Результаты поиска - Netchine, Irène

SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3 по Hanna, Patrick, Netchine, Irène, Le Stunff, Catherine, Linglart, Agnès

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IGF2: Development, Genetic and Epigenetic Abnormalities по Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène

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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit по Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie

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New Horizons in Short Children Born Small for Gestational Age по Netchine, Irène, van der Steen, Manouk, López-Bermejo, Abel, Koledova, Ekaterina, Maghnie, Mohamad

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Dysgenesis of the Internal Carotid ArteryAssociated with Transsphenoidal Encephalocele:A Neural Crest Syndrome? по Blustajn, Jerry, Netchine, Irène, Frédy, Daniel, Bakouche, Pierre, Piekarski, Jean Daniel, Meder, Jean François

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Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion по Giabicani, Eloïse, Chantot-Bastaraud, Sandra, Bonnard, Adeline, Rachid, Myriam, Whalen, Sandra, Netchine, Irène, Brioude, Frédéric

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

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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants по Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène

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Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot по Houang, Muriel, Nguyen-Khoa, Thao, Eguether, Thibaut, Ribault, Bettina, Brabant, Séverine, Polak, Michel, Netchine, Irène, Lamazière, Antonin

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Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network по Eggermann, Thomas, Davies, Justin H., Tauber, Maithé, van den Akker, Erica, Hokken-Koelega, Anita, Johansson, Gudmundur, Netchine, Irène

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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction по Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

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Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth по Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene

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Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort по Azzi, Salah, Sas, Theo CJ, Koudou, Yves, Le Bouc, Yves, Souberbielle, Jean-Claude, Dargent-Molina, Patricia, Netchine, Irène, Charles, Marie-Aline

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Dental pulp stem cells as a promising model to study imprinting diseases по Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène

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Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care по Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R

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Clinical utility gene card for: Beckwith–Wiedemann Syndrome по 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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Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development по 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

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Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders по Abi Habib, Walid, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Éloïse, Steunou, Virginie, Harbison, Madeleine D., Le Bouc, Yves, Netchine, Irène

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Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 по Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J. A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge

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Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci по Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

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