Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I

Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

Daniel Satran, Mary Ella Pierpont, William B. Dobyns · American Journal of Medical Genetics · 1999 · 144 citations

Medicine, Neuroscience, Pediatrics +15

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

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 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure

Friedhelm Hildebrandt, Brigitte Strahm, Hans Gerd Nothwang et al. · Kidney International · 1997 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

Regina C. Betz, Christopher Rensing, Edgar A. Otto et al. · PubMed · 2000 · 88 citations

Medicine, Genetics, Molecular Genetics +7