Search Results - "Delaby, Elsa"

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature by Kolevzon, Alexander, Delaby, Elsa, Berry-Kravis, Elizabeth, Buxbaum, Joseph D, Betancur, Catalina

“…Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia,…”
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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH by 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

“…Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild to moderate…”
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Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism by Pilorge, M, Fassier, C, Le Corronc, H, Potey, A, Bai, J, De Gois, S, Delaby, E, Assouline, B, Guinchat, V, Devillard, F, Delorme, R, Nygren, G, Råstam, M, Meier, J C, Otani, S, Cheval, H, James, V M, Topf, M, Dear, T N, Gillberg, C, Leboyer, M, Giros, B, Gautron, S, Hazan, J, Harvey, R J, Legendre, P, Betancur, C

“…Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and…”
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The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD by Richard, Anne Claire, Rovelet-Lecrux, Anne, Delaby, Elsa, Charbonnier, Camille, Thiruvahindrapuram, Bhooma, Hatchwell, Eli, Eis, Peggy S., Afenjar, Alexandra, Gilbert Dussardier, Brigitte, Scherer, Stephen W., Betancur, Catalina, Campion, Dominique

“…The proline dehydrogenase (PRODH) gene maps to 22q11.2 in the region deleted in the velo‐cardio‐facial syndrome (VCFS). A moderate to severe reduction (>50%)…”
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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder by Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina

“…Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder…”
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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH by 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

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