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Pubmed for Handhelds

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Journal Abstract Search

219 related items for PubMed ID: 16954160

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  • 3. Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
    Fernandes-Rosa FL, Hubert EL, Fagart J, Tchitchek N, Gomes D, Jouanno E, Benecke A, Rafestin-Oblin ME, Jeunemaitre X, Antonini SR, Zennaro MC.
    J Clin Endocrinol Metab; 2011 Mar; 96(3):E519-27. PubMed ID: 21159846
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  • 4. A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
    Kawashima Sonoyama Y, Tajima T, Fujimoto M, Hasegawa A, Miyahara N, Nishimura R, Hashida Y, Hayashi A, Hanaki K, Kanzaki S.
    Endocr J; 2017 Jan 30; 64(1):83-90. PubMed ID: 27725360
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  • 7. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
    Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombès M, Zennaro MC.
    J Clin Endocrinol Metab; 2003 Jun 30; 88(6):2508-17. PubMed ID: 12788847
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  • 9. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
    Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP.
    Nat Genet; 1998 Jul 30; 19(3):279-81. PubMed ID: 9662404
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  • 11. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).
    Nyström AM, Bondeson ML, Skanke N, Mårtensson J, Strömberg B, Gustafsson J, Annerén G.
    J Clin Endocrinol Metab; 2004 Jan 30; 89(1):227-31. PubMed ID: 14715854
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  • 12. Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
    Hubert EL, Teissier R, Fernandes-Rosa FL, Fay M, Rafestin-Oblin ME, Jeunemaitre X, Metz C, Escoubet B, Zennaro MC.
    J Am Soc Nephrol; 2011 Nov 30; 22(11):1997-2003. PubMed ID: 21903996
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  • 13. [Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
    Fernandes-Rosa FL, Antonini SR.
    Arq Bras Endocrinol Metabol; 2007 Apr 30; 51(3):373-81. PubMed ID: 17546235
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  • 14. Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.
    Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR.
    J Clin Endocrinol Metab; 2006 Sep 30; 91(9):3671-5. PubMed ID: 16757525
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  • 16. [Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor].
    Arai K, Shibasaki T.
    Nihon Rinsho; 2002 Feb 30; 60(2):361-6. PubMed ID: 11857927
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  • 20. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
    Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P.
    J Pediatr Endocrinol Metab; 2019 Sep 25; 32(9):959-967. PubMed ID: 31301676
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