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

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

Por Mercier, Sandra, David, Véronique, Ratié, Leslie, Gicquel, Isabelle, Odent, Sylvie, Dupé, Valérie
Publicado em 2013

A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

Por Sureka, Dimple, Stheneur, Chantal, Odent, Sylvie, Arno, Gavin, Murphy, Daniel, Bernstein, Jonathan A.
Publicado no J Pediatr Genet (2014)

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)

Por Burel, Agnès, Mouchel, Thomas, Odent, Sylvie, Tiker, Filiz, Knebelmann, Bertrand, Pellerin, Isabelle, Guerrier, Daniel
Publicado em 2006

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

Por Robert, Cyrille, Pasquier, Laurent, Cohen, David, Fradin, Mélanie, Canitano, Roberto, Damaj, Léna, Odent, Sylvie, Tordjman, Sylvie
Publicado no Int J Mol Sci (2017)

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

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

Por Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Publicado em 2011

Psychiatric adult-onset of urea cycle disorders: A case-series

Por Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François
Publicado no Mol Genet Metab Rep (2017)

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)

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