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Pubmed for Handhelds

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Journal Abstract Search

143 related items for PubMed ID: 34480842

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  • 4. A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.
    Peces R, Peces C, Espinosa L, Mena R, Blanco C, Tenorio-Castaño J, Lapunzina P, Nevado J.
    Genes (Basel); 2023 Sep 27; 14(10):. PubMed ID: 37895227
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  • 5. A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.
    Tsuji S, Yamashita M, Unishi G, Takewa R, Kimata T, Isobe K, Chiga M, Uchida S, Kaneko K.
    BMC Nephrol; 2013 Jul 31; 14():166. PubMed ID: 23902721
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  • 8. [Does Gordon's syndrome always manifest as hypertension? - a case report of one family].
    Cichoń-Kawa K, Mizerska-Wasiak M, Cieślik M, Zaniew M, Pańczyk-Tomaszewska M.
    Pol Merkur Lekarski; 2019 Nov 29; 47(281):193-196. PubMed ID: 31812975
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  • 10. Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis.
    Sethar GH, Almoghawi A, Khan N, Altourah W, Ashour NM.
    J Coll Physicians Surg Pak; 2018 Mar 29; 28(3):S21-S22. PubMed ID: 29482694
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  • 13. A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.
    Etges A, Hellmig N, Walenda G, Haddad BG, Machtens JP, Morosan T, Rump LC, Scholl UI.
    Nephron; 2022 Mar 29; 146(4):418-428. PubMed ID: 35093948
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  • 14. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.
    Chatrathi HE, Collins JC, Wolfe LA, Markello TC, Adams DR, Gahl WA, Werner A, Sharma P.
    Hypertension; 2022 Jan 29; 79(1):60-75. PubMed ID: 34878901
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  • 15. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
    McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ.
    Am J Hum Genet; 2014 May 01; 94(5):734-44. PubMed ID: 24726473
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  • 16. Gordon syndrome: literature review and a report of two cases.
    Botha SJ, Bütow KW.
    Cleft Palate Craniofac J; 2015 Jan 01; 52(1):e18-22. PubMed ID: 24878349
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  • 17. A rare case of persistent hyperkalaemia.
    Lewis T, Roberts G, Zouwail S.
    Ann Clin Biochem; 2021 Nov 01; 58(6):661-665. PubMed ID: 34159796
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  • 19. Novel KLHL3 Variant in an Infant With Gordon Syndrome.
    Doan D, Chu C, Yancovich S, El-Dahr S, Baliga R.
    Clin Pediatr (Phila); 2020 Oct 01; 59(11):1011-1013. PubMed ID: 32462939
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  • 20. Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
    Yoshida S, Araki Y, Mori T, Sasaki E, Kasagi Y, Isobe K, Susa K, Inoue Y, Bomont P, Okado T, Rai T, Uchida S, Sohara E.
    Clin Exp Nephrol; 2018 Dec 01; 22(6):1251-1257. PubMed ID: 29869755
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