ID: 36970158
    [Abstract] [Full Text] [Related]

  • 19. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
    Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D.
    Am J Med Genet A; 2016 Apr 29; 170A(4):1080-5. PubMed ID: 26799614
    [Abstract] [Full Text] [Related]

  • 20. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
    Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M.
    Eur J Med Genet; 2018 Jan 29; 61(1):17-20. PubMed ID: 29024828
    [Abstract] [Full Text] [Related]

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