Nephronophthisis

door Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick
Gepubliceerd in 2008

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

door Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Gepubliceerd in J Am Med Inform Assoc (2017)

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

door Bouchireb, Karim, Boyer, Olivia, Mansour-Hendili, Lamisse, Garnier, Arnaud, Heidet, Laurence, Niaudet, Patrick, Salomon, Remi, Poussou, Rosa Vargas
Gepubliceerd in 2014

Diagnosis support systems for rare diseases: a scoping review

door Faviez, Carole, Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Knebelmann, Bertrand, Salomon, Rémi, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita
Gepubliceerd in Orphanet J Rare Dis (2020)

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

door Delous, Marion, Hellman, Nathan E., Gaudé, Helori-Maël, Silbermann, Flora, Le Bivic, André, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie
Gepubliceerd in 2009

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

door Hogan, Julien, Audry, Benoit, Harambat, Jérôme, Dunand, Olivier, Garnier, Arnaud, Salomon, Rémi, Ulinski, Tim, Macher, Marie-Alice, Couchoud, Cécile
Gepubliceerd in Nephrol Dial Transplant (2015)

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

door Cambier, Alexandra, Rabant, Marion, Peuchmaur, Michel, Hertig, Alexandre, Deschenes, Georges, Couchoud, Cecile, Kolko, Anne, Salomon, Remi, Hogan, Julien, Robert, Thomas
Gepubliceerd in Kidney Int Rep (2018)

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

door Klifa, Roman, Toubiana, Julie, Michel, Alizée, Biebuyck, Nathalie, Charbit, Marina, Heidet, Laurence, Krid, Saoussen, Krug, Pauline, Salomon, Rémi, Boyer, Olivia
Gepubliceerd in BMC Nephrol (2019)

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

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

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

door Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien
Gepubliceerd in 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

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

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

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

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

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

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

door Mondin, Virginie E., Ben El Kadhi, Khaled, Cauvin, Clothilde, Jackson-Crawford, Anthony, Bélanger, Emilie, Decelle, Barbara, Salomon, Rémi, Lowe, Martin, Echard, Arnaud, Carréno, Sébastien
Gepubliceerd in J Cell Biol (2019)

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

door 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.
Gepubliceerd in 2000

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

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in Br J Clin Pharmacol (2014)

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

door 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
Gepubliceerd in BMC Nephrol (2019)

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

door 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
Gepubliceerd in Pan Afr Med J (2019)

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

door 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
Gepubliceerd in 2013