De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Autor: Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric, Fiala, Elise, Grange, Dorothy, Meschino, Wendy, Hiatt, Susan, Cooper, Gregory, Olivié, Hilde, Smith, Wendy, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan, Miramar, Dolores, van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna, Pajusalu, Sander, Õunap, Katrin, Filiano, James, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William, Hevner, Robert, Thauvin-Robinet, Christel

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
Eur J Hum Genet

International audience; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ddfd326ca63d159f3b4ae862dd4248
https://doi.org/10.1038/s41431-020-0571-6

Microdeletion del(22)(q12.1) excluding theMN1gene in a patient with craniofacial anomalies

Autor: Françoise Devillard, Pierre-Simon Jouk, Gaëlle Vieville, Florence Amblard, Fanny Dubois-Teklali, Klaus Dieterich, Sophie Brouillet, Béatrice Morand, Joris Andrieux, Charles Coutton, Véronique Satre, Pierre F. Ray, C Bosson

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
American Journal of Medical Genetics Part A, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩

International audience; Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that MN1 haploinsufficiency may be solel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4313e0899109ca296779c9a21cb039
https://doi.org/10.1002/ajmg.a.37450

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Autor: Pierre Sarda, Guilhem Solé, Fabienne Giuliano, Cyril Goizet, Marie-Ange Delrue, Eva-Lena Stattin, Patricia Fergelot, Nada Houcinat, Hubert Journel, Jacqueline Vigneron, Elisabeth Sarrazin, Benoit Arveiler, S. Deves, Laurence Faivre, Albert David, Clarisse Baumann, Martine Le Merrer, Caroline Abadie, Caroline Rooryck, Elodie Guerineau, Sophie Naudion, Marie-Laure Vuillaume, Nicolas Chassaing, Julie Bouron, Sébastien Moutton, Isabelle Coupry, David Geneviève, Marie-Pierre Cordier, Julie Deforges, Christine Francannet, Didier Lacombe, Danielle Leclair, André Mégarbané, Christophe Hubert

Publikováno v: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩

International audience; Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c69f669f22ba820996b0195e536624fa
https://pubmed.ncbi.nlm.nih.gov/27193221

Molecular dynamics of retinoic acid-induced craniofacial malformations: implications for the origin of gnathostome jaws

Autor: Vieux-Rochas, Maxence, Coen, Laurent, Sato, Takahiro, Kurihara, Yukiko, Gitton, Yorick, Barbieri, Ottavia, Le Blay, Karine, Merlo, Giorgio, Ekker, Marc, Kurihara, Hiroki, Janvier, Philippe, Levi, Giovanni, Blay, Karine Le, Heisenberg, Carl-Philipp

Publikováno v: PLoS ONE, Vol 2, Iss 6, p e510 (2007)
PLoS ONE
PLoS ONE, Public Library of Science, 2007, 2 (6), pp.e510. ⟨10.1371/journal.pone.0000510⟩
PLoS ONE, 2007, 2 (6), pp.e510. ⟨10.1371/journal.pone.0000510⟩

BACKGROUND: Intake of retinoic acid (RA) or of its precursor, vitamin A, during early pregnancy is associated with increased incidence of craniofacial lesions. The origin of these teratogenic effects remains enigmatic as in cranial neural crest cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d121e93395fd2cb76077f58a26ed4c39
http://europepmc.org/articles/PMC1876820?pdf=render

Retinoids control anterior and dorsal properties in the developing forebrain

Autor: Norbert B. Ghyselinck, Aida Halilagic, Vanessa Ribes, Michèle Studer, Maija H. Zile, Pascal Dollé

Publikováno v: Developmental Biology
Developmental Biology, Elsevier, 2007, 303 (1), pp.362-75. ⟨10.1016/j.ydbio.2006.11.021⟩

International audience; We have previously shown that retinoic acid (RA) synthesized by the retinaldehyde dehydrogenase 2 (RALDH2) is required in forebrain development. Deficiency in RA due to inactivation of the mouse Raldh2 gene or to complete abse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22b0d5c05262201727738551daad971
https://hal.archives-ouvertes.fr/hal-00188316