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152 related items for PubMed ID: 36755238

  • 1. Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.
    Chen Y, Yang Y, Yang Y, Rao J, Bai H.
    BMC Nephrol; 2023 Feb 08; 24(1):29. PubMed ID: 36755238
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  • 2. Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.
    Huang L, Zhang X, Zhang Y, Wang Y, Mao J.
    Case Rep Nephrol Dial; 2023 Feb 08; 13(1):148-155. PubMed ID: 37900929
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  • 3. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
    Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E.
    BMC Nephrol; 2019 Apr 11; 20(1):126. PubMed ID: 30975089
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  • 4. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
    Hyun HS, Kim SH, Park E, Cho MH, Kang HG, Lee HS, Miyake N, Matsumoto N, Tsukaguchi H, Cheong HI.
    BMC Med Genet; 2018 Jul 27; 19(1):131. PubMed ID: 30053862
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  • 5. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
    Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG.
    J Med Genet; 2017 Jun 27; 54(6):399-403. PubMed ID: 28280135
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  • 6. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
    Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD.
    Orphanet J Rare Dis; 2018 Dec 17; 13(1):226. PubMed ID: 30558655
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  • 7. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
    Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N.
    Ann Neurol; 2018 Dec 17; 84(6):814-828. PubMed ID: 30427554
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  • 9. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
    Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.
    Nat Genet; 2017 Oct 17; 49(10):1529-1538. PubMed ID: 28805828
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  • 10. Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.
    Treimer E, Kalayci T, Schumann S, Suer I, Greco S, Schanze D, Schmeisser MJ, Kühl SJ, Zenker M.
    Hum Mutat; 2022 Dec 17; 43(12):1866-1871. PubMed ID: 36116039
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  • 11. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
    Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F.
    Am J Med Genet A; 2018 Nov 17; 176(11):2460-2465. PubMed ID: 30079490
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  • 16. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
    Hiraide T, Hayashi T, Ito Y, Urushibata R, Uchida H, Kitagata R, Ishigaki H, Ogata T, Saitsu H, Fukuda T.
    Front Pediatr; 2024 Nov 17; 12():1360867. PubMed ID: 38628357
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  • 17. Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.
    Teng H, Liang C, Liang D, Li Z, Wu L.
    Clin Chim Acta; 2021 Dec 17; 523():297-303. PubMed ID: 34666032
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  • 18. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
    Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F.
    J Am Soc Nephrol; 2021 Mar 17; 32(3):580-596. PubMed ID: 33593823
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  • 19. An unusual case of nephrotic syndrome in a microcephalic infant: Answers.
    Baker E, Weaver D, Massengill S, Mittag D, Juusola J, Demmer L.
    Pediatr Nephrol; 2019 Nov 17; 34(11):2327-2329. PubMed ID: 31069511
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  • 20. Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.
    Esmaeilzadeh E, Moradi A, Khorram Khorshid HR.
    CEN Case Rep; 2023 Nov 17; 12(4):374-377. PubMed ID: 36856752
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