Associated Papers
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
Bircan Z et al.
Pediatric Nephrology (berlin, Germany), 2009
Type IV Bartter syndrome: report of two new cases.
Zaffanello M et al.
Pediatric Nephrology (berlin, Germany), 2006
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