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Items: 1 to 20 of 91

1.

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

Silva N, Costa M, Silva A, Sá C, Martins S, Antunes A, Marques O, Castedo S, Pereira A.

Endocrinol Nutr. 2013 Jan;60(1):33-6. doi: 10.1016/j.endonu.2012.07.002. Epub 2012 Sep 30.

PMID:
23031435
2.

A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.

Ekinci Z, Aytac MB, Cheong HI.

J Pediatr Endocrinol Metab. 2013;26(11-12):1197-200. doi: 10.1515/jpem-2013-0053.

PMID:
23813355
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;25(9-10):1035-9. doi: 10.1515/jpem-2012-0083.

PMID:
23426840
4.

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.

5.

Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1.

Schweiger B, Moriarty MW, Cadnapaphornchai MA.

Curr Opin Pediatr. 2009 Apr;21(2):269-71. doi: 10.1097/MOP.0b013e328325a55f.

PMID:
19657313
6.

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.

7.

Critical points in the management of pseudohypoaldosteronism type 1.

Güran T, Değirmenci S, Bulut İK, Say A, Riepe FG, Güran Ö.

J Clin Res Pediatr Endocrinol. 2011;3(2):98-100. doi: 10.4274/jcrpe.v3i2.20. Epub 2011 Jun 8.

8.

Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene.

Loomba-Albrecht LA, Nagel M, Bremer AA.

Horm Res Paediatr. 2010;73(6):482-6. doi: 10.1159/000281290. Epub 2010 Apr 24.

PMID:
20453518
9.

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.

10.

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
11.

A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.

Bonny O, Knoers N, Monnens L, Rossier BC.

Pediatr Nephrol. 2002 Oct;17(10):804-8. Epub 2002 Aug 21.

PMID:
12376807
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
13.

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP.

Nat Genet. 1996 Mar;12(3):248-53.

PMID:
8589714
14.
15.

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL, Antonini SR.

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

16.

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.

Mora-Lopez F, Bernal-Quiros M, Lechuga-Sancho AM, Lechuga-Campoy JL, Hernandez-Trujillo N, Nieto A.

Eur J Pediatr. 2012 Jun;171(6):997-1000. doi: 10.1007/s00431-012-1697-5. Epub 2012 Feb 28.

PMID:
22371258
17.

Pseudohypoaldosteronism.

Riepe FG.

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

PMID:
23392097
18.

Pseudohypoaldosteronism type II: history, arguments, answers, and still some questions.

Healy JK.

Hypertension. 2014 Apr;63(4):648-54. doi: 10.1161/HYPERTENSIONAHA.113.02187. Epub 2014 Jan 6. Review. No abstract available. Erratum in: Hypertension. 2014 Jun;63(6):e174.

19.

Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution.

Gomes MM, Martins S, Marques O, Silva ND, Antunes A.

Endocrinol Nutr. 2016 Nov;63(9):502-505. doi: 10.1016/j.endonu.2016.08.002. Epub 2016 Sep 18. English, Spanish. No abstract available.

PMID:
27651040
20.

Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit.

Thomas CP, Zhou J, Liu KZ, Mick VE, MacLaughlin E, Knowles M.

Am J Respir Cell Mol Biol. 2002 Sep;27(3):314-9.

PMID:
12204893

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