Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment von Vinit, N., Bessières, B., Spaggiari, E., Heidet, L., Gubler, M.‐C., Dreux, S., Attie‐Bitach, T., Blanc, T., Ville, Y., Stirnemann, Julien J., Salomon, Laurent J., Loeuillet, Laurence, Bonnière, Maryse, Salhi, Houria, Roux, Nathalie, Petrilli, Giulia, Guimiot, Fabien, Khung‐Savatovsky, Suonavy, Rosenblatt, Jonathan, Quibel, Thibaud, Leroy, Brigitte, Tsatsaris, Vassilis, Anselem, Olivia, Grange, Gilles, Levaillant, Jean‐Marc, Talhi, Naima

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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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Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation von Hammes, Annette, Guo, Jian-Kan, Lutsch, Gudrun, Leheste, Joerg-Robert, Landrock, Danilo, Ziegler, Ulrike, Gubler, Marie-Claire, Schedl, Andreas

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A missense mutation in podocin leads to early and severe renal disease in mice von Philippe, A., Weber, S., Esquivel, E.L., Houbron, C., Hamard, G., Ratelade, J., Kriz, W., Schaefer, F., Gubler, M.-C., Antignac, C.

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts von Sharp, A M, Messiaen, L M, Page, G, Antignac, C, Gubler, M-C, Onuchic, L F, Somlo, S, Germino, G G, Guay-Woodford, L M

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Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Muta... von Jeanpierre, C., Denamur, E., Henry, I., Cabanis, M.-O., Luce, S., Cécille, A., Elion, J., Peuchmaur, M., Loirat, C., Niaudet, P., Gubler, M.-C., Junien, C.

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome von Thibaud, Elisabeth, Barbaux, Sandrine, Grünfeld, Jean-Pierre, Gubler, Marie-Claire, Kuttenn, Frédérique, Fellous, Marc, Niaudet, Patrick, Fékété, Claire Nihoul, Souleyreau-Therville, Nicole, McElreavey, Ken, Jaubert, Francis

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Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome? von Tsatsaris, V., Gagnadoux, M.F., Aubry, M.C., Gubler, M.C., Dumez, Y., Dommergues, M.

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Meckel–Grüber syndrome: sonography and pathology von Ickowicz, V., Eurin, D., Maugey‐Laulom, B., Didier, F., Garel, C., Gubler, M. C., Laquerrière, A., Avni, E. F.

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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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Stem cell therapy for Alport syndrome: the hope beyond the hype von Gross, Oliver, Borza, Dorin-Bogdan, Anders, Hans-Joachim, Licht, Christoph, Weber, Manfred, Segerer, Stephan, Torra, Roser, Gubler, Marie-Claire, Heidet, Laurence, Harvey, Scott, Cosgrove, Dominic, Lees, George, Kashtan, Clifford, Gregory, Martin, Savige, Judy, Ding, Jie, Thorner, Paul, Abrahamson, Dale R., Antignac, Corinne, Tryggvason, Karl, Hudson, Billy, Miner, Jeffrey H.

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Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System von Mahieu-Caputo, Dominique, Dommergues, Marc, Delezoide, Anne-Lise, Lacoste, Mireille, Cai, Yi, Narcy, Francoise, Jolly, Dominique, Gonzales, Marie, Dumez, Yves, Gubler, Marie-Claire

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Renal phenotype of the cystinosis mouse model is dependent upon genetic background von Nevo, Nathalie, Chol, Marie, Bailleux, Anne, Kalatzis, Vasiliki, Morisset, Ludivine, Devuyst, Olivier, Gubler, Marie-Claire, Antignac, Corinne

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Very Early Twin-to-Twin Transfusion Syndrome and Discordant Activation of the Renin–Angiotensin System von Guilherme, R, Patrier, S, Gubler, M.C, Lemercier, D, Guimiot, F, Dommergues, M

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Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis von Fuchshuber, Arno, Jean, Genevievè, Gribouval, Olivler, Gubler, Marie-Claire, Broyer, Michel, Beckmann, Jacques S., Niaudet, Patrick, Antignac, Corinne

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Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histol... von Canaud, Guillaume, Dion, Daniel, Zuber, Julien, Gubler, Marie-Claire, Sberro, Rebecca, Thervet, Eric, Snanoudj, Renaud, Charbit, Marina, Salomon, Rémi, Martinez, Frank, Legendre, Christophe, Noel, Laure-Helene, Niaudet, Patrick

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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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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome von Boyer, Olivia, Benoit, Geneviève, Gribouval, Olivier, Nevo, Fabien, Pawtowski, Audrey, Bilge, Ilmay, Bircan, Zelal, Deschênes, Georges, Guay-Woodford, Lisa M, Hall, Michelle, Macher, Marie-Alice, Soulami, Kenza, Stefanidis, Constantinos J, Weiss, Robert, Loirat, Chantal, Gubler, Marie-Claire, Antignac, Corinne

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PAX2 mutations in oligomeganephronia von Salomon, Rémi, Tellier, Anne-Lorraine, Attie-Bitach, Tania, Amiel, Jeanne, Vekemans, Michel, Lyonnet, Stanislas, Dureau, Pascal, Niaudet, Patrick, Gubler, Marie-Claire, Broyer, Michel

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Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome von Boye, Eileen, Mollet, Géraldine, Forestier, Lionel, Cohen-Solal, Lola, Heidet, Laurence, Cochat, Pierre, Grünfeld, Jean-Pierre, Palcoux, Jean-Bernard, Gubler, Marie-Claire, Antignac, Corinne

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