240 related articles for article (PubMed ID: 17546235)
1. [Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL; Antonini SR
Arq Bras Endocrinol Metabol; 2007 Apr; 51(3):373-81. PubMed ID: 17546235
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11134129
[TBL] [Abstract][Full Text] [Related]
3. Pseudohypoaldosteronism.
Riepe FG
Endocr Dev; 2013; 24():86-95. PubMed ID: 23392097
[TBL] [Abstract][Full Text] [Related]
4. Mineralocorticoid resistance.
Zennaro MC; Lombès M
Trends Endocrinol Metab; 2004 Aug; 15(6):264-70. PubMed ID: 15358279
[TBL] [Abstract][Full Text] [Related]
5. 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; 217(1-2):119-25. PubMed ID: 15134810
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16757525
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19344080
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23197115
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 15126534
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 9662404
[TBL] [Abstract][Full Text] [Related]
11. 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; 47(1):138. PubMed ID: 34134742
[TBL] [Abstract][Full Text] [Related]
12. 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC; Fernandes-Rosa F
J Endocrinol; 2017 Jul; 234(1):T93-T106. PubMed ID: 28348114
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular features of type 1 pseudohypoaldosteronism.
Riepe FG
Horm Res; 2009; 72(1):1-9. PubMed ID: 19571553
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 21653223
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21903996
[TBL] [Abstract][Full Text] [Related]
16. 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; 32(9):959-967. PubMed ID: 31301676
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21503203
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 16954160
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16972228
[TBL] [Abstract][Full Text] [Related]
20. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
Viemann M; Peter M; López-Siguero JP; Simic-Schleicher G; Sippell WG
J Clin Endocrinol Metab; 2001 May; 86(5):2056-9. PubMed ID: 11344206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]