Search Results - "HEIDET, Laurence"

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group by Kashtan, Clifford E, Ding, Jie, Garosi, Guido, Heidet, Laurence, Massella, Laura, Nakanishi, Koichi, Nozu, Kandai, Renieri, Alessandra, Rheault, Michelle, Wang, Fang, Gross, Oliver

“…Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major…”
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Human mutations affect the epigenetic/bookmarking function of HNF1B by Lerner, Jonathan, Bagattin, Alessia, Verdeguer, Francisco, Makinistoglu, Munevver P, Garbay, Serge, Felix, Tristan, Heidet, Laurence, Pontoglio, Marco

“…Bookmarking factors are transcriptional regulators involved in the mitotic transmission of epigenetic information via their ability to remain associated with…”
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Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2 by El Karoui, Khalil, Viau, Amandine, Dellis, Olivier, Bagattin, Alessia, Nguyen, Clément, Baron, William, Burtin, Martine, Broueilh, Mélanie, Heidet, Laurence, Mollet, Géraldine, Druilhe, Anne, Antignac, Corinne, Knebelmann, Bertrand, Friedlander, Gérard, Bienaimé, Frank, Gallazzini, Morgan, Terzi, Fabiola

“…In chronic kidney disease (CKD), proteinuria results in severe tubulointerstitial lesions, which ultimately lead to end-stage renal disease. Here we identify…”
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Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity by Faviez, Carole, Vincent, Marc, Garcelon, Nicolas, Boyer, Olivia, Knebelmann, Bertrand, Heidet, Laurence, Saunier, Sophie, Chen, Xiaoyi, Burgun, Anita

“…Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need…”
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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract by Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile

“…Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected…”
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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy by Gross, Oliver, Licht, Christoph, Anders, Hans J, Hoppe, Bernd, Beck, Bodo, Tönshoff, Burkhard, Höcker, Britta, Wygoda, Simone, Ehrich, Jochen H H, Pape, Lars, Konrad, Martin, Rascher, Wolfgang, Dötsch, Jörg, Müller-Wiefel, Dirk E, Hoyer, Peter, Knebelmann, Bertrand, Pirson, Yves, Grunfeld, Jean-Pierre, Niaudet, Patrick, Cochat, Pierre, Heidet, Laurence, Lebbah, Said, Torra, Roser, Friede, Tim, Lange, Katharina, Müller, Gerhard A, Weber, Manfred

“…Alport syndrome inevitably leads to end-stage renal disease and there are no therapies known to improve outcome. Here we determined whether…”
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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice by De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile

“…Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected…”
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Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative by Kashtan, Clifford E., Ding, Jie, Gregory, Martin, Gross, Oliver, Heidet, Laurence, Knebelmann, Bertrand, Rheault, Michelle, Licht, Christoph

“…We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in clinical trials. Our goal is to promote…”
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Improving mutation screening in familial hematuric nephropathies through next generation sequencing by Morinière, Vincent, Dahan, Karin, Hilbert, Pascale, Lison, Marieline, Lebbah, Said, Topa, Alexandra, Bole-Feysot, Christine, Pruvost, Solenn, Nitschke, Patrick, Plaisier, Emmanuelle, Knebelmann, Bertrand, Macher, Marie-Alice, Noel, Laure-Hélène, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence

“…Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane…”
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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases by Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi

“…Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is critical for the development of kidney and pancreas. In humans, mutations in HNF1B…”
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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations by Temme, Johanna, Peters, Frederick, Lange, Katharina, Pirson, Yves, Heidet, Laurence, Torra, Roser, Grunfeld, Jean-Pierre, Weber, Manfred, Licht, Christoph, Müller, Gerhard-Anton, Gross, Oliver

“…We studied here the clinical course of heterozygous carriers of X-linked Alport syndrome and a subgroup of patients with thin basement membrane disease due to…”
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Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease by Fila, Marc, Morinière, Vincent, Eckart, Philippe, Terzic, Joelle, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence

“…Background Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system ( AGT , ACE , REN , AGTR1 ) are associated with…”
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The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results by Bassanese, Giulia, Wlodkowski, Tanja, Servais, Aude, Heidet, Laurence, Roccatello, Dario, Emma, Francesco, Levtchenko, Elena, Ariceta, Gema, Bacchetta, Justine, Capasso, Giovambattista, Jankauskiene, Augustina, Miglinas, Marius, Ferraro, Pietro Manuel, Montini, Giovanni, Oh, Jun, Decramer, Stephane, Levart, Tanja Kersnik, Wetzels, Jack, Cornelissen, Elisabeth, Devuyst, Olivier, Zurowska, Aleksandra, Pape, Lars, Buescher, Anja, Haffner, Dieter, Marcun Varda, Natasa, Ghiggeri, Gian Marco, Remuzzi, Giuseppe, Konrad, Martin, Longo, Germana, Bockenhauer, Detlef, Awan, Atif, Andersone, Ilze, Groothoff, Jaap W, Schaefer, Franz

“…Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare…”
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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease by Audrézet, Marie-Pierre, Corbiere, Christine, Lebbah, Said, Morinière, Vincent, Broux, Françoise, Louillet, Ferielle, Fischbach, Michel, Zaloszyc, Ariane, Cloarec, Sylvie, Merieau, Elodie, Baudouin, Véronique, Deschênes, Georges, Roussey, Gwenaelle, Maestri, Sandrine, Visconti, Chiara, Boyer, Olivia, Abel, Carine, Lahoche, Annie, Randrianaivo, Hanitra, Bessenay, Lucie, Mekahli, Djalila, Ouertani, Ines, Decramer, Stéphane, Ryckenwaert, Amélie, Cornec-Le Gall, Emilie, Salomon, Rémi, Ferec, Claude, Heidet, Laurence

“…Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying…”
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Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes by Dorval, Guillaume, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania, Amiel, Jeanne, Spaggari, Emmanuel, Ville, Yves, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, Heidet, Laurence

“…Background Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a…”
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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes by Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Jelena Martinovic, Pierre Dechelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michele Mathieu, Bruno Turlin, Tania Attie-Bitach, Rémi Salomon, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with…”
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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…”
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Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations by Bollée, Guillaume, Dahan, Karin, Flamant, Martin, Morinière, Vincent, Pawtowski, Audrey, Heidet, Laurence, Lacombe, Didier, Devuyst, Olivier, Pirson, Yves, Antignac, Corinne, Knebelmann, Bertrand

“…UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific…”
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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…”
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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease by Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

“…The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal…”
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