Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 228

1.

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG.

Horm Res. 2009;72(1):1-9. doi: 10.1159/000224334. Epub 2009 Jun 30. Review.

PMID:
19571553
[PubMed - indexed for MEDLINE]
2.

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL, Antonini SR.

Arq Bras Endocrinol Metabol. 2007 Apr;51(3):373-81. Review. Portuguese.

PMID:
17546235
[PubMed - indexed for MEDLINE]
Free Article
3.

Mineralocorticoid resistance.

Zennaro MC, Lombès M.

Trends Endocrinol Metab. 2004 Aug;15(6):264-70. Review.

PMID:
15358279
[PubMed - indexed for MEDLINE]
4.

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L.

Clin Endocrinol (Oxf). 2009 Feb;70(2):252-8. doi: 10.1111/j.1365-2265.2008.03314.x.

PMID:
18547339
[PubMed - indexed for MEDLINE]
5.

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;19(3):279-81.

PMID:
9662404
[PubMed - indexed for MEDLINE]
6.

Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

Hanukoglu A, Edelheit O, Shriki Y, Gizewska M, Dascal N, Hanukoglu I.

J Steroid Biochem Mol Biol. 2008 Sep;111(3-5):268-74. doi: 10.1016/j.jsbmb.2008.06.013. Epub 2008 Jun 26.

PMID:
18634878
[PubMed - indexed for MEDLINE]
7.

Aldosterone resistance: structural and functional considerations and new perspectives.

Zennaro MC, Hubert EL, Fernandes-Rosa FL.

Mol Cell Endocrinol. 2012 Mar 24;350(2):206-15. doi: 10.1016/j.mce.2011.04.023. Epub 2011 Jun 1. Review.

PMID:
21664233
[PubMed - indexed for MEDLINE]
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;301(3):E467-73. doi: 10.​1152/​ajpendo.​00066.​2011. Epub 2011 Jun 7.

PMID:
21653223
[PubMed - indexed for MEDLINE]
Free Article
9.

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Pujo L, Fagart J, Gary F, Papadimitriou DT, Claës A, Jeunemaître X, Zennaro MC.

Hum Mutat. 2007 Jan;28(1):33-40.

PMID:
16972228
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
19344080
[PubMed - indexed for MEDLINE]
11.

Pseudohypoaldosteronism.

Riepe FG.

Endocr Dev. 2013;24:86-95. doi: 10.1159/000342508. Epub 2013 Feb 1. Review.

PMID:
23392097
[PubMed - indexed for MEDLINE]
12.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1093/ndt/gfm862.

PMID:
18424465
[PubMed - indexed for MEDLINE]
Free Article
14.

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 Apr 15;168(5):707-15. doi: 10.1530/EJE-12-1000. Print 2013 May.

PMID:
23416952
[PubMed - indexed for MEDLINE]
Free Article
15.

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 Jun 6;8(6):e65676. doi: 10.1371/journal.pone.0065676. Print 2013.

PMID:
23762408
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.

Sartorato P, Khaldi Y, Lapeyraque AL, Armanini D, Kuhnle U, Salomon R, Caprio M, Viengchareun S, Lombès M, Zennaro MC.

Mol Cell Endocrinol. 2004 Mar 31;217(1-2):119-25. Review.

PMID:
15134810
[PubMed - indexed for MEDLINE]
17.

Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.

Edelheit O, Hanukoglu I, Shriki Y, Tfilin M, Dascal N, Gillis D, Hanukoglu A.

J Steroid Biochem Mol Biol. 2010 Mar;119(1-2):84-8. doi: 10.1016/j.jsbmb.2010.01.002. Epub 2010 Jan 12.

PMID:
20064610
[PubMed - indexed for MEDLINE]
18.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.

Lee SE, Jung YH, Han KH, Lee HK, Kang HG, Ha IS, Choi Y, Cheong HI.

Korean J Pediatr. 2011 Feb;54(2):90-3. doi: 10.3345/kjp.2011.54.2.90. Epub 2011 Feb 28.

PMID:
21503203
[PubMed]
Free PMC Article
19.
20.

[Monogenic hypertension].

Bähr V, Oelkers W, Diederich S.

Med Klin (Munich). 2003 Apr 15;98(4):208-17. Review. German.

PMID:
12715144
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk