Search Results - "Rémi Salomon"

A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse by Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Faour, Hassan, Benoit, Vincent, Delapalme, Arthur, Munnich, Arnold, Burgun, Anita, Rance, Bastien

“…[Display omitted] •Narrative reports contain crucial and detailed knowledge.•A document oriented data warehouse preserves the context of the data.•Dedicated…”
Get full text

Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes by Cauvin, Clothilde, Rosendale, Morgane, Gupta-Rossi, Neetu, Rocancourt, Murielle, Larraufie, Pierre, Salomon, Rémi, Perrais, David, Echard, Arnaud

“…Phosphoinositide (PtdIns) homeostasis requires a tight spatial and temporal regulation during the endocytic process [1]. Indeed, PtdIns(4,5)P2 plays a crucial…”
Get full text

Nephronophthisis by Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick

“…Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during…”
Get full text

Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse by Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita

“…Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in…”
Get full text

Treatment and outcome of congenital nephrotic syndrome by Bérody, Sandra, Heidet, Laurence, Gribouval, Olivier, Harambat, Jérome, Niaudet, Patrick, Baudouin, Veronique, Bacchetta, Justine, Boudaillez, Bernard, Dehennault, Maud, de Parscau, Loïc, Dunand, Olivier, Flodrops, Hugues, Fila, Marc, Garnier, Arnaud, Louillet, Ferielle, Macher, Marie-Alice, May, Adrien, Merieau, Elodie, Monceaux, Françoise, Pietrement, Christine, Rousset-Rouvière, Caroline, Roussey, Gwenaëlle, Taque, Sophie, Tenenbaum, Julie, Ulinski, Tim, Vieux, Rachel, Zaloszyc, Ariane, Morinière, Vincent, Salomon, Rémi, Boyer, Olivia

“…Abstract Background Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions,…”
Get full text

Treatment by immunoadsorption for recurrent focal segmental glomerulosclerosis after paediatric kidney transplantation: a multicentre French cohort by Allard, Lise, Kwon, Theresa, Krid, Saoussen, Bacchetta, Justine, Garnier, Arnaud, Novo, Robert, Deschenes, Georges, Salomon, Rémi, Roussey, Gwenaëlle, Allain-Launay, Emma

“…Primary focal segmental glomerulosclerosis (FSGS) frequently recurs after kidney transplantation (KTx) in children. This can lead to delayed graft loss. As the…”
Get full text

To biopsy or not to biopsy: Henoch-Schönlein nephritis in children, a 5-year follow-up study by Avramescu, Marina, Lahoche, Annie, Hogan, Julien, Salomon, Rémi, Roussey, Gwenaëlle, Bacchetta, Justine, Decramer, Stéphane, Ulinski, Tim, Barbe, Coralie, Pietrement, Christine

“…Background The prognosis of Henoch-Schönlein purpura (HSP), IgA vasculitis, depends on kidney involvement. There is no consensus on the initiation of treatment…”
Get full text

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome by Lopez-Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E, Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D’Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nicholas, Sanna-Cherchi, Simone

“…A third of patients with the DiGeorge syndrome have congenital kidney and urinary tract anomalies. This study provides evidence that haploinsufficiency of CRKL…”
Get full text

Clinical outcomes in children with Henoch–Schönlein purpura nephritis without crescents by Delbet, Jean Daniel, Hogan, Julien, Aoun, Bilal, Stoica, Iulia, Salomon, Rémi, Decramer, Stéphane, Brocheriou, Isabelle, Deschênes, Georges, Ulinski, Tim

“…Background Henoch–Schönlein purpura is the most common vasculitis in children. Its long-term prognosis depends on renal involvement. The management of…”
Get full text

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease by Dorval, Guillaume, Boyer, Olivia, Couderc, Anne, Delbet, Jean-Daniel, Heidet, Laurence, Debray, Dominique, Krug, Pauline, Girard, Muriel, Llanas, Brigitte, Charbit, Marina, Krid, Saoussen, Biebuyck, Nathalie, Fila, Marc, Courivaud, Cécile, Tilley, Frances, Garcelon, Nicolas, Blanc, Thomas, Chardot, Christophe, Salomon, Rémi, Lacaille, Florence

“…Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease…”
Get full text

The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases by Iorio, Pauline, Heidet, Laurence, Rutten, Caroline, Garcelon, Nicolas, Audrézet, Marie-Pierre, Morinière, Vincent, Boddaert, Nathalie, Salomon, Rémi, Berteloot, Laureline

“…Background While typical ultrasound patterns of ciliopathy-related cystic kidney diseases have been described in children, ultrasound findings can overlap…”
Get full text

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database by Bower, Matthew, Salomon, Rémi, Allanson, Judith, Antignac, Corinne, Benedicenti, Francesco, Benetti, Elisa, Binenbaum, Gil, Jensen, Uffe B., Cochat, Pierre, DeCramer, Stephane, Dixon, Joanne, Drouin, Regen, Falk, Marni J., Feret, Holly, Gise, Robert, Hunter, Alasdair, Johnson, Kisha, Kumar, Rajiv, Lavocat, Marie Pierre, Martin, Laura, Morinière, Vincent, Mowat, David, Murer, Luisa, Nguyen, Hiep T., Peretz-Amit, Gabriela, Pierce, Eric, Place, Emily, Rodig, Nancy, Salerno, Ann, Sastry, Sujatha, Sato, Tadashi, Sayer, John A., Schaafsma, Gerard C.P., Shoemaker, Lawrence, Stockton, David W., Tan, Wen-Hann, Tenconi, Romano, Vanhille, Philippe, Vats, Abhay, Wang, Xinjing, Warman, Berta, Weleber, Richard G., White, Susan M., Wilson-Brackett, Carolyn, Zand, Dina J., Eccles, Michael, Schimmenti, Lisa A., Heidet, Laurence

“…Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐dominant disorder characterized by ocular and renal malformations. Mutations in…”
Get full text

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations by Hureaux, Marguerite, Molin, Arnaud, Jay, Nadine, Saliou, Anne Hélène, Spaggiari, Emmanuel, Salomon, Rémi, Benachi, Alexandra, Vargas-Poussou, Rosa, Heidet, Laurence

“…Background Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound…”
Get full text

Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome by Baala, Lekbir, Audollent, Sophie, Martinovic, Jéléna, Ozilou, Catherine, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Saunier, Sophie, Salomon, Rémi, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Toutain, Annick, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joëlle, Merrer, Martine Le, Meiner, Vardiella, Meir, Karen, Menez, Françoise, Beaufrère, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, Dumez, Yves, MacDonald, Fiona, Munnich, Arnold, Lyonnet, Stanislas, Gubler, Marie-Claire, Génin, Emmanuelle, Johnson, Colin A., Vekemans, Michel, Encha-Razavi, Férechté, Attié-Bitach, Tania

“…Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney…”
Get full text

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome by Dorval, Guillaume, Gribouval, Olivier, Martinez-Barquero, Vanesa, Machuca, Eduardo, Tête, Marie-Josèphe, Baudouin, Véronique, Benoit, Stéphane, Chabchoub, Imen, Champion, Gérard, Chauveau, Dominique, Chehade, Hassib, Chouchane, Chokri, Cloarec, Sylvie, Cochat, Pierre, Dahan, Karin, Dantal, Jacques, Delmas, Yahsou, Deschênes, Georges, Dolhem, Phillippe, Durand, Dominique, Ekinci, Zelal, El Karoui, Khalil, Fischbach, Michel, Grunfeld, Jean-Pierre, Guigonis, Vincent, Hachicha, Mongia, Hogan, Julien, Hourmant, Maryvonne, Hummel, Aurélie, Kamar, Nassim, Krummel, Thierry, Lacombe, Didier, Llanas, Brigitte, Mesnard, Laurent, Mohsin, Nabil, Niaudet, Patrick, Nivet, Hubert, Parvex, Paloma, Pietrement, Christine, de Pontual, Loic, Noble, Claire Pouteil, Ribes, David, Ronco, Pierre, Rondeau, Eric, Sallee, Marion, Tsimaratos, Michel, Ulinski, Tim, Salomon, Rémi, Antignac, Corinne, Boyer, Olivia

“…Background Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations…”
Get full text

Hydration measurement by bioimpedance spectroscopy and blood pressure management in children on hemodialysis by Zaloszyc, Ariane, Schaefer, Betti, Schaefer, Franz, Krid, Saoussen, Salomon, Rémi, Niaudet, Patrick, Schmitt, Claus Peter, Fischbach, Michel

“…Background Hypertension is frequent in chronic hemodialyzed patients and usually treated by reducing extracellular fluid. Probing dry weight only based on a…”
Get full text

Infection-related hospitalizations after kidney transplantation in children: incidence, risk factors, and cost by Hogan, Julien, Pietrement, Christine, Sellier-Leclerc, Anne-Laure, Louillet, Ferielle, Salomon, Rémi, Macher, Marie-Alice, Berard, Etienne, Couchoud, Cécile

“…Background Infection is the leading cause of death and hospitalization in renal transplant recipients. We describe posttransplant infections requiring…”
Get full text

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation by Gondra, Leire, Décramer, Stéphane, Chalouhi, Gihad E., Muller, Françoise, Salomon, Rémi, Heidet, Laurence

“…Background HNF1B mutation is the leading cause of isolated hyperechogenic fetal kidneys with normal or moderately large size. Although most cases have normal…”
Get full text

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes by Mollet, Géraldine, Silbermann, Flora, Delous, Marion, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie

“…Nephrocystin and nephrocystin-4 are newly identified proteins involved in familial juvenile nephronophthisis, an autosomal recessive nephropathy characterized…”
Get full text

Body composition monitoring-derived urea distribution volume in children on chronic hemodialysis by Zaloszyc, Ariane, Fischbach, Michel, Schaefer, Betti, Uhlmann, Lorenz, Salomon, Rémi, Krid, Saoussen, Schmitt, Claus Peter

“…Background Modern hemodialysis (HD) machines are able to measure ionic dialysance online and thereby continuously monitor Kt/V. The accuracy of measurement…”
Get full text