These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

190 related items for PubMed ID: 30053862

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 11; 49(10):1529-1538. PubMed ID: 28805828
    [Abstract] [Full Text] [Related]

  • 4. 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 11; 43(12):1866-1871. PubMed ID: 36116039
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.
    Treimer E, Niedermayer K, Schumann S, Zenker M, Schmeisser MJ, Kühl SJ.
    Gene Expr Patterns; 2021 Dec 11; 42():119215. PubMed ID: 34619372
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
    Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG.
    Am J Med Genet A; 2016 Apr 11; 170A(4):992-8. PubMed ID: 27001912
    [Abstract] [Full Text] [Related]

  • 13. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
    Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C.
    Am J Hum Genet; 2014 Dec 04; 95(6):637-48. PubMed ID: 25466283
    [Abstract] [Full Text] [Related]

  • 14. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
    Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G.
    Nat Commun; 2019 Sep 03; 10(1):3967. PubMed ID: 31481669
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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 03; 523():297-303. PubMed ID: 34666032
    [Abstract] [Full Text] [Related]

  • 17. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
    Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA.
    Brain; 2015 Aug 03; 138(Pt 8):2173-90. PubMed ID: 26070982
    [Abstract] [Full Text] [Related]

  • 18. 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 Aug 03; 12():1360867. PubMed ID: 38628357
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 Aug 03; 13(1):148-155. PubMed ID: 37900929
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.