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Journal Abstract Search

279 related items for PubMed ID: 25466283

  • 1. 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]

  • 2. 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 04; 170A(4):992-8. PubMed ID: 27001912
    [Abstract] [Full Text] [Related]

  • 3. 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 04; 54(6):399-403. PubMed ID: 28280135
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 138(Pt 8):2173-90. PubMed ID: 26070982
    [Abstract] [Full Text] [Related]

  • 5. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
    Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M.
    Hum Mutat; 2015 Nov 04; 36(11):1021-8. PubMed ID: 26123727
    [Abstract] [Full Text] [Related]

  • 6. WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
    El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R.
    Eur J Med Genet; 2019 Sep 04; 62(9):103550. PubMed ID: 30315938
    [Abstract] [Full Text] [Related]

  • 7. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
    Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V.
    J Med Genet; 2015 Jun 04; 52(6):381-90. PubMed ID: 25873735
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 84(6):814-828. PubMed ID: 30427554
    [Abstract] [Full Text] [Related]

  • 9. Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
    Tilley FC, Arrondel C, Chhuon C, Boisson M, Cagnard N, Parisot M, Menara G, Lefort N, Guerrera IC, Bole-Feysot C, Benmerah A, Antignac C, Mollet G.
    Sci Rep; 2021 Mar 08; 11(1):5388. PubMed ID: 33686175
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 27; 176(11):2460-2465. PubMed ID: 30079490
    [Abstract] [Full Text] [Related]

  • 15. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.
    Clin Chim Acta; 2017 Jan 27; 464():24-29. PubMed ID: 27983999
    [Abstract] [Full Text] [Related]

  • 16. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
    Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M.
    BMC Ophthalmol; 2018 Jun 22; 18(1):147. PubMed ID: 29929488
    [Abstract] [Full Text] [Related]

  • 17. Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.
    Naidu GD, Deepthi P, RajaKarthik K, Sriram S, Swarnalatha G, Gangadhar T.
    Saudi J Kidney Dis Transpl; 2017 Jun 22; 28(5):1188-1191. PubMed ID: 28937085
    [Abstract] [Full Text] [Related]

  • 18. A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
    Racine J, Golden R.
    Doc Ophthalmol; 2021 Aug 22; 143(1):75-83. PubMed ID: 33548032
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 49(10):1529-1538. PubMed ID: 28805828
    [Abstract] [Full Text] [Related]

  • 20. Galloway-Mowat syndrome: neurologic features in two sibling pairs.
    Ekstrand JJ, Friedman AL, Stafstrom CE.
    Pediatr Neurol; 2012 Aug 22; 47(2):129-32. PubMed ID: 22759691
    [Abstract] [Full Text] [Related]

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