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Journal Abstract Search

173 related items for PubMed ID: 11344206

  • 1. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
    Viemann M, Peter M, López-Siguero JP, Simic-Schleicher G, Sippell WG.
    J Clin Endocrinol Metab; 2001 May; 86(5):2056-9. PubMed ID: 11344206
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  • 4. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
    Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K.
    J Clin Endocrinol Metab; 2000 Dec; 85(12):4690-4. PubMed ID: 11134129
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  • 9. Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.
    Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ.
    J Clin Endocrinol Metab; 2004 May; 89(5):2150-2. PubMed ID: 15126534
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  • 11. Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
    Chung E, Hanukoglu A, Rees M, Thompson R, Dillon M, Hanukoglu I, Bistritzer T, Kuhnle U, Seckl J, Gardiner RM.
    J Clin Endocrinol Metab; 1995 Nov; 80(11):3341-5. PubMed ID: 7593448
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  • 12. Mineralocorticoid resistance.
    Zennaro MC, Lombès M.
    Trends Endocrinol Metab; 2004 Aug; 15(6):264-70. PubMed ID: 15358279
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  • 13. A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.
    Uchida N, Shiohara M, Miyagawa S, Yokota I, Mori T.
    J Pediatr Endocrinol Metab; 2009 Jan; 22(1):91-5. PubMed ID: 19344080
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  • 17. Pseudohypoaldosteronisms, report on a 10-patient series.
    Belot A, Ranchin B, Fichtner C, Pujo L, Rossier BC, Liutkus A, Morlat C, Nicolino M, Zennaro MC, Cochat P.
    Nephrol Dial Transplant; 2008 May; 23(5):1636-41. PubMed ID: 18424465
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  • 19. [Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor].
    Arai K, Shibasaki T.
    Nihon Rinsho; 2002 Feb; 60(2):361-6. PubMed ID: 11857927
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