Search Results - "Coutton, C."

Genetic abnormalities leading to qualitative defects of sperm morphology or function by Ray, P.F., Toure, A., Metzler‐Guillemain, C., Mitchell, M.J., Arnoult, C., Coutton, C.

“…Infertility, defined by the inability of conceiving a child after 1 year is estimated to concern approximately 50 million couples worldwide. As the male gamete…”
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Teratozoospermia: spotlight on the main genetic actors in the human by Coutton, Charles, Escoffier, Jessica, Martinez, Guillaume, Arnoult, Christophe, Ray, Pierre F

“…Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis…”
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Single gene defects leading to sperm quantitative anomalies by Mitchell, M.J., Metzler‐Guillemain, C., Toure, A., Coutton, C., Arnoult, C., Ray, P.F.

“…Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive…”
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Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study by Egloff, M., Hervé, B., Quibel, T., Jaillard, S., Le Bouar, G., Uguen, K., Saliou, A.‐H., Valduga, M., Perdriolle, E., Coutton, C., Coston, A.‐L., Coussement, A., Anselem, O., Missirian, C., Bretelle, F., Prieur, F., Fanget, C., Muti, C., Jacquemot, M.‐C., Beneteau, C., Le Vaillant, C., Vekemans, M., Salomon, L. J., Vialard, F., Malan, V.

“…ABSTRACT Objective To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort…”
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Immortalization of primary sheep embryo kidney cells by Seridi, N., Hamidouche, M., Belmessabih, N., El Kennani, S., Gagnon, J., Martinez, G., Coutton, C., Marchal, T., Chebloune, Y.

“…Sheep primary epithelial cells are short-lived in cell culture systems. For long-term in vitro studies, primary cells need to be immortalized. This study aims…”
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MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia by Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous…”
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Diagnostic Yield of Chromosomal Microarray Analysis in Fetuses With Isolated Increased Nuchal Translucency: A French Multicenter Study by Egloff, M, Hervé, B, Quibel, T, Jaillard, S, Le Bouar, G, Uguen, K, Saliou, A.-H, Valduga, M, Perdriolle, E, Coutton, C, Coston, A.-L, Coussement, A, Anselem, O, Missirian, C, Bretelle, F, Prieur, F, Fanget, C, Muti, C, Jacquemot, M.-C, Beneteau, C, Le Vaillant, C, Vekemans, M, Salomon, L J, Vialard, F, Malan, V

“…(Abstracted from Ultrasound Obstet Gynecol 2018;52:715–721)Nuchal translucency (NT) is a collection of fluid at the back of the fetal neck; its thickness can…”
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Comprehensive investigation in patients affected by globozoospermia by Coutton, C., Arnoult, C., Ray, P. F.

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Intellectual disability, oncogenes and tumour suppressor genes: the way forward? by BIDART, M., COUTTON, C.

“…Intellectual disability affects 13% of the population and is characterized by limitation in intellectual function and adaptive behavior, with onset in…”
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190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly by Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V

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Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene by Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P.-S., Satre, V.

“…Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by…”
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Multiplex Ligation-dependent Probe Amplification (MLPA) et sondes « à façon » entièrement synthétiques. Guide pratique, recommandations et expérience au CHU de Grenoble by Coutton, C, Vieville, G, Satre, V, Devillard, F, Amblard, F

“…Résumé La Multiplex Ligation-dependent Probe Amplification (MLPA) est une technique robuste de quantification génique basée sur la ligation et l’amplification…”
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus by Jacquemont, Sébastien, Reymond, Alexandre, Walters, Robin G., Kutalik, Zoltán, Valsesia, Armand, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Vries, Bert B. A., Esko, Tõnu, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Frank Kooy, R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Wu, Bai-lin, Yu, Yongguo, Addor, Marie-Claude, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bergmann, Sven, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Brunner, Han G., Cailley, Dorothée, Chrast, Jacqueline, Coutton, Charles, Cuisset, Jean-Marie, de Freminville, Bénédicte, Demeer, Bénédicte, Descamps, Dominique, Disciglio, Vittoria, Doco-Fenzy, Martine, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Faivre, Laurence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Hartikainen, Anna-Liisa, Heron, Délphine, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Legallic, Solenn, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Marshall, Christian, McCarthy, Mark I., Meitinger, Thomas, Merla, Giuseppe, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Plessis, Ghislaine, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Roetzer, Katharina M., Rooryck, Caroline, Schurmann, Claudia, Stavropoulos, Dimitri J., Tengström, Carola, Tinahones, Francisco J., Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Andrieux, Joris, Estivill, Xavier, Gusella, James F., Stefansson, Kari, Beckmann, Jacques S., Froguel, Philippe

“…Genomic balance: underweight as a mirror image of obesity Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated…”
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In vitro study of Seraspenide on HIV-induced inhibition of granulopoiesis by Coutton, C., Chermann, J. C.

“…Soluble(s) factor(s) produced by HIV‐infected cells have been implicated in bone marrow dysfunction observed in AIDS patients. We have shown previously that…”
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype by Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

“…Molecular anomalies in MED13L , leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct…”
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Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia by Ben Khelifa, Mariem, Coutton, Charles, Blum, Michael G.B., Abada, Farid, Harbuz, Radu, Zouari, Raoudha, Guichet, Agnès, May-Panloup, Pascale, Mitchell, Valérie, Rollet, Jacques, Triki, Chema, Merdassi, Ghaya, Vialard, François, Koscinski, Isabelle, Viville, Stéphane, Keskes, Leila, Soulie, Jean Pierre, Rives, Nathalie, Dorphin, Béatrice, Lestrade, Florence, Hesters, Laeticia, Poirot, Catherine, Benzacken, Brigitte, Jouk, Pierre-Simon, Satre, Véronique, Hennebicq, Sylviane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…STUDY QUESTION Can we identify new sequence variants in the aurora kinase C gene (AURKC) of patients with macrozoospermia and establish a genotype–phenotype…”
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Photoprotection of normal human hematopoietic progenitors by the tetrapeptide N-AcSDKP by Coutton, C, Guigon, M, Bohbot, A, Ferrani, K, Oberling, F

“…The tetrapeptide AcSDKP (Ser-Asp-Lys-Pro) is a reversible inhibitor of normal human hematopoietic progenitor growth. In this paper, we report that…”
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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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Symmetry Constraints Mediate the Learning and Transfer of Bimanual Coordination Patterns Across Planes of Motion by Temprado, J. J., Swinnen, S. P., Coutton-Jean, C., Salesse, R.

“…The authors investigated whether neuromuscular and directional constraints are dissociable limitations that affect learning and transfer of a bimanual…”
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Lentigines et maladie de Peutz–Jeghers by Palladini, A., Chiaverini, C., Zaafrane, K., Karmous-Benailly, H., Héron, D., Chantot-Bastaraud, S., Coutton, C., Vieville, G.

“…Les lentiginoses sont définies par la présence de lentigines (macules hyperpigmentées homogènes de petite taille) en nombre augmenté ou de distribution…”
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