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Items: 1 to 20 of 112

1.

Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.

Hubert EL, Teissier R, Fernandes-Rosa FL, Fay M, Rafestin-Oblin ME, Jeunemaitre X, Metz C, Escoubet B, Zennaro MC.

J Am Soc Nephrol. 2011 Nov;22(11):1997-2003. doi: 10.1681/ASN.2011030245. Epub 2011 Sep 8.

2.

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.

PMID:
15126534
3.

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL, Antonini SR.

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

4.

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;91(11):4552-61. Epub 2006 Sep 5.

PMID:
16954160
5.

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

Kawashima Sonoyama Y, Tajima T, Fujimoto M, Hasegawa A, Miyahara N, Nishimura R, Hashida Y, Hayashi A, Hanaki K, Kanzaki S.

Endocr J. 2017 Jan 30;64(1):83-90. doi: 10.1507/endocrj.EJ16-0280. Epub 2016 Oct 5.

6.

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
7.

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.

PMID:
11134129
8.

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
9.

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;60(3):299-304. Epub 2012 Nov 30.

10.

Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.

Fernandes-Rosa FL, Hubert EL, Fagart J, Tchitchek N, Gomes D, Jouanno E, Benecke A, Rafestin-Oblin ME, Jeunemaitre X, Antonini SR, Zennaro MC.

J Clin Endocrinol Metab. 2011 Mar;96(3):E519-27. doi: 10.1210/jc.2010-1486. Epub 2010 Dec 15.

PMID:
21159846
11.

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
12.

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC, Fernandes-Rosa F.

J Endocrinol. 2017 Jul;234(1):T93-T106. doi: 10.1530/JOE-17-0089. Epub 2017 Mar 27. Review.

13.

A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).

Nyström AM, Bondeson ML, Skanke N, Mårtensson J, Strömberg B, Gustafsson J, Annerén G.

J Clin Endocrinol Metab. 2004 Jan;89(1):227-31.

PMID:
14715854
14.

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
15.

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombès M, Zennaro MC.

J Clin Endocrinol Metab. 2003 Jun;88(6):2508-17.

PMID:
12788847
16.

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;156(2):249-56.

17.

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.

18.

No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism.

Zennaro MC, Borensztein P, Jeunemaitre X, Armanini D, Soubrier F.

J Clin Endocrinol Metab. 1994 Jul;79(1):32-8.

PMID:
8027248
19.

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
20.

Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy.

O'Connell SM, Johnson SR, Lewis BD, Staltari L, Peverall J, Ly T, Martin AC, Jones TW, Price GJ, Murch A, Choong CS.

J Pediatr Endocrinol Metab. 2011;24(7-8):555-9.

PMID:
21932599

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