Search Results - Jule, Marilyne Le :: K.UTB vyhledávací portál

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
Published in European journal of human genetics : EJHG (01.12.2021)

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Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

by Azzi, Salah, Blaise, Annick, Steunou, Virginie, Harbison, Madeleine D., Salem, Jennifer, Brioude, Frédéric, Rossignol, Sylvie, Habib, Walid Abi, Thibaud, Nathalie, Neves, Cristina Das, Jule, Marilyne Le, Brachet, Cécile, Heinrichs, Claudine, Bouc, Yves Le, Netchine, Irène
Published in Human mutation (01.10.2014)

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Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

by Azzi, Salah, Steunou, Virginie, Rousseau, Alexandra, Rossignol, Sylvie, Thibaud, Nathalie, Danton, Fabienne, Le Jule, Marilyne, Gicquel, Christine, Le Bouc, Yves, Netchine, Irène
Published in Human mutation (01.02.2011)

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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

by Brioude, Frederic, Netchine, Irène, Praz, Francoise, Le Jule, Marilyne, Calmel, Claire, Lacombe, Didier, Edery, Patrick, Catala, Martin, Odent, Sylvie, Isidor, Bertrand, Lyonnet, Stanislas, Sigaudy, Sabine, Leheup, Bruno, Audebert-Bellanger, Séverine, Burglen, Lydie, Giuliano, Fabienne, Alessandri, Jean-Luc, Cormier-Daire, Valérie, Laffargue, Fanny, Blesson, Sophie, Coupier, Isabelle, Lespinasse, James, Blanchet, Patricia, Boute, Odile, Baumann, Clarisse, Polak, Michel, Doray, Berenice, Verloes, Alain, Viot, Géraldine, Le Bouc, Yves, Rossignol, Sylvie
Published in Human mutation (01.09.2015)

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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

by Abi Habib, Walid, Azzi, Salah, Brioude, Frédéric, Steunou, Virginie, Thibaud, Nathalie, Das Neves, Cristina, Le Jule, Marilyne, Chantot-Bastaraud, Sandra, Keren, Boris, Lyonnet, Stanislas, Michot, Caroline, Rossi, Massimiliano, Pasquier, Laurent, Gicquel, Christine, Rossignol, Sylvie, Le Bouc, Yves, Netchine, Irène
Published in Human molecular genetics (01.11.2014)

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Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

by Azzi, Salah, Steunou, Virginie, Tost, Jörg, Rossignol, Sylvie, Thibaud, Nathalie, Neves, Cristina Das, Le Jule, Marilyne, Habib, Walid Abi, Blaise, Annick, Koudou, Yves, Busato, Florence, Le Bouc, Yves, Netchine, Irène
Published in Journal of medical genetics (01.01.2015)

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