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Journal Abstract Search

309 related items for PubMed ID: 24239381

  • 1. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
    Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.
    Am J Hum Genet; 2013 Dec 05; 93(6):1001-14. PubMed ID: 24239381
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  • 3. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
    Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM.
    Orphanet J Rare Dis; 2014 Oct 21; 9():113. PubMed ID: 25332050
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  • 8. Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
    Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.
    Am J Hum Genet; 2011 Apr 08; 88(4):499-507. PubMed ID: 21473985
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  • 11. The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
    Takáts S, Lévay L, Boda A, Tóth S, Simon-Vecsei Z, Rubics A, Varga Á, Lippai M, Lőrincz P, Glatz G, Juhász G.
    FEBS J; 2021 Jan 08; 288(1):190-211. PubMed ID: 32248620
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  • 17. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
    Kabzińska D, Mierzewska H, Senderek J, Kochański A.
    Folia Neuropathol; 2016 Jan 08; 54(3):273-281. PubMed ID: 27764520
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  • 20. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
    Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P.
    Am J Med Genet A; 2016 Jul 08; 170(7):1843-8. PubMed ID: 27256633
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