Holoprosencephaly

door Henry Catherine, Pasquier Laurent, Bendavid Claude, Dubourg Christèle, Odent Sylvie, David Véronique
Gepubliceerd in 2007-02-01

Holoprosencephaly

door Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
Gepubliceerd in 2007

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

door Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Gepubliceerd in 2010

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

door Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
Gepubliceerd in 2013

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

door Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian
Gepubliceerd in 2009

Clinical utility gene card for: Holoprosencephaly

door Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich
Gepubliceerd in 2011

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

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

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

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

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

door 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.
Gepubliceerd in 2008

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

door 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
Gepubliceerd in 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

door 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
Gepubliceerd in 2009

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

door 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
Gepubliceerd in 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...

door 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
Gepubliceerd in JIMD Rep (2015)

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

door 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
Gepubliceerd in 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly

door 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
Gepubliceerd in 2011

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

door 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
Gepubliceerd in 2009

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

door 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
Gepubliceerd in PLoS One (2015)

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

door 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
Gepubliceerd in 2011

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

door 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
Gepubliceerd in 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...

door 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
Gepubliceerd in 2009