NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome von Boute, Nicolas, Antignac, Corinne, Gribouval, Olivier, Lee, Hyunjoo, Niaudet, Patrick, Roselli, Séverine, Dahan, Karin, Fuchshuber, Arno, Gubler, Marie-Claire, Benessy, France

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Podocin Localizes in the Kidney to the Slit Diaphragm Area von Roselli, Séverine, Gribouval, Olivier, Boute, Nicolas, Sich, Mireille, Benessy, France, Attié, Tania, Gubler, Marie-Claire, Antignac, Corinne

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Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis von Saunier, Sophie, Calado, Joaquim, Benessy, France, Silbermann, Flora, Heilig, Roland, Weissenbach, Jean, Antignac, Corinne

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A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis von Saunier, Sophie, Calado, Joaquim, Heilig, Roland, Silbermann, Flora, Benessy, France, Morin, Gilles, Konrad, Martin, Broyer, Michel, Gubler, Marie-Claire, Weissenbach, Jean, Antignac, Corinne

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Refined Mapping of a Gene (NPH1) Causing Familial Juvenile Nephronophthisis and Evidence for Genetic Heterogeneity von Medhioub, M., Cherif, D., Benessy, F., Silbermann, F., Gubler, M.C., Le Paslier, D., Cohen, O., Weissenbach, J., Beckmann, J., Antignac, C.

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Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis von Konrad, Martin, Saunier, Sophie, Heidet, Laurence, Silbermann, Flora, Benessy, France, Calado, Joaquim, Le Paslier, Denis, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne

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Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome von Knebelmann, Bertrand, Forestier, Lionel, Drouot, Laurent, Quinones, Susan, Chuet, Christian, Benessy, France, Saus, Juan, Antignac, Corinne

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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p von Antignac, Corinne, Arduy, Christine H., Beckmann, Jacques S., Benessy, France, Gros, Françoise, Medhioub, Monia, Hildebrandt, Friedhelm, Dufier, Jean-Louis, Kleinknecht, Claire, Broyer, Michel, Weissenbach, Jean, Habib, Renée, Cohen, Daniel

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A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q von Konrad, M, Saunier, S, Silbermann, F, Benessy, F, Le Paslier, D, Weissenbach, J, Broyer, M, Gubler, M C, Antignac, C

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A 11 Mb YAC-based contig spanning the familial juvenile nephronophtisis region (NPH1) located on chromosome 2q von KONRAD, M, SAUNIER, S, SILBERMANN, F, BENESSY, F, LE PASLIER, D, WEISSENBACH, J, BROYER, M, GUBLER, M.-C, ANTIGNAC, C

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