Marie-Claire Gübler

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nicolas Boute, Olivier Gribouval, Séverine Roselli et al. · Nature Genetics · 2000 · 1.4K citations

Glomerulonephritis, Urology, Renal Function +9

Renal and Retinal Effects of Enalapril and Losartan in Type 1 Diabetes

Michael Mauer, Bernard Zinman, Robert Gardiner et al. · New England Journal of Medicine · 2009 · 783 citations · Full text

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Sandrine Barbaux, Patrick Niaudet, Marie-Claire Gübler et al. · Nature Genetics · 1997 · 742 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 574 citations

Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

Annette Hammes, Jian-Kan Guo, Gudrun Lutsch et al. · Cell · 2001 · 531 citations · Full text

Developmental Biology, Germ Cell, Sex Determination +9