Nephronophthisis

Por Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick
Publicado em 2008

Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse

Por Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Publicado no J Am Med Inform Assoc (2017)

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome

Por Bouchireb, Karim, Boyer, Olivia, Mansour-Hendili, Lamisse, Garnier, Arnaud, Heidet, Laurence, Niaudet, Patrick, Salomon, Remi, Poussou, Rosa Vargas
Publicado em 2014

Diagnosis support systems for rare diseases: a scoping review

Por Faviez, Carole, Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Knebelmann, Bertrand, Salomon, Rémi, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita
Publicado no Orphanet J Rare Dis (2020)

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

Por Delous, Marion, Hellman, Nathan E., Gaudé, Helori-Maël, Silbermann, Flora, Le Bivic, André, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie
Publicado em 2009

Are there good reasons for inequalities in access to renal transplantation in children?

Por Hogan, Julien, Audry, Benoit, Harambat, Jérôme, Dunand, Olivier, Garnier, Arnaud, Salomon, Rémi, Ulinski, Tim, Macher, Marie-Alice, Couchoud, Cécile
Publicado no Nephrol Dial Transplant (2015)

Immunosuppressive Treatment in Children With IgA Nephropathy and the Clinical Value of Podocytopathic Features

Por Cambier, Alexandra, Rabant, Marion, Peuchmaur, Michel, Hertig, Alexandre, Deschenes, Georges, Couchoud, Cecile, Kolko, Anne, Salomon, Remi, Hogan, Julien, Robert, Thomas
Publicado no Kidney Int Rep (2018)

Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices

Por Klifa, Roman, Toubiana, Julie, Michel, Alizée, Biebuyck, Nathalie, Charbit, Marina, Heidet, Laurence, Krid, Saoussen, Krug, Pauline, Salomon, Rémi, Boyer, Olivia
Publicado no BMC Nephrol (2019)

Clinical characteristics, management and outcomes in patients with juvenile dermatomyositis requiring admission in pediatric intensive care unit

Por Besancon, Alix, Gitiaux, Cyril, Brochard, Karine, Brousse, Nicole, Quartier, Pierre, Goulet, Olivier, Salomon, Remi, Dupic, Laurent, Bodemer, Christine, Bader-Meunier, Brigitte
Publicado em 2014

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Por Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien
Publicado no Orphanet J Rare Dis (2018)

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Por Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda
Publicado em 2000

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

Por Servais, Aude, Frémeaux‐Bacchi, Véronique, Lequintrec, Moglie, Salomon, Rémi, Blouin, Jacques, Knebelmann, Bertrand, Grünfeld, Jean‐Pierre, Lesavre, Philippe, Noël, Laure‐Hélène, Fakhouri, Fadi
Publicado em 2007

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Por Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi
Publicado em 2010

PTEN reduces endosomal PtdIns(4,5)P(2) in a phosphatase-independent manner via a PLC pathway

Por Mondin, Virginie E., Ben El Kadhi, Khaled, Cauvin, Clothilde, Jackson-Crawford, Anthony, Bélanger, Emilie, Decelle, Barbara, Salomon, Rémi, Lowe, Martin, Echard, Arnaud, Carréno, Sébastien
Publicado no J Cell Biol (2019)

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Por Raas-Rothschild, Annick, Cormier-Daire, Valerie, Bao, Ming, Genin, Emmanuelle, Salomon, Remi, Brewer, Kevin, Zeigler, Marsha, Mandel, Hanna, Toth, Steve, Roe, Bruce, Munnich, Arnold, Canfield, William M.
Publicado em 2000

Fgf9 and FGF20 maintain the stemness of nephron progenitors in mice and man

Por Barak, Hila, Huh, Sung-Ho, Chen, Shuang, Jeanpierre, Cécile, Martinovic, Jelena, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Salomon, Rémi, Antignac, Corinne, Ornitz, David M., Kopan, Raphael
Publicado em 2012

Pharmacokinetics of mycophenolate mofetil in children with lupus and clinical findings in favour of therapeutic drug monitoring

Por Woillard, Jean-Baptiste, Bader-Meunier, Brigitte, Salomon, Rémi, Ranchin, Bruno, Decramer, Stéphane, Fischbach, Michel, Berard, Etienne, Guigonis, Vincent, Harambat, Jérôme, Dunand, Olivier, Tenenbaum, Julie, Marquet, Pierre, Saint-Marcoux, Franck
Publicado no Br J Clin Pharmacol (2014)

Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment

Por Clavé, Stéphanie, Tsimaratos, Michel, Boucekine, Mohamed, Ranchin, Bruno, Salomon, Rémi, Dunand, Olivier, Garnier, Arnaud, Lahoche, Annie, Fila, Marc, Roussey, Gwenaelle, Broux, Francoise, Harambat, Jérome, Cloarec, Sylvie, Menouer, Soraya, Deschenes, Georges, Vrillon, Isabelle, Auquier, Pascal, Berbis, Julie
Publicado no BMC Nephrol (2019)

Continuous ambulatory peritoneal dialysis (CAPD) in children: a successful case for a bright future in a developing country

Por Keita, Younoussa, Ndongo, Aliou Abdoulaye, Engome, Cathérine Bebey, Sow, Ndeye Fatou, Seck, Ndiogou, Thiam, Lamine, Diouf, Papa Malick, Lemrabott, Ahmed Tall, Basse, Idrissa, Niang, Abdou, Krid, Saoussen, Moreira, Claude, Salomon, Remi, Diouf, Boucar, Sylla, Assane, Ndiaye, Ousmane
Publicado no Pan Afr Med J (2019)

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Por Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Publicado em 2013