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Journal Abstract Search

211 related items for PubMed ID: 16532399

  • 21. A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.
    Zhou D, Wang Q, Liu H.
    Medicine (Baltimore); 2021 Jan 15; 100(2):e22902. PubMed ID: 33466118
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  • 24. 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 15; 170(7):1843-8. PubMed ID: 27256633
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  • 27. The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
    Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H.
    Autophagy; 2022 Mar 15; 18(3):496-517. PubMed ID: 34130600
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  • 28. Rab18 and a Rab18 GEF complex are required for normal ER structure.
    Gerondopoulos A, Bastos RN, Yoshimura S, Anderson R, Carpanini S, Aligianis I, Handley MT, Barr FA.
    J Cell Biol; 2014 Jun 09; 205(5):707-20. PubMed ID: 24891604
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  • 29. Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria.
    Tenawi S, Al Khudari R, Alasmar D.
    Oxf Med Case Reports; 2020 Apr 09; 2020(4):omaa031. PubMed ID: 32477580
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  • 30. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
    Mutlu Albayrak H, Elçioğlu NH, Yeter B, Karaer K.
    Am J Med Genet A; 2021 Aug 09; 185(8):2325-2334. PubMed ID: 33951304
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  • 31. Warburg Micro syndrome.
    Dursun F, Güven A, Morris-Rosendahl D.
    J Pediatr Endocrinol Metab; 2012 Aug 09; 25(3-4):379-82. PubMed ID: 22768674
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  • 33. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
    Sezer A, Kayhan G, Koç A, Ergün MA, Perçin FE.
    Cytogenet Genome Res; 2020 Aug 09; 160(6):309-315. PubMed ID: 32599602
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  • 34. Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.
    Sakane A, Manabe S, Ishizaki H, Tanaka-Okamoto M, Kiyokage E, Toida K, Yoshida T, Miyoshi J, Kamiya H, Takai Y, Sasaki T.
    Proc Natl Acad Sci U S A; 2006 Jun 27; 103(26):10029-34. PubMed ID: 16782817
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  • 35. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
    Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M, SYNAPS Study GroupQueen Square Institute of Neurology, University College London, London, UK., Aamir M, Nouman M, Houlden H.
    Int J Dev Neurosci; 2023 Jun 27; 83(4):368-373. PubMed ID: 37186309
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  • 36. 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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  • 37. FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.
    Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter MA.
    PLoS One; 2017 Dec 05; 12(6):e0178518. PubMed ID: 28575017
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  • 38. First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome.
    Akkuş N, Duman TA.
    J Pediatr Genet; 2023 Sep 05; 12(3):193-198. PubMed ID: 37575647
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  • 39. Warburg micro syndrome in two children from a highly inbred Turkish family.
    Yildirim MS, Zamani AG, Bozkurt B.
    Genet Couns; 2012 Sep 05; 23(2):169-74. PubMed ID: 22876574
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  • 40. [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].
    Yang D, Wang X, Yang J, Liu D, Li D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec 10; 37(12):1384-1386. PubMed ID: 33306828
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