Stephanie M. Karle

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Rainer Ruf, Anne Lichtenberger, Stephanie M. Karle et al. · Journal of the American Society of Nephrology · 2004 · 413 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +17

Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome

Stephanie M. Karle, Barbara Uetz, Vera Ronner et al. · Journal of the American Society of Nephrology · 2002 · 246 citations · Full text

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

Rainer Ruf, Michael Schultheiß, Anne Lichtenberger et al. · Kidney International · 2004 · 130 citations · Full text

Urology, Genetic Disorder, Medicine +12

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

Matthias T. F. Wolf, Bettina E. Mucha, Massimo Attanasio et al. · Kidney International · 2003 · 98 citations · Full text

Mendelian Disorder, Genetic Disorder, Receptor Tyrosine Kinase +8

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Boris Utsch, Arend Bökenkamp, Marcus R. Benz et al. · American Journal of Kidney Diseases · 2006 · 84 citations

Dent Disease, Oral Cavity, Oral Biology +5