Search Results - "Irène Netchine"

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome by Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D

“…Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse…”
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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement by Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

“…Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement…”
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Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction by Abi Habib, Walid, Brioude, Frédéric, Edouard, Thomas, Bennett, James T, Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine D, Netchine, Irène

“…Purpose Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many…”
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IGF2: Development, Genetic and Epigenetic Abnormalities by Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène

“…In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2) knockout mouse models, we have learnt much about the…”
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Executive functioning in adolescents and adults with Silver-Russell syndrome by Burgevin, Mélissa, Lacroix, Agnès, Ollivier, Fanny, Bourdet, Karine, Coutant, Régis, Donadille, Bruno, Faivre, Laurence, Manouvrier-Hanu, Sylvie, Petit, Florence, Thauvin-Robinet, Christel, Toutain, Annick, Netchine, Irène, Odent, Sylvie

“…Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are…”
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Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith‐Wiedemann syndrome by Brioude, Frederic, Netchine, Irène

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Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity by David, Alessia, Hwa, Vivian, Metherell, Louise A, Netchine, Irène, Camacho-Hübner, Cecilia, Clark, Adrian J. L, Rosenfeld, Ron G, Savage, Martin O

“…GH insensitivity (GHI) presents in childhood as growth failure and in its severe form is associated with dysmorphic and metabolic abnormalities. GHI may be…”
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Diagnosis and management of postnatal fetal growth restriction by Giabicani, Eloïse, Pham, Aurélie, Brioude, Frédéric, Mitanchez, Delphine, Netchine, Irène

“…Fetal growth restriction (FGR) can result from multiple causes, such as genetic, epigenetic, environment, hormonal regulation, or vascular troubles and their…”
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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations by Netchine, Irène, Rossignol, Sylvie, Dufourg, Marie-Noëlle, Azzi, Salah, Rousseau, Alexandra, Perin, Laurence, Houang, Muriel, Steunou, Virginie, Esteva, Blandine, Thibaud, Nathalie, Raux Demay, Marie-Charles, Danton, Fabienne, Petriczko, Elzbieta, Bertrand, Anne-Marie, Heinrichs, Claudine, Carel, Jean-Claude, Loeuille, Guy-André, Pinto, Graziella, Jacquemont, Marie-Line, Gicquel, Christine, Cabrol, Sylvie, Le Bouc, Yves

“…Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry,…”
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A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair by Agnani, Héléna, Bachelot, Guillaume, Eguether, Thibaut, Ribault, Bettina, Fiet, Jean, Le Bouc, Yves, Netchine, Irène, Houang, Muriel, Lamazière, Antonin

“…In children with premature pubarche (PP), late onset 21-hydroxylase deficiency (21-OHD), also known as non-classical congenital adrenal hyperplasia (NCCAH),…”
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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants by Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène

“…Silver-Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. Loss of methylation (LOM) on chromosome…”
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Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development by Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves

“…Context: IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor, IGF-1R,…”
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome by Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah Jg, Eggermann, Thomas

“…Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the…”
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Intellectual functioning in Silver-Russell syndrome: First study in adults by Burgevin, Mélissa, Lacroix, Agnès, Brown, Genavee, Mikaty, Myriam, Coutinho, Virginie, Netchine, Irène, Odent, Sylvie

“…Silver-Russell syndrome (SRS) is a rare genetic disorder (estimated incidence 1/30,000 to 100,000 live births). So far, only a few studies have focused on the…”
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Dental pulp stem cells as a promising model to study imprinting diseases by Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène

“…Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting diseases are…”
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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) by Fiot, Elodie, Alauze, Bertille, Donadille, Bruno, Samara-Boustani, Dinane, Houang, Muriel, De Filippo, Gianpaolo, Bachelot, Anne, Delcour, Clemence, Beyler, Constance, Bois, Emilie, Bourrat, Emmanuelle, Bui Quoc, Emmanuel, Bourcigaux, Nathalie, Chaussain, Catherine, Cohen, Ariel, Cohen-Solal, Martine, Da Costa, Sabrina, Dossier, Claire, Ederhy, Stephane, Elmaleh, Monique, Iserin, Laurence, Lengliné, Hélène, Poujol-Robert, Armelle, Roulot, Dominique, Viala, Jerome, Albarel, Frederique, Bismuth, Elise, Bernard, Valérie, Bouvattier, Claire, Brac, Aude, Bretones, Patricia, Chabbert-Buffet, Nathalie, Chanson, Philippe, Coutant, Regis, de Warren, Marguerite, Demaret, Béatrice, Duranteau, Lise, Eustache, Florence, Gautheret, Lydie, Gelwane, Georges, Gourbesville, Claire, Grynberg, Mickaël, Gueniche, Karinne, Jorgensen, Carina, Kerlan, Veronique, Lebrun, Charlotte, Lefevre, Christine, Lorenzini, Françoise, Manouvrier, Sylvie, Pienkowski, Catherine, Reynaud, Rachel, Reznik, Yves, Siffroi, Jean-Pierre, Tabet, Anne-Claude, Tauber, Maithé, Vautier, Vanessa, Tauveron, Igor, Wambre, Sebastien, Zenaty, Delphine, Netchine, Irène, Polak, Michel, Touraine, Philippe, Carel, Jean-Claude, Christin-Maitre, Sophie, Léger, Juliane

“…Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in…”
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Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation by Darneau, Diane, Giabicani, Eloïse, Netchine, Irène, Pham, Aurélie

“…A diagnosis of Silver-Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at…”
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Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism by Romanet, Pauline, Osei, Lindsay, Netchine, Irène, Pertuit, Morgane, Enjalbert, Alain, Reynaud, Rachel, Barlier, Anne

“…Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes…”
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Increasing knowledge in IGF1R defects: lessons from 35 new patients by Giabicani, Eloïse, Willems, Marjolaine, Steunou, Virginie, Chantot-Bastaraud, Sandra, Thibaud, Nathalie, Abi Habib, Walid, Azzi, Salah, Lam, Bich, Bérard, Laurence, Bony-Trifunovic, Hélène, Brachet, Cécile, Brischoux-Boucher, Elise, Caldagues, Emmanuelle, Coutant, Regis, Cuvelier, Marie-Laure, Gelwane, Georges, Guemas, Isabelle, Houang, Muriel, Isidor, Bertrand, Jeandel, Claire, Lespinasse, James, Naud-Saudreau, Catherine, Jesuran-Perelroizen, Monique, Perrin, Laurence, Piard, Juliette, Sechter, Claire, Souchon, Pierre-François, Storey, Caroline, Thomas, Domitille, Le Bouc, Yves, Rossignol, Sylvie, Netchine, Irène, Brioude, Frédéric

“…The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a…”
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Clinical utility gene card for: Beckwith-Wiedemann Syndrome by Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna

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