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Journal Abstract Search

170 related items for PubMed ID: 31048294

  • 1. Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.
    Harting I, Karch S, Moog U, Seitz A, Pouwels PJW, Wolf NI.
    AJNR Am J Neuroradiol; 2019 May; 40(5):903-907. PubMed ID: 31048294
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  • 2. A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia.
    Cavusoglu D, Dundar NO, Arican P, Ozyilmaz B, Gencpinar P.
    Acta Neurol Belg; 2020 Oct; 120(5):1177-1179. PubMed ID: 31240666
    [No Abstract] [Full Text] [Related]

  • 3. Two novel GJA1 variants in oculodentodigital dysplasia.
    Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I.
    Mol Genet Genomic Med; 2019 Sep; 7(9):e882. PubMed ID: 31347275
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  • 4. Maxillo-facial radiology case 118. Oculodentodigital dysplasia.
    Nortjé CJ.
    SADJ; 2014 Mar; 69(2):76. PubMed ID: 24974522
    [No Abstract] [Full Text] [Related]

  • 5. Clinical manifestations of oculodentodigital dysplasia.
    Kayalvizhi G, Subramaniyan B, Suganya G.
    J Indian Soc Pedod Prev Dent; 2014 Mar; 32(4):350-2. PubMed ID: 25231047
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  • 6. GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
    Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.
    AJNR Am J Neuroradiol; 2019 May; 40(5):788-791. PubMed ID: 31023660
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  • 10. Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
    Kozoriz MG, Lai S, Vega JL, Sáez JC, Sin WC, Bechberger JF, Naus CC.
    Neuropharmacology; 2013 Dec; 75():549-56. PubMed ID: 23727526
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  • 12. Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.
    Ganos C, Münchau A, Holst B, Schlüter G, Gerloff C, Uyanik G.
    Neurology; 2012 Oct 16; 79(16):e140. PubMed ID: 23071171
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  • 13. Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.
    Abitbol JM, Kelly JJ, Barr KJ, Allman BL, Laird DW.
    J Cell Sci; 2018 May 04; 131(9):. PubMed ID: 29618634
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  • 16. Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
    Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW.
    Mol Biol Cell; 2016 Jul 15; 27(14):2172-85. PubMed ID: 27226478
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  • 17. [Neurological presentations of oculodentodigital dysplasia].
    Rudenskaya GE, Dyomina NA, Bliznetz EA, Khlebnikova OV, Dadaly EL, Polyakov AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2018 Jul 15; 118(5):85-91. PubMed ID: 29927410
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  • 18. Syndromic and non-syndromic disease-linked Cx43 mutations.
    Laird DW.
    FEBS Lett; 2014 Apr 17; 588(8):1339-48. PubMed ID: 24434540
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  • 19. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
    Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH.
    Am J Med Genet A; 2013 Dec 17; 161A(12):3150-4. PubMed ID: 24115525
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  • 20. Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.
    Huang T, Shao Q, Barr K, Simek J, Fishman GI, Laird DW.
    Biochem J; 2014 Feb 01; 457(3):441-9. PubMed ID: 24228978
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