Gilda Stringini

<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini et al. · Human Mutation · 2008 · 105 citations · Full text

Joubert Syndrome, Liver Involvement, Genetics +17

Calcium-Sensing Receptor and Aquaporin 2 Interplay in Hypercalciuria-Associated Renal Concentrating Defect in Humans. An In Vivo and In Vitro Study

Giuseppe Procino, Lisa Mastrofrancesco, Grazia Tamma et al. · PLoS ONE · 2012 · 64 citations · Full text

Growth hormone treatment started in the first year of life in infants with chronic renal failure

Francesca Mencarelli, Daniela Kiepe, Giovanna Leozappa et al. · Pediatric Nephrology · 2009 · 43 citations

First Year, Urology, Growth Hormone +13

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Enrica Tosetto, Maria Addis, Gianluca Caridi et al. · Pediatric Nephrology · 2009 · 33 citations

Oral Cavity, Genetics, Pathogenesis +7

Serum Creatinine Levels Are Significantly Influenced by Renal Size in the Normal Pediatric Population

Giacomo Di Zazzo, Gilda Stringini, Maria Chiara Matteucci et al. · Clinical Journal of the American Society of Nephrology · 2010 · 30 citations · Full text