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Journal Abstract Search

160 related items for PubMed ID: 31023660

  • 1. 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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  • 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. 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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  • 7. 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 04; 75():549-56. PubMed ID: 23727526
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  • 8. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
    Wang Z, Sun L, Wang P, Chen C, Zhang A, Wang W, Ding X.
    Ophthalmic Genet; 2019 Feb 04; 40(1):54-59. PubMed ID: 30767687
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  • 11. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.
    Dwarakanathan A, Bhat M, Gn S, Shetty S.
    Clin Dysmorphol; 2015 Oct 04; 24(4):159-62. PubMed ID: 26087145
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  • 15. [Genetic study of a pedigree affected with oculodentodigital dysplasia].
    Gu L, Zhu Y, Zhu X, Li J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1191-1194. PubMed ID: 31813145
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  • 17. Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
    Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK.
    Ann Clin Lab Sci; 2018 Nov 10; 48(6):776-781. PubMed ID: 30610049
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