Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Christopher J. Ward, Marie C. Hogan, Sandro Rossetti et al. · Nature Genetics · 2002 · 763 citations

Medicine, Genetics, Molecular Genetics +14

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen et al. · Kidney International · 2005 · 348 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Calcium Restores a Normal Proliferation Phenotype in Human Polycystic Kidney Disease Epithelial Cells

Tamio Yamaguchi, Scott J. Hempson, Gail A. Reif et al. · Journal of the American Society of Nephrology · 2005 · 274 citations

Life Sciences, Cell Biology, Molecular Biology +17

Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (<i>TCF2</i>) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

Christine Bellanné‐Chantelot, Séverine Clauin, Dominique Chauveau et al. · Diabetes · 2005 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

Klaus Zerres, Gabi M�cher, Jutta Becker et al. · American Journal of Medical Genetics · 1998 · 263 citations

Medicine, Genetics, Molecular Genetics +17