Holoprosencephaly

Bằng Henry Catherine, Pasquier Laurent, Bendavid Claude, Dubourg Christèle, Odent Sylvie, David Véronique
Được phát hành 2007-02-01

Holoprosencephaly

Bằng Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
Được phát hành 2007

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Bằng Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Được phát hành 2010

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

Bằng Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
Được phát hành 2013

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

Bằng Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian
Được phát hành 2009

Clinical utility gene card for: Holoprosencephaly

Bằng Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich
Được phát hành 2011

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

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

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

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

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

Bằng 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.
Được phát hành 2008

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

Bằng 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
Xuất bản năm 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

Bằng 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
Được phát hành 2009

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

Bằng 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
Được phát hành 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...

Bằng 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
Xuất bản năm JIMD Rep (2015)

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

Bằng 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
Được phát hành 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly

Bằng 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
Được phát hành 2011

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

Bằng 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
Được phát hành 2009

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Bằng 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
Xuất bản năm PLoS One (2015)

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

Bằng 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
Được phát hành 2011

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

Bằng 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
Được phát hành 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...

Bằng 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
Được phát hành 2009