Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 186

1.

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
2.

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
3.

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
4.

Mineralocorticoid resistance.

Zennaro MC, Lombès M.

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

PMID:
15358279
5.

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
6.

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.

Kanda K, Nozu K, Yokoyama N, Morioka I, Miwa A, Hashimura Y, Kaito H, Iijima K, Matsuo M.

BMC Nephrol. 2009 Nov 14;10:37. doi: 10.1186/1471-2369-10-37.

7.

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.

8.

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
9.

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.

10.

Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR.

J Clin Endocrinol Metab. 2006 Sep;91(9):3671-5. Epub 2006 Jun 6.

PMID:
16757525
11.

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
12.

[Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor].

Arai K, Shibasaki T.

Nihon Rinsho. 2002 Feb;60(2):361-6. Review. Japanese.

PMID:
11857927
13.

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.

PMID:
28348114
14.

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
15.
16.

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
17.

Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.

Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, Haws R, Metzger D, Botelho B, Karaviti L, Haqq AM, Corey H, Janssens S, Corvol P, Lifton RP.

J Am Soc Nephrol. 2006 May;17(5):1429-36. Epub 2006 Apr 12.

19.

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
20.

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL, Antonini SR.

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

PMID:
17546235

Supplemental Content

Support Center