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Journal Abstract Search

224 related items for PubMed ID: 31301676

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

  • 2. Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.
    Wang J, Yu T, Yin L, Li J, Yu L, Shen Y, Yu Y, Shen Y, Fu Q.
    PLoS One; 2013 Sep 25; 8(6):e65676. PubMed ID: 23762408
    [Abstract] [Full Text] [Related]

  • 3. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.
    Serra G, Antona V, D'Alessandro MM, Maggio MC, Verde V, Corsello G.
    Ital J Pediatr; 2021 Jun 16; 47(1):138. PubMed ID: 34134742
    [Abstract] [Full Text] [Related]

  • 4. Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.
    Saffari F, Bahadoran E, Homaei A, Moghbelinejad S.
    J Pediatr Endocrinol Metab; 2024 Aug 27; 37(8):745-749. PubMed ID: 38963175
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  • 5. [Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
    Fernandes-Rosa FL, Antonini SR.
    Arq Bras Endocrinol Metabol; 2007 Apr 27; 51(3):373-81. PubMed ID: 17546235
    [Abstract] [Full Text] [Related]

  • 6. Clinical and molecular features of type 1 pseudohypoaldosteronism.
    Riepe FG.
    Horm Res; 2009 Apr 27; 72(1):1-9. PubMed ID: 19571553
    [Abstract] [Full Text] [Related]

  • 7. Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.
    Cayir A, Demirelli Y, Yildiz D, Kahveci H, Yarali O, Kurnaz E, Vuralli D, Demirbilek H.
    Horm Res Paediatr; 2019 Apr 27; 91(3):175-185. PubMed ID: 31018202
    [Abstract] [Full Text] [Related]

  • 8. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
    Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N.
    J Clin Endocrinol Metab; 2006 Nov 27; 91(11):4552-61. PubMed ID: 16954160
    [Abstract] [Full Text] [Related]

  • 9. 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 27; 85(12):4690-4. PubMed ID: 11134129
    [Abstract] [Full Text] [Related]

  • 10. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
    Welzel M, Akin L, Büscher A, Güran T, Hauffa BP, Högler W, Leonards J, Karges B, Kentrup H, Kirel B, Senses EE, Tekin N, Holterhus PM, Riepe FG.
    Eur J Endocrinol; 2013 May 27; 168(5):707-15. PubMed ID: 23416952
    [Abstract] [Full Text] [Related]

  • 11. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.
    Ekinci Z, Aytac MB, Cheong HI.
    J Pediatr Endocrinol Metab; 2013 May 27; 26(11-12):1197-200. PubMed ID: 23813355
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  • 13. Pseudohypoaldosteronism.
    Riepe FG.
    Endocr Dev; 2013 May 27; 24():86-95. PubMed ID: 23392097
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  • 16. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
    Dirlewanger M, Huser D, Zennaro MC, Girardin E, Schild L, Schwitzgebel VM.
    Am J Physiol Endocrinol Metab; 2011 Sep 27; 301(3):E467-73. PubMed ID: 21653223
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  • 17. Mineralocorticoid resistance.
    Zennaro MC, Lombès M.
    Trends Endocrinol Metab; 2004 Aug 27; 15(6):264-70. PubMed ID: 15358279
    [Abstract] [Full Text] [Related]

  • 18. Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.
    Hatta Y, Nakamura A, Hara S, Kamijo T, Iwata J, Hamajima T, Abe M, Okada M, Ushio M, Tsuyuki K, Tajima T.
    Endocr J; 2013 Aug 27; 60(3):299-304. PubMed ID: 23197115
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  • 19. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
    Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabò S, Baronio F, Riepe FG.
    Eur J Endocrinol; 2007 Feb 27; 156(2):249-56. PubMed ID: 17287415
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