P057 Modulation du métabolisme protéique par les AGPI n-3 pendant l’amaigrissement chez le rat von Guelzim, N., Mathé, V., Huneau, J.-F., Simon, N., Daire, F., Mariotti, F., Hermier, D.

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P057 Modulation du métabolisme protéique par les AGPI n-3 pendant l’amaigrissement chez le rat von Guelzim, N., Mathé, V., Huneau, J.-F., Simon, N., Daire, F., Mariotti, F., Hermier, D.

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Electrodes modifiees par depot de film polymere nickel-polypyridyl-polypyrrole von Daire, F., Bedioui, F., Devynck, J., Bied-Charreton, C.

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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia von Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi

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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement von Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.

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β-1,3 Glucan Sulfate Induces Resistance in Grapevine against Plasmopara viticola Through Priming of Defense Responses, Including HR-like Cell Death von Trouvelot, S, Varnier, A.L, Allegre, M, Mercier, L, Baillieul, F, Arnould, C, Gianinazzi-Pearson, V, Klarzynski, O, Joubert, J.M, Pugin, A

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome von Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome von Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T, Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S, Kurdi, Wesam I Y, Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S, Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S, Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations von Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R.P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen

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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux von Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases von Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah

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NANS-mediated synthesis of sialic acid is required for brain and skeletal development von van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

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Genotypes and Phenotypes of Children with SHOX Deficiency in France von Rosilio, Myriam, Huber-Lequesne, Céline, Sapin, Hélène, Carel, Jean-Claude, Blum, Werner F, Cormier-Daire, Valérie

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome von Nizon, M., Henry, M., Michot, C., Baumann, C., Bazin, A., Bessières, B., Blesson, S., Cordier-Alex, M.-P., David, A., Delahaye-Duriez, A., Delezoïde, A.-L., Dieux-Coeslier, A., Doco-Fenzy, M., Faivre, L., Goldenberg, A., Layet, V., Loget, P., Marlin, S., Martinovic, J., Odent, S., Pasquier, L., Plessis, G., Prieur, F., Putoux, A., Rio, M., Testard, H., Bonnefont, J.-P., Cormier-Daire, V.

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Using Malaise traps to assess aculeate Hymenoptera associated with farmland linear habitats across a range of farming intensities von Volpato, Alessio, Ahmed, Karzan S. D., Williams, Christopher D., Day, Michael F., O'Hanlon, Aidan, Ruas, Sara, Rotchés‐Ribalta, Roser, Mulkeen, Collette, hUallacháin, Daire Ó, Gormally, Michael J.

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia von Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong‐Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier‐Daire, Valérie, Kim, Ok‐Hwa, Forlino, Antonella, Cho, Tae‐Joon, Mäkitie, Outi

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Craniosynostosis and metabolic bone disorder. A review von Di Rocco, F., Rothenbuhler, A., Cormier Daire, V., Bacchetta, J., Adamsbaum, C., Baujat, G., Rossi, M., Lingart, A.

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Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1 von Ntorkou, A.A., Daire, J., Renaldo, F., Doummar, D., Alison, M., Schiff, M., Elmaleh-Bergès, M.

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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination von Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C, Pie, Juan, Puisac, Beatriz, de Miranda, Noel Fcc, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang

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