These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

177 related items for PubMed ID: 23762408

  • 1. 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; 8(6):e65676. PubMed ID: 23762408
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.
    Dogan CS, Erdem D, Mesut P, Merve A, Sema A, Iffet B, Afig B.
    J Pediatr Endocrinol Metab; 2012 Jun 16; 25(9-10):1035-9. PubMed ID: 23426840
    [Abstract] [Full Text] [Related]

  • 4. 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 16; 168(5):707-15. PubMed ID: 23416952
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Sep 25; 91(3):175-185. PubMed ID: 31018202
    [Abstract] [Full Text] [Related]

  • 7. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.
    Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, Tajima T, Fujieda K.
    J Clin Endocrinol Metab; 2001 Jan 25; 86(1):9-12. PubMed ID: 11231969
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 301(3):E467-73. PubMed ID: 21653223
    [Abstract] [Full Text] [Related]

  • 9. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.
    Ekinci Z, Aytac MB, Cheong HI.
    J Pediatr Endocrinol Metab; 2013 Sep 25; 26(11-12):1197-200. PubMed ID: 23813355
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. 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 27; 19(3):279-81. PubMed ID: 9662404
    [Abstract] [Full Text] [Related]

  • 13. [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]

  • 14. 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]

  • 15. A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
    Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, Chrousos G, Schild L, Chrysis D.
    Am J Physiol Endocrinol Metab; 2023 Jul 01; 325(1):E1-E9. PubMed ID: 37134141
    [Abstract] [Full Text] [Related]

  • 16. Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes.
    Jeong HA, Park YK, Jung YS, Nam MH, Nam HK, Lee KH, Rhie YJ.
    Ann Pediatr Endocrinol Metab; 2015 Dec 01; 20(4):230-4. PubMed ID: 26817011
    [Abstract] [Full Text] [Related]

  • 17. Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.
    Riepe FG, Holterhus PM.
    Am J Nephrol; 2007 Dec 01; 27(2):164-9. PubMed ID: 17317952
    [Abstract] [Full Text] [Related]

  • 18. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
    Strautnieks SS, Thompson RJ, Gardiner RM, Chung E.
    Nat Genet; 1996 Jun 01; 13(2):248-50. PubMed ID: 8640238
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 01; 85(12):4690-4. PubMed ID: 11134129
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.