Miriam Zacchia

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson et al. · European Journal of Human Genetics · 2021 · 127 citations · Full text

Medicine, Genetics, Nephrology +17

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Gabriella Esposito, Francesco Testa, Miriam Zacchia et al. · BMC Medical Genetics · 2017 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Upregulation of apical sodium-chloride cotransporter and basolateral chloride channels is responsible for the maintenance of salt-sensitive hypertension

Giovambattista Capasso, Maria Rosaria Rizzo, Maria Lisa Garavaglia et al. · American Journal of Physiology-Renal Physiology · 2008 · 51 citations

Medicine, Nephrology, Physiology +17

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation

F Prosperi, Yoko Suzumoto, Pierluigi Marzuillo et al. · Scientific Reports · 2020 · 45 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +14

Low urinary citrate: an overview

Miriam Zacchia, Patricia A. Preisig · Journal of Nephrology · 2010 · 44 citations

Medicine, Internal Medicine, Nephrology +3