Holoprosencephaly

Por Henry Catherine, Pasquier Laurent, Bendavid Claude, Dubourg Christèle, Odent Sylvie, David Véronique
Publicado em 2007-02-01

Holoprosencephaly

Por Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
Publicado em 2007

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Por Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Publicado em 2010

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

Por Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
Publicado em 2013

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

Por Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian
Publicado em 2009

Clinical utility gene card for: Holoprosencephaly

Por Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich
Publicado em 2011

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

Por Jaillard, Sylvie, Akloul, Linda, Beaumont, Marion, Hamdi-Roze, Houda, Dubourg, Christele, Odent, Sylvie, Duros, Solène, Dejucq-Rainsford, Nathalie, Belaud-Rotureau, Marc-Antoine, Ravel, Célia
Publicado no J Ovarian Res (2016)

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

Por 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.
Publicado em 2008

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

Por 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
Publicado em 2009

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

Por 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
Publicado em 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...

Por 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
Publicado no JIMD Rep (2015)

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

Por 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
Publicado em 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly

Por 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
Publicado em 2011

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

Por 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
Publicado em 2009

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Por 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
Publicado no PLoS One (2015)

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 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...

Por 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
Publicado em 2009

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Por Dykes, Iain M., Szumska, Dorota, Kuncheria, Linta, Puliyadi, Rathi, Chen, Chiann-mun, Papanayotou, Costis, Lockstone, Helen, Dubourg, Christèle, David, Véronique, Schneider, Jurgen E., Keane, Thomas M., Adams, David J., Brown, Steve D. M., Mercier, Sandra, Odent, Sylvie, Collignon, Jérôme, Bhattacharya, Shoumo
Publicado no Sci Rep (2018)

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce...

Por Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique
Publicado em 2010