Search Results - "Mosca‐Boidron, A.‐L."

Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes by Chauvet-Gélinier, J.-C., Mosca-Boidron, A.-L., Lemogne, C., Ragot, S., Forestier, N., Callegarin, D., Allard, C., Rebaï, A., Bouillet, B., Ponavoy, E., Simoneau, I., Petit, J.-M., Bondolfi, G., Callier, P., Trojak, B., Bonin, B., Vergès, B.

“…Type A personality has been associated with increased survival in people with type 1 diabetes (T1D). Systemic low-grade inflammation may play a critical role,…”
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What can we learn from old microdeletion syndromes using array-CGH screening? by Mosca-Boidron, A L, Bouquillon, S, Faivre, L, Callier, P, Andrieux, J, Marle, N, Bonnet, C, Vincent-Delorme, C, Berri, M, Plessis, G, Manouvrier-Hanu, S, Dieux-Coeslier, A, Thauvin-Robinet, C, Pipiras, E, Delahaye, A, Payet, M, Ragon, C, Masurel-Paulet, A, Questiaux, E, Benzacken, B, Jonveaux, P, Mugneret, F, Holder-Espinasse, M

“…Mosca‐Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent‐Delorme C, Berri M, Plessis G, Manouvrier‐Hanu S, Dieux‐Coeslier A,…”
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders by Mercati, O, Huguet, G, Danckaert, A, André-Leroux, G, Maruani, A, Bellinzoni, M, Rolland, T, Gouder, L, Mathieu, A, Buratti, J, Amsellem, F, Benabou, M, Van-Gils, J, Beggiato, A, Konyukh, M, Bourgeois, J-P, Gazzellone, M J, Yuen, R K C, Walker, S, Delépine, M, Boland, A, Régnault, B, Francois, M, Van Den Abbeele, T, Mosca-Boidron, A L, Faivre, L, Shimoda, Y, Watanabe, K, Bonneau, D, Rastam, M, Leboyer, M, Scherer, S W, Gillberg, C, Delorme, R, Cloëz-Tayarani, I, Bourgeron, T

“…Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5…”
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability by Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L

“…The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic…”
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Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers by El Chehadeh, S., Bonnet, C., Callier, P., Béri, M., Dupré, T., Payet, M., Ragon, C., Mosca-Boidron, A. L., Marle, N., Mugneret, F., Masurel-Paulet, A., Thevenon, J., Seta, N., Duplomb, L., Jonveaux, P., Faivre, L., Thauvin-Robinet, C.

“…Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several…”
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? by El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot‐Bastaraud, S., Doco‐Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca‐Boidron, A.‐L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A.‐M., Chambon, P., Satre, V., Coutton, C., Jouk, P.‐S., Devillard, F., Dieterich, K., Afenjar, A., Burglen, L., Moutard, M.‐L., Addor, M.‐C., Lebon, S., Martinet, D., Alessandri, J.‐L., Doray, B., Miguet, M., Devys, D., Saugier‐Veber, P., Drunat, S., Aral, B., Kremer, V., Rondeau, S., Tabet, A.‐C., Thevenon, J., Thauvin‐Robinet, C., Perreton, N., Des Portes, V., Faivre, L.

“…Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy,…”
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey by Lefebvre, M., Sanlaville, D., Marle, N., Thauvin-Robinet, C., Gautier, E., Chehadeh, S.E., Mosca-Boidron, A.-L., Thevenon, J., Edery, P., Alex-Cordier, M.-P., Till, M., Lyonnet, S., Cormier-Daire, V., Amiel, J., Philippe, A., Romana, S., Malan, V., Afenjar, A., Marlin, S., Chantot-Bastaraud, S., Bitoun, P., Heron, B., Piparas, E., Morice-Picard, F., Moutton, S., Chassaing, N., Vigouroux-Castera, A., Lespinasse, J., Manouvrier-Hanu, S., Boute-Benejean, O., Vincent-Delorme, C., Petit, F., Meur, N.L., Marti-Dramard, M., Guerrot, A.-M., Goldenberg, A., Redon, S., Ferrec, C., Odent, S., Caignec, C.L., Mercier, S., Gilbert-Dussardier, B., Toutain, A., Arpin, S., Blesson, S., Mortemousque, I., Schaefer, E., Martin, D., Philip, N., Sigaudy, S., Busa, T., Missirian, C., Giuliano, F., Benailly, H.K., Kien, P.K.V., Leheup, B., Benneteau, C., Lambert, L., Caumes, R., Kuentz, P., François, I., Heron, D., Keren, B., Cretin, E., Callier, P., Julia, S., Faivre, L.

“…Microarray‐based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital…”
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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome by El Chehadeh-Djebbar, Salima, Faivre, Laurence, Moncla, Anne, Aral, Bernard, Missirian, Chantal, Popovici, Cornel, Rump, Patrick, Van Essen, Anthonie, Frances, Anne-Marie, Gigot, Nadège, Cusin, Veronica, Masurel-Paulet, Alice, Gueneau, Lucie, Payet, Muriel, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Balikova, Irina, Teyssier, Jean-Raymond, Mugneret, Francine, Thauvin-Robinet, Christel, Callier, Patrick

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