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Your search keyword '"Mugneret, F"' showing total 8 results
Start Over Author "Mugneret, F" Journal clinical genetics
8 results on '"Mugneret, F"'

1. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

Author

Marle, N., Martinet, D., Aboura, A., Joly-Helas, G., Andrieux, J., Flori, E., Puechberty, J., Vialard, F., Sanlaville, D., Fert Ferrer, S., Bourrouillou, G., Tabet, A. C., Quilichini, B., Simon-Bouy, B., Bazin, A., Becker, M., Stora, H., Amblard, S., Doco-Fenzy, M., Molina Gomes, D., Girard-Lemaire, F., Cordier, M. P., Satre, V., Schneider, A., Lemeur, N., Chambon, P., Jacquemont, S., Fellmann, F., Vigouroux-Castera, A., Molignier, R., Delaye, A., Pipiras, E., Liquier, A., Rousseau, T., Mosca, A. L., Kremer, V., Payet, M., Rangon, C., Mugneret, F., Aho, S., Faivre, L., and Callier, P.

Published
2014
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2. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, M A, 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, P S, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, M C, Journel, H, Colin, E, Van Kien, Khau P, Baumann, C, Leheup, B, Coignard, Martin- D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Boidron, Mosca- AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, and Faivre, L

Published
2013
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4. Delineation of 15q13.3 microdeletions

Author

Masurel-Paulet, A, Andrieux, J, Callier, P, Cuisset, J M, Le Caignec, C, Holder, M, Thauvin-Robinet, C, Doray, B, Flori, E, Alex-Cordier, M P, Beri, M, Boute, O, Delobel, B, Dieux, A, Vallee, L, Jaillard, S, Odent, S, Isidor, B, Beneteau, C, Vigneron, J, Bilan, F, Gilbert-Dussardier, B, Dubourg, C, Labalme, A, Bidon, C, Gautier, A, Pernes, P, Pinoit, J M, Huet, F, Mugneret, F, Aral, B, Jonveaux, P, Sanlaville, D, and Faivre, L

Published
2010
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5. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author

El Chehadeh, S., primary, Touraine, R., additional, Prieur, F., additional, Reardon, W., additional, Bienvenu, T., additional, Chantot-Bastaraud, S., additional, Doco-Fenzy, M., additional, Landais, E., additional, Philippe, C., additional, Marle, N., additional, Callier, P., additional, Mosca-Boidron, A.-L., additional, Mugneret, F., additional, Le Meur, N., additional, Goldenberg, A., additional, Guerrot, A.-M., additional, Chambon, P., additional, Satre, V., additional, Coutton, C., additional, Jouk, P.-S., additional, Devillard, F., additional, Dieterich, K., additional, Afenjar, A., additional, Burglen, L., additional, Moutard, M.-L., additional, Addor, M.-C., additional, Lebon, S., additional, Martinet, D., additional, Alessandri, J.-L., additional, Doray, B., additional, Miguet, M., additional, Devys, D., additional, Saugier-Veber, P., additional, Drunat, S., additional, Aral, B., additional, Kremer, V., additional, Rondeau, S., additional, Tabet, A.-C., additional, Thevenon, J., additional, Thauvin-Robinet, C., additional, Perreton, N., additional, Des Portes, V., additional, and Faivre, L., additional

Published
2017
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6. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author

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., and Jouk, P. ‐ S.

Subjects
X chromosome, GENETIC correlations, PHENOTYPES, SPASTICITY, EPILEPSY
Abstract

Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases. [ABSTRACT FROM AUTHOR]

Published
2017
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7. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study

Author

Marle, N., primary, Martinet, D., additional, Aboura, A., additional, Joly‐Helas, G., additional, Andrieux, J., additional, Flori, E., additional, Puechberty, J., additional, Vialard, F., additional, Sanlaville, D., additional, Fert Ferrer, S., additional, Bourrouillou, G., additional, Tabet, A.C., additional, Quilichini, B., additional, Simon‐Bouy, B., additional, Bazin, A., additional, Becker, M., additional, Stora, H., additional, Amblard, S., additional, Doco‐Fenzy, M., additional, Molina Gomes, D., additional, Girard‐Lemaire, F., additional, Cordier, M.P., additional, Satre, V., additional, Schneider, A., additional, Lemeur, N., additional, Chambon, P., additional, Jacquemont, S., additional, Fellmann, F., additional, Vigouroux‐Castera, A., additional, Molignier, R., additional, Delaye, A., additional, Pipiras, E., additional, Liquier, A., additional, Rousseau, T., additional, Mosca, A.L., additional, Kremer, V., additional, Payet, M., additional, Rangon, C., additional, Mugneret, F., additional, Aho, S., additional, Faivre, L., additional, and Callier, P., additional

Published
2013
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8. What can we learn from old microdeletion syndromes using array-CGH screening?

Author

Mosca-Boidron, A L, primary, Bouquillon, S, additional, Faivre, L, additional, Callier, P, additional, Andrieux, J, additional, Marle, N, additional, Bonnet, C, additional, Vincent-Delorme, C, additional, Berri, M, additional, Plessis, G, additional, Manouvrier-Hanu, S, additional, Dieux-Coeslier, A, additional, Thauvin-Robinet, C, additional, Pipiras, E, additional, Delahaye, A, additional, Payet, M, additional, Ragon, C, additional, Masurel-Paulet, A, additional, Questiaux, E, additional, Benzacken, B, additional, Jonveaux, P, additional, Mugneret, F, additional, and Holder-Espinasse, M, additional

Published
2011
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