Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.
Nakata Y et al.
Journal of Clinical Medicine, 2025
40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_2__MR_group_.xlsx › MR_group_n_88_
Aldosterone signaling defect in young infants: single-center report and review.
Wijaya M et al.
Bmc Endocrine Disorders, 2021
The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.
De Mattos-Arruda L et al.
Npj Breast Cancer, 2021
34099718 (PubMed )
Supplement: 41523_2021_282_MOESM1_ESM.xlsx › Suppl_Table_1
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC et al.
The Journal of Endocrinology, 2017
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.
Nishizaki Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016
Molecular pathogenesis of renal pseudohypoaldosteronism type 1.
Riepe FG
Expert Review of Endocrinology & Metabolism, 2007
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
Pujo L et al.
Human Mutation, 2007
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
Geller DS et al.
Journal of the American Society of Nephrology : Jasn, 2006
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