Items where Author is "Odent, Sylvie"

Article

Lessel, Ivana and Baresic, Anja and Chinn, Ivan K. and May, Jonathan and Goenka, Anu and Chandler, Kate E. and Posey, Jennifer E. and Afenjar, Alexandra and Averdunk, Luisa and Bedeschi, Maria Francesca and Besnard, Thomas and Brager, Rae and Brick, Lauren and Brugger, Melanie and Brunet, Theresa and Byrne, Susan and de la Calle-Martin, Oscar and Capra, Valeria and Cardenas, Paul and Chappe, Celine and Chong, Hey J. and Cogne, Benjamin and Conboy, Erin and Cope, Heidi and Courtin, Thomas and Deb, Wallid and Dilena, Robertino and Dubourg, Christele and Elgizouli, Magdeldin and Fernandes, Erica and Fitzgerald, Kristi K. and Gangi, Silvana and George-Abraham, Jaya K. and Gucsavas-Calikoglu, Muge and Haack, Tobias B. and Hadonou, Medard and Hanker, Britta and Huning, Irina and Iascone, Maria and Isidor, Bertrand and Jarvela, Irma and Jin, Jay J. and Jorge, Alexander A. L. and Josifova, Dragana and Kalinauskiene, Ruta and Kamsteeg, Erik-Jan and Keren, Boris and Kessler, Elena and Koelbel, Heike and Kozenko, Mariya and Kubisch, Christian and Kuechler, Alma and Leal, Suzanne M. and Leppala, Juha and Luu, Sharon M. and Lyon, Gholson J. and Madan-Khetarpal, Suneeta and Mancardi, Margherita and Marchi, Elaine and Mehta, Lakshmi and Menendez, Beatriz and Morel, Chantal F. and Harasink, Sue Moyer and Nevay, Dayna-Lynn and Nigro, Vincenzo and Odent, Sylvie and Oegema, Renske and Pappas, John and Pastore, Matthew T. and Perilla-Young, Yezmin and Platzer, Konrad and Powell-Hamilton, Nina and Rabin, Rachel and Rekab, Aisha and Rezende, Raissa C. and Robert, Leema and Romano, Ferruccio and Scala, Marcello and Poths, Karin and Schrauwen, Isabelle and Sebastian, Jessica and Short, John and Sidlow, Richard and Sullivan, Jennifer and Szakszon, Katalin and Tan, Queenie K. G. and Wagner, Matias and Wieczorek, Dagmar and Yuan, Bo and Maeding, Nicole and Strunk, Dirk and Begtrup, Amber and Banka, Siddharth and Lupski, James R. and Tolosa, Eva and Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (2). pp. 394-413. ISSN 0002-9297, 1537-6605

Solomon, Benjamin D. and Bear, Kelly A. and Wyllie, Adrian and Keaton, Amelia A. and Dubourg, Christele and David, Veronique and Mercier, Sandra and Odent, Sylvie and Hehr, Ute and Paulussen, Aimee and Clegg, Nancy J. and Delgado, Mauricio R. and Bale, Sherri J. and Lacbawan, Felicitas and Ardinger, Holly H. and Aylsworth, Arthur S. and Bhengu, Ntombenhle Louisa and Braddock, Stephen and Brookhyser, Karen and Burton, Barbara and Gaspar, Harald and Grix, Art and Horovitz, Dafne and Kanetzke, Erin and Kayserili, Hulya and Lev, Dorit and Nikkel, Sarah M. and Norton, Mary and Roberts, Richard and Saal, Howard and Schaefer, G. B. and Schneider, Adele and Smith, Erika K. and Sowry, Ellen and Spence, M. Anne and Shalev, Stavit A. and Steiner, Carlos E. and Thompson, Elizabeth M. and Winder, Thomas L. and Balog, Joan Z. and Hadley, Donald W. and Zhou, Nan and Pineda-Alvarez, Daniel E. and Roessler, Erich and Muenke, Maximilian (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. JOURNAL OF MEDICAL GENETICS, 49 (7). pp. 473-479. ISSN 0022-2593

Solomon, Benjamin D. and Lacbawan, Felicitas and Mercier, Sandra and Clegg, Nancy J. and Delgado, Mauricio R. and Rosenbaum, Kenneth and Dubourg, Christele and David, Veronique and Olney, Ann Haskins and Wehner, Lars-Erik and Hehr, Ute and Bale, Sherri and Paulussen, Aimee and Smeets, Hubert J. and Hardisty, Emily and Tylki-Szymanska, Anna and Pronicka, Ewa and Clemens, Michelle and McPherson, Elizabeth and Hennekam, Raoul C. M. and Hahn, Jin and Stashinko, Elaine and Levey, Eric and Wieczorek, Dagmar and Roeder, Elizabeth and Schell-Apacik, Chayim Can and Booth, Carol W. and Thomas, Ronald L. and Kenwrick, Sue and Cummings, Derek A. T. and Bous, Sophia M. and Keaton, Amelia and Balog, Joan Z. and Hadley, Donald and Zhou, Nan and Long, Robert and Velez, Jorge I. and Pineda-Alvarez, Daniel E. and Odent, Sylvie and Roessler, Erich and Muenke, Maximilian (2010) Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. JOURNAL OF MEDICAL GENETICS, 47 (8). pp. 513-524. ISSN 0022-2593

Roessler, Erich and El-Jaick, Kenia B. and Dubourg, Christele and Velez, Jorge I. and Solomon, Benjamin D. and Pineda-Alvarez, Daniel E. and Lacbawan, Felicitas and Zhou, Nan and Ouspenskaia, Maia and Paulussen, Aimee and Smeets, Hubert J. and Hehr, Ute and Bendavid, Claude and Bale, Sherri and Odent, Sylvie and David, Veronique and Muenke, Maximilian (2009) The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or Its Altered Synthesis. HUMAN MUTATION, 30 (10). E921-E935. ISSN 1059-7794, 1098-1004