Nephronophthisis

Yazar: Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick
Baskı/Yayın Bilgisi 2008

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

Yazar: Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Yayımlandı J Am Med Inform Assoc (2017)

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

Yazar: Bouchireb, Karim, Boyer, Olivia, Mansour-Hendili, Lamisse, Garnier, Arnaud, Heidet, Laurence, Niaudet, Patrick, Salomon, Remi, Poussou, Rosa Vargas
Baskı/Yayın Bilgisi 2014

Diagnosis support systems for rare diseases: a scoping review

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

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

Yazar: Delous, Marion, Hellman, Nathan E., Gaudé, Helori-Maël, Silbermann, Flora, Le Bivic, André, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie
Baskı/Yayın Bilgisi 2009

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

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

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

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

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

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

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

Yazar: Besancon, Alix, Gitiaux, Cyril, Brochard, Karine, Brousse, Nicole, Quartier, Pierre, Goulet, Olivier, Salomon, Remi, Dupic, Laurent, Bodemer, Christine, Bader-Meunier, Brigitte
Baskı/Yayın Bilgisi 2014

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

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

Yazar: Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda
Baskı/Yayın Bilgisi 2000

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

Yazar: Servais, Aude, Frémeaux‐Bacchi, Véronique, Lequintrec, Moglie, Salomon, Rémi, Blouin, Jacques, Knebelmann, Bertrand, Grünfeld, Jean‐Pierre, Lesavre, Philippe, Noël, Laure‐Hélène, Fakhouri, Fadi
Baskı/Yayın Bilgisi 2007

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

Yazar: Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi
Baskı/Yayın Bilgisi 2010

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

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

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

Yazar: 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.
Baskı/Yayın Bilgisi 2000

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

Yazar: 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
Baskı/Yayın Bilgisi 2012

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

Yazar: 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
Yayımlandı Br J Clin Pharmacol (2014)

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

Yazar: 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
Yayımlandı BMC Nephrol (2019)

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

Yazar: 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
Yayımlandı Pan Afr Med J (2019)

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

Yazar: 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
Baskı/Yayın Bilgisi 2013