Search Results - "Vincent Morinière"

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia by Jordan, Penelope, Arrondel, Christelle, Bessières, Bettina, Tessier, Aude, Attié-Bitach, Tania, Guterman, Sarah, Morinière, Vincent, Antignac, Corinne, Saunier, Sophie, Gubler, Marie-Claire, Heidet, Laurence

“…DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney…”
Get more information

Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology by Gómez‐Conde, Sara, Dunand, Olivier, Hummel, Aurélie, Morinière, Vincent, Gauthier, Marion, Mesnard, Laurent, Heidet, Laurence

“…Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi‐allelic…”
Get full text

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…”
Get full text

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…”
Get full text

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin by Ekici, Arif B, Hackenbeck, Thomas, Morinière, Vincent, Pannes, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B, Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B, Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, André, Eckardt, Kai-Uwe, Wiesener, Michael S

“…For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial…”
Get more information

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function by Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J, Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B, Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S, Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias

“…BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all…”
Get full text

A wave of deep intronic mutations in X-linked Alport syndrome by Boisson, Marie, Arrondel, Christelle, Cagnard, Nicolas, Morinière, Vincent, Arkoub, Zaïna Aït, Saei, Hassan, Heidet, Laurence, Kachmar, Jessica, Hummel, Aurélie, Knebelmann, Bertrand, Bonnet-Dupeyron, Marie-Noëlle, Isidor, Bertrand, Izzedine, Hassane, Legrand, Eric, Couarch, Philippe, Gribouval, Olivier, Bole-Feysot, Christine, Parisot, Mélanie, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

“…X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing…”
Get more information

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…”
Get full text

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…”
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

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases by Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence

“…We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were…”
Get full text

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…”
Get full text

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations by Krug, Pauline, Morinière, Vincent, Marlin, Sandrine, Koubi, Valérie, Gabriel, Heinz D, Colin, Estelle, Bonneau, Dominique, Salomon, Rémi, Antignac, Corinne, Heidet, Laurence

“…Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been…”
Get full text

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis by Tory, Kálmán, Rousset-Rouvière, Caroline, Gubler, Marie-Claire, Morinière, Vincent, Pawtowski, Audrey, Becker, Céline, Guyot, Claude, Gié, Sophie, Frishberg, Yaacov, Nivet, Hubert, Deschênes, Georges, Cochat, Pierre, Gagnadoux, Marie-France, Saunier, Sophie, Antignac, Corinne, Salomon, Rémi

“…Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during…”
Get full text

NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum by Bouchireb, Karim, Boyer, Olivia, Gribouval, Olivier, Nevo, Fabien, Huynh-Cong, Evelyne, Morinière, Vincent, Campait, Raphaëlle, Ars, Elisabet, Brackman, Damien, Dantal, Jacques, Eckart, Philippe, Gigante, Maddalena, Lipska, Beata S., Liutkus, Aurélia, Megarbane, André, Mohsin, Nabil, Ozaltin, Fatih, Saleem, Moin A., Schaefer, Franz, Soulami, Kenza, Torra, Roser, Garcelon, Nicolas, Mollet, Géraldine, Dahan, Karin, Antignac, Corinne

“…ABSTRACT Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in…”
Get full text

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum by Williams, Siân E., Reed, Anita A.C., Galvanovskis, Juris, Antignac, Corinne, Goodship, Tim, Karet, Fiona E., Kotanko, Peter, Lhotta, Karl, Morinière, Vincent, Williams, Paul, Wong, William, Rorsman, Patrik, Thakker, Rajesh V.

“…Familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder, is caused by mutations in the UMOD gene, which encodes Uromodulin, a…”
Get full text