Nephronophthisis

Tekijä Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick
Julkaistu 2008

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

Tekijä Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Julkaisussa J Am Med Inform Assoc (2017)

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

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

Diagnosis support systems for rare diseases: a scoping review

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Tekijä 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.
Julkaistu 2000

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

Tekijä 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
Julkaistu 2012

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

Tekijä 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
Julkaisussa Br J Clin Pharmacol (2014)

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

Tekijä 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
Julkaisussa BMC Nephrol (2019)

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

Tekijä 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
Julkaisussa Pan Afr Med J (2019)

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

Tekijä 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
Julkaistu 2013