Late-onset renal failure in Senior-Loken syndrome

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Friedhelm Hildebrandt, Edgar A. Otto, Hans Gerd Nothwang et al. · Nature Genetics · 1997 · 352 citations

Life Sciences, Genetics, Nephrology +6

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

John D. Harnett, Jane S. Green, B. Cramer et al. · New England Journal of Medicine · 1988 · 163 citations

Medicine, Nephrology, Ophthalmology +10

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

Martin Konrad · Human Molecular Genetics · 1996 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

Kyproula Christodoulou · Human Molecular Genetics · 1998 · 131 citations

Medicine, Genetics, Molecular Genetics +17

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

Corinne Antignac, Christine H. Arduy, J. Beckmann et al. · Nature Genetics · 1993 · 126 citations

Medicine, Genetics, Molecular Genetics +11