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Journal Abstract Search

221 related items for PubMed ID: 30821104

  • 1. Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
    Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M.
    Am J Med Genet A; 2019 May; 179(5):846-851. PubMed ID: 30821104
    [Abstract] [Full Text] [Related]

  • 2. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
    Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.
    Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
    [Abstract] [Full Text] [Related]

  • 3. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
    Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.
    Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
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  • 4. 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; 188(9):2560-2575. PubMed ID: 35822426
    [Abstract] [Full Text] [Related]

  • 5. Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
    Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A.
    J Med Genet; 2006 Jul; 43(7):e36. PubMed ID: 16816023
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  • 6. 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; 182(5):994-1007. PubMed ID: 32091183
    [Abstract] [Full Text] [Related]

  • 7. COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
    Venable E, Knight DRT, Thoreson EK, Baudhuin LM.
    Am J Med Genet C Semin Med Genet; 2023 Jun; 193(2):147-159. PubMed ID: 36896471
    [Abstract] [Full Text] [Related]

  • 8. Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.
    Morabito LA, Allegri AEM, Capra AP, Capasso M, Capra V, Garaventa A, Maghnie M, Briuglia S, Wasniewska MG.
    Genes (Basel); 2022 Mar 25; 13(4):. PubMed ID: 35456387
    [Abstract] [Full Text] [Related]

  • 9. Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
    Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G.
    Ital J Pediatr; 2012 Nov 16; 38():65. PubMed ID: 23158907
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  • 10. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
    Carr AJ, Chiodo AA, Hilton JM, Chow CW, Hockey A, Cole WG.
    J Med Genet; 1994 Apr 16; 31(4):306-11. PubMed ID: 8071956
    [Abstract] [Full Text] [Related]

  • 11. 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 16; 170A(4):1080-5. PubMed ID: 26799614
    [Abstract] [Full Text] [Related]

  • 12. The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.
    Hatamochi A, Hamada T, Yoshino M, Hashimoto T.
    Gene; 2014 Mar 15; 538(1):199-203. PubMed ID: 24440294
    [Abstract] [Full Text] [Related]

  • 13. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
    Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A.
    Orphanet J Rare Dis; 2013 May 21; 8():78. PubMed ID: 23692737
    [Abstract] [Full Text] [Related]

  • 14. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.
    Hum Mutat; 2007 Apr 21; 28(4):387-95. PubMed ID: 17211858
    [Abstract] [Full Text] [Related]

  • 15. 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
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  • 17. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
    Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M.
    Am J Med Genet A; 2017 Jan 31; 173(1):169-176. PubMed ID: 27739212
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