Nephronophthisis

ανά Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick
Έκδοση 2008

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

ανά Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Τόπος έκδοσης J Am Med Inform Assoc (2017)

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

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

Diagnosis support systems for rare diseases: a scoping review

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ανά 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.
Έκδοση 2000

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

ανά 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
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης Br J Clin Pharmacol (2014)

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

ανά 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
Τόπος έκδοσης BMC Nephrol (2019)

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

ανά 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
Τόπος έκδοσης Pan Afr Med J (2019)

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

ανά 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
Έκδοση 2013