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Journal of Molecular Medicine (Berlin, Germany)|May 20, 1998
Familial juvenile nephronophthisisM Konrad, S Saunier, J Calado, et al.American Journal of Human Genetics|March 11, 2000
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisisS Saunier, J Calado, F Benessy, et al.The American Journal of Physiology|January 1, 1988
Distinct activation of Na+-H+ exchange by gastrin and CCK peptide in acini from guinea pigM J Bastie, M Delvaux, M Dufresne, et al.Genomics|December 10, 1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2qM Konrad, S Saunier, F Silbermann, et al.Human Molecular Genetics|March 1, 1996
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisM Konrad, S Saunier, L Heidet, et al.Human Molecular Genetics|March 21, 1998
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisisS Saunier, J Calado, R Heilig, et al.Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.Pageof 1