Joaquim Calado

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

Sophie Saunier, Joaquim Calado, France Benessy et al. · The American Journal of Human Genetics · 2000 · 132 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +7

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion

Joaquim Calado, Yves Sznajer, Daniel L. Metzger et al. · Nephrology Dialysis Transplantation · 2008 · 107 citations · Full text

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Michael J. Coady, Abdulah El Tarazi, René Santer et al. · Journal of the American Society of Nephrology · 2016 · 101 citations · Full text

Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting

Joaquim Calado, Judith Loeffler, Faysal Gök et al. · Kidney International · 2006 · 100 citations · Full text

Slc5a2 Mutation Analysis, Urology, Renal Function +10

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

Joaquim Calado, Karina Soto, Carla Clemente et al. · Human Genetics · 2004 · 75 citations

Urology, Genetics, Renal Pathology +6