Holoprosencephaly

著者: Henry Catherine, Pasquier Laurent, Bendavid Claude, Dubourg Christèle, Odent Sylvie, David Véronique
出版事項 2007-02-01

Holoprosencephaly

著者: Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
出版事項 2007

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

著者: Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
出版事項 2010

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

著者: Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
出版事項 2013

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

著者: Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian
出版事項 2009

Clinical utility gene card for: Holoprosencephaly

著者: Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich
出版事項 2011

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

著者: Peoc'h, Katell, Damaj, Léna, Pelletier, Romain, Lefèvre, Charles, Dubourg, Christèle, Denis, Marie-Christine, Bendavid, Claude, Odent, Sylvie, Moreau, Caroline
出版年 Mol Genet Metab Rep (2020)

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology

著者: Jaillard, Sylvie, Akloul, Linda, Beaumont, Marion, Hamdi-Roze, Houda, Dubourg, Christele, Odent, Sylvie, Duros, Solène, Dejucq-Rainsford, Nathalie, Belaud-Rotureau, Marc-Antoine, Ravel, Célia
出版年 J Ovarian Res (2016)

Regulation of a remote Sonic hedgehog forebrain enhancer by the Six3 homeoprotein

著者: Jeong, Yongsu, Leskow, Federico Coluccio, El-Jaick, Kenia, Roessler, Erich, Muenke, Maximilian, Yocum, Anastasia, Dubourg, Christele, Li, Xue, Geng, Xin, Oliver, Guillermo, Epstein, Douglas J.
出版事項 2008

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

著者: Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë
出版年 Mol Genet Metab Rep (2020)

The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism

著者: Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian
出版事項 2009

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

著者: Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
出版事項 2010

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HT...

著者: Mazzuca, Michel, Maubert, Marie-Anne, Damaj, Léna, Clot, Fabienne, Cadoudal, Marylène, Dubourg, Christele, Odent, Sylvie, Benoit, Jean François, Bahi-Buisson, Nadia, Christa, Laurence, de Lonlay, Pascale
出版年 JIMD Rep (2015)

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

著者: Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
出版事項 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly

著者: Dupé, Valérie, Rochard, Lucie, Mercier, Sandra, Le Pétillon, Yann, Gicquel, Isabelle, Bendavid, Claude, Bourrouillou, Georges, Kini, Usha, Thauvin-Robinet, Christel, Bohan, Timothy P., Odent, Sylvie, Dubourg, Christèle, David, Véronique
出版事項 2011

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

著者: Jaillard, Sylvie, Dubourg, Christèle, Gérard-Blanluet, Marion, Delahaye, Andrée, Pasquier, Laurent, Dupont, Céline, Henry, Catherine, Tabet, Anne-Claude, Lucas, Josette, Aboura, Azzedine, David, Véronique, Benzacken, Brigitte, Odent, Sylvie, Pipiras, Eva
出版事項 2009

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

著者: Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique
出版年 PLoS One (2015)

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

著者: Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie
出版事項 2011

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH

著者: Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
出版事項 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 I...

著者: Roessler, Erich, El-Jaick, Kenia B., Dubourg, Christèle, Vélez, Jorge I., Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique, Muenke, Maximilian
出版事項 2009