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Journal Abstract Search

249 related items for PubMed ID: 28446798

  • 1. Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
    Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.
    J Hum Genet; 2017 Sep; 62(9):851-855. PubMed ID: 28446798
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  • 8. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
    Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.
    Circ Cardiovasc Genet; 2015 Aug; 8(4):572-581. PubMed ID: 25963545
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  • 14. Adams-Oliver syndrome associated with refractory glaucoma.
    Pillai MR, Pabolu C, R R, Chaudhary S, Sr K, Puthuran GV.
    J AAPOS; 2024 Aug; 28(4):103950. PubMed ID: 38866321
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  • 20. Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
    Isrie M, Wuyts W, Van Esch H, Devriendt K.
    Am J Med Genet A; 2014 Jun; 164A(6):1576-9. PubMed ID: 24668619
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