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

Holoprosencephaly-polydactyly syndrome: in search of an etiology

Por Cordero, Dwight R, Bendavid, Claude, Shanske, Alan L, Haddad, Bassem R, Muenke., Maximilian
Publicado em 2007

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Por Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A
Publicado em 2006

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

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

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

Review of Disrupted Sleep Patterns in Smith-Magenis Syndrome and Normal Melatonin Secretion in a Patient with an Atypical Interstitial 17p11.2 Deletion

Por Boudreau, Eilis A., Johnson, Kyle P., Jackman, Angela R., Blancato, Jan, Huizing, Marjan, Bendavid, Claude, Jones, MaryPat, Chandrasekharappa, Settara C., Lewy, Alfred J., Smith, Ann C. M., Magenis, R. Ellen
Publicado em 2009

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

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

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Por Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique, Laumonnier, Frédéric, Odent, Sylvie, Le Vacon, Gael, Joly-Helas, Géraldine, David, Véronique, Bendavid, Claude, Pinoit, Jean-Michel, Henry, Céline, Impallomeni, Caterina, Germano, Eva, Tortorella, Gaetano, Di Rosa, Gabriella, Barthelemy, Catherine, Andres, Christian, Faivre, Laurence, Frébourg, Thierry, Saugier Veber, Pascale, Campion, Dominique
Publicado em 2009