Recent Advances in Imprinting Disorders von Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.

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Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance von Brioude, F., Lacoste, A., Netchine, I., Vazquez, M.-P., Auber, F., Audry, G., Gauthier-Villars, M., Brugieres, L., Gicquel, C., Le Bouc, Y., Rossignol, S.

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CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome von Brioude, F, Oliver-Petit, I, Blaise, A, Praz, F, Rossignol, S, Jule, M Le, Thibaud, N, Faussat, A-M, Tauber, M, Bouc, Y Le, Netchine, I

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The current landscape of European registries for rare endocrine conditions von Ali, S R, Bryce, J, Cools, M, Korbonits, M, Beun, J G, Taruscio, D, Danne, T, Dattani, M, Dekkers, O M, Linglart, A, Netchine, I, Nordenstrom, A, Patocs, A, Persani, L, Reisch, N, Smyth, A, Sumnik, Z, Visser, W E, Hiort, O, Pereira, A M, Ahmed, S F

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Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project von Ali, S R, Bryce, J, Priego-Zurita, A L, Cherenko, M, Smythe, C, de Rooij, T M, Cools, M, Danne, T, Katugampola, H, Dekkers, O M, Hiort, O, Linglart, A, Netchine, I, Nordenstrom, A, Attila, P, Persani, L, Reisch, N, Smyth, A, Sumnik, Z, Taruscio, D, Visser, W E, Pereira, A M, Appelman-Dijkstra, N M, Ahmed, S F

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Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells von Pham, A, Selenou, C, Giabicani, E, Fontaine, V, Marteau, S, Brioude, F, David, L, Mitanchez, D, Sobrier, M L, Netchine, I

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Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion von Blustajn, J, Kirsch, C.F.E, Panigrahy, A, Netchine, I

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Ovarian-sparing surgery for ovarian teratoma in children von Chabaud-Williamson, M., Netchine, I., Fasola, S., Larroquet, M., Lenoir, M., Patte, C., Bénifla, J.L., Coulomb-L'herminé, A., Grapin, C., Audry, G., Auber, F.

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Epigenetics, genomic imprinting and assisted reproductive technology von Le Bouc, Y., Rossignol, S., Azzi, S., Steunou, V., Netchine, I., Gicquel, C.

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PO4-9: Complex tissue-specific epigenotypes in Russell Silver syndrome with 11p15 ICR1 hypomethylation: major consequences for the diagnosis von Azzi, S, Blaise, A, Steunou, V, Thibaud, N, Le Bouc, Y, Netchine, I

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Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene von NETCHINE, I, TALON, P, DASTOT, F, VITAUX, F, GOOSSENS, M, AMSELEM, S

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Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation von Abadie, C, Bernard, F, Netchine, I, Sanlaville, D, Roque, A, Rossignol, S, Coupier, I

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Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis von Bui, C., Picone, O., Mas, A. E., Levaillant, J. M., Ami, O., Netchine, I., Frydman, R., Senat, M. V.

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Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment von Lokulo‐Sodipe, Oluwakemi, Giabicani, Eloïse, Canton, Ana P. M., Ferrand, Nawfel, Child, Jenny, Wakeling, Emma L., Binder, Gerhard, Netchine, Irène, Mackay, Deborah J. G., Inskip, Hazel M., Byrne, Christopher D., Temple, I. Karen, Davies, Justin H.

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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) von Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, Irène, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J, Zenker, Martin, Prawitt, Dirk, Pereira, Alberto M, Hiort, Olaf, Riedl, Stefan, Vila, Greisa, Baumgartner-Parzner, Sabina, Heinrichs, Claudine, Maiter, Dominique, Gies, Inge, Cools, Martine, Casteels, Kristina, Beckers, Albert, Zacharieva, Sabina, Iotova, Violeta, Rahelic, Dario, Neocleous, Vassos, Phylactou, Leonidas, Krsek, Michal, Lebl, Jan, Gravholt, Claus, Tillmann, Vallo, Volke, Vallo, Ebeling, Tapani, Brue, Thierry, Bertherat, Jérôme, Bernert, Christine Poitou, Touraine, Philippe, Chanson, Philippe, Polak, Michel, Tauber, Maithe, Spranger, Joachim, Fuhrer, Dagmar, Danne, Thomas, Mohnike, Klaus, Reisch, Nicole, Reincke, Martin, Rohayem, Julia, Fassnacht, Martin, Tóth, Miklós, Cassio, Alessandra, Toni, Sonia, Piccini, Barbara, Ferone, Diego, Russo, Gianni, Persani, Luca, Colao, Annamaria, Salerno, Mariacarolina, Boscaro, Marco, Scaroni, Carla, Santini, Ferruccio, Ceccarini, Giovanni, Ghigo, Ezio, Dzivite - Krisane, Iveta, Rovite, Vita, Janozola, Lauma, Verkauskiene, Rasa, Witsch, Michael, Clark, James, Romijn, Johannes, Links, Thera, Biermasz, Nienke, Hannema, Sabine, Havekes, Bas, der Grinten, Hedi Claahsen-van, Timmers, Henri, Peeters, Robin, Valk, Gerlof, Stuart, A. A. Verrijn, Husebye, Eystein, Bollerslev, Jens, Jarzab, Barbara, Szypowska, Agnieszka, Raposo, João-Filipe, Craiu, Dana, Piciu, Doina, Kostalova, Ludmila, Vojtková, Jarmila, Battelino, Tadej, Cardona-Hernandez, Roque, Yeste, Diego, Gaztambide, Sonia, Nordenström, Anna, Gittoes, Neil, Cole, Trevor, Ahmed, Faisal, Didi, Mohammed, Korbonits, Marta, Dattani, Mehul, Clayton, Peter, Davies, Justin

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Pituitary stalk interruption syndrome : A clinical-biological-genetic assessment of its pathogenesis von PINTO, G, NETCHINE, I, SOBRIER, M. L, BRUNELLE, F, SOUBERBIELLE, J. C, BRAUNER, R

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Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development von Sobrier, M.-L., Attié-Bitach, T., Netchine, I., Encha-Razavi, F., Vekemans, M., Amselem, S.

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Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region von Burgevin, M., Lacroix, A., Brown, G., Mikaty, M., Toutain, A., Vincent, M., Martin-Coignard, D., Petit, F., Coutant, R., Thauvin-Robinet, C., Donadille, B., Netchine, I., Odent, S.

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Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives von van der Kaay, Danielle Christine Maria, Rochtus, Anne, Binder, Gerhard, Kurth, Ingo, Prawitt, Dirk, Netchine, Irène, Johannsson, Gudmundur, Hokken-Koelega, Anita C S, Elbracht, Miriam, Eggermann, Thomas

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P-83 Study of two IGF-1R gene expression variants von Steunou, V, Azzi, S, Rossignol, S, Netchine, I, Le Bouc, Y

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