Renal and Retinal Effects of Enalapril and Losartan in Type 1 Diabetes
Mauer, Michael, Zinman, Bernard, Gardiner, Robert, Suissa, Samy, Sinaiko, Alan, Strand, Trudy, Drummond, Keith, Donnelly, Sandra, Goodyer, Paul, Gubler, Marie Claire, Klein, Ronald
Published in The New England journal of medicine (02.07.2009)
Published in The New England journal of medicine (02.07.2009)
Get full text
Journal Article
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Boute, Nicolas, Antignac, Corinne, Gribouval, Olivier, Lee, Hyunjoo, Niaudet, Patrick, Roselli, Séverine, Dahan, Karin, Fuchshuber, Arno, Gubler, Marie-Claire, Benessy, France
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
Get full text
Journal Article
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
Bouton, Jean Marie, Neuhaus, Thomas, Aziza, Jacqueline, Makni, Saloua, Delezoide, Anne-Lise, Dijoud, Frédérique, Antignac, Corinne, Bouvier, Raymonde, Joubert, Madeleine, Roume, Joelle, Laube, Guido, Laurent, Nicole, Amar, Hatem Ben, Bieth, Eric, Gribouval, Olivier, Gubler, Marie Claire, Feuillet, François, Ollagnon-Roman, Elisabeth, Gonzales, Marie
Published in Nature genetics (01.09.2005)
Published in Nature genetics (01.09.2005)
Get full text
Journal Article
Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation
Hammes, Annette, Guo, Jian-Kan, Lutsch, Gudrun, Leheste, Joerg-Robert, Landrock, Danilo, Ziegler, Ulrike, Gubler, Marie-Claire, Schedl, Andreas
Published in Cell (10.08.2001)
Published in Cell (10.08.2001)
Get full text
Journal Article
X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A European Community Alport Syndrome Concerted Action Study
JAIS, Jean Philippe, KNEBELMANN, Bertrand, PIRSON, Yves, DAHAN, Karin, WIESLANDER, Jorgen, PERSSON, Ulf, TRYGGVASON, Karl, MARTIN, Paula, HERTZ, Jens Michael, SCHRÖDER, Cornelis, SANAK, Marek, CARVALHO, Maria Fernanda, GIATRAS, Iannis, SAUS, Juan, ANTIGNAC, Corinne, SMEETS, Hubert, GUBLER, Marie Claire, DE MARCHI, Mario, RIZZONI, Gianfranco, RENIERI, Alessandra, WEBER, Manfred, GROSS, Oliver, NETZER, Kai-Olaf, FLINTER, Frances
Published in Journal of the American Society of Nephrology (01.10.2003)
Published in Journal of the American Society of Nephrology (01.10.2003)
Get full text
Journal Article
WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis
Guo, Jian-Kan, Menke, Aswin L., Gubler, Marie-Claire, Clarke, Alan R., Harrison, David, Hammes, Annette, Hastie, Nicholas D., Schedl, Andreas
Published in Human molecular genetics (15.03.2002)
Published in Human molecular genetics (15.03.2002)
Get full text
Journal Article
X-linked Alport syndrome : Natural history in 195 families and genotype- phenotype correlations in males
JAIS, J. P, KNEBELMANN, B, PIRSON, Y, VERELLEN, C, WIESLANDER, J, PERSSON, U, TRYGGVASON, K, MARTIN, P, HERTZ, J. M, SCHRÖDER, C, SANAK, M, KREJCOVA, S, GIATRAS, I, CARVALHO, M. F, SAUS, J, ANTIGNAC, C, SMEETS, H, GUBLER, M. C, DE MARCHI, M, RIZZONI, G, RENIERI, A, WEBER, M, GROSS, O, NETZER, K.-O, FLINTER, F
Published in Journal of the American Society of Nephrology (01.04.2000)
Published in Journal of the American Society of Nephrology (01.04.2000)
Get full text
Journal Article
Paradoxic activation of the renin-angiotensin system in twin-twin transfusion syndrome : An explanation for cardiovascular disturbances in the recipient
MAHIEU-CAPUTO, Dominique, MEULEMANS, Alain, MARTINOVIC, Jelena, GUBLER, Marie-Claire, DELEZOIDE, Anne-Lise, MULLER, Francoise, MADELENAT, Patrick, FISK, Nicholas M, DOMMERGUES, Marc
Published in Pediatric research (01.10.2005)
Published in Pediatric research (01.10.2005)
Get full text
Journal Article
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes
ARRONDEL, Christelle, VODOVAR, Nicolas, KNEBELMANN, Bertrand, GRÜNFELD, Jean-Pierre, GUBLER, Marie-Claire, ANTIGNAC, Corinne, HEIDET, Laurence
Published in Journal of the American Society of Nephrology (2002)
Published in Journal of the American Society of Nephrology (2002)
Get full text
Journal Article
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
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
Published in Nature genetics (01.12.1997)
Published in Nature genetics (01.12.1997)
Get full text
Journal Article
Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis
Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
Published in Molecular and Cellular Biology (01.11.2002)
Published in Molecular and Cellular Biology (01.11.2002)
Get full text
Journal Article
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome
Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
Get full text
Journal Article
Nail-patella syndrome. Overview on clinical and molecular findings
Bongers, Ernie M H F, Gubler, Marie-Claire, Knoers, Nine V A M
Published in Pediatric nephrology (Berlin, West) (01.09.2002)
Published in Pediatric nephrology (Berlin, West) (01.09.2002)
Get full text
Journal Article
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
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
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
Get full text
Journal Article
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
Heidet, Laurence, Arrondel, Christelle, Forestier, Lionel, Cohen-Solal, Lola, Mollet, Geraldine, Gutierrez, Bruno, Stavrou, Christophoros, Gubler, Marie Claire, Antignac, Corinne
Published in Journal of the American Society of Nephrology (01.01.2001)
Published in Journal of the American Society of Nephrology (01.01.2001)
Get full text
Journal Article
Stem cell therapy for Alport syndrome: the hope beyond the hype
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.
Published in Nephrology, dialysis, transplantation (01.03.2009)
Published in Nephrology, dialysis, transplantation (01.03.2009)
Get full text
Journal Article
Fetal toxic effects and angiotensin-II-receptor antagonists
Martinovic, Jelena, Benachi, Alexandra, Laurent, Nicole, Daïkha-Dahmane, Farida, Gubler, Marie Claire
Published in The Lancet (British edition) (21.07.2001)
Published in The Lancet (British edition) (21.07.2001)
Get full text
Journal Article