Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri‐du‐chat syndrome
Mosca, A.L., Callier, P., Leheup, B., Marle, N., Jalloul, M., Coffinet, L., Feillet, F., Valduga, M., Jonveaux, P., Mugneret, F.
Published in American journal of medical genetics. Part A (15.06.2007)
Published in American journal of medical genetics. Part A (15.06.2007)
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Journal Article
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
Callier, P, Faivre, L, Marle, N, Thauvin-Robinet, C, Mosca, A.L, Masurel-Paulet, A, Borgnon, J, Falcon-Eicher, S, Danino, A, Malka, G, Le Merrer, M, Huet, F, Mugneret, F
Published in European journal of medical genetics (01.11.2007)
Published in European journal of medical genetics (01.11.2007)
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Journal Article
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
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., Callier, P.
Published in Clinical genetics (01.03.2014)
Published in Clinical genetics (01.03.2014)
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Journal Article
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
Callier, P., Faivre, L., Thauvin-Robinet, C., Marle, N., Mosca, A.L., D'Athis, P., Guy, J., Masurel-Paulet, A., Joly, L., Guiraud, S., Teyssier, J.R., Huet, F., Mugneret, F.
Published in American journal of medical genetics. Part A (15.08.2008)
Published in American journal of medical genetics. Part A (15.08.2008)
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Journal Article
Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome
Mosca, A.L., Callier, P., Masurel-Paulet, A., Thauvin-Robinet, C., Marle, N., Nouchy, M., Huet, F., Dipanda, D., De Paepe, A., Coucke, P., Mugneret, F., Faivre, L.
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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Journal Article
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
Mosca, A.L., Callier, P., Faivre, L., Laurent, N., Rousseau, T., Marle, N., Payet, M., Guy, H., Couvreur, S., Masurel-Paulet, A., Sagot, P., Thauvin-Robinet, C., Mugneret, F.
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Journal Article
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
Mosca, A.L., Callier, P., Faivre, L., Marle, N., Mejean, N., Thauvin‐Robinet, C., Masurel‐Paulet, A., Madinier, N., Durand, C., Couillaud, G., Ragot, S., Huet, F., Teyssier, J.R., Mugneret, F.
Published in American journal of medical genetics. Part A (01.03.2009)
Published in American journal of medical genetics. Part A (01.03.2009)
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Journal Article
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
Callier, P., Faivre, L., Marle, N., Thauvin-Robinet, C., Guy, J., Mosca, A.L., D'Athis, P., Masurel-Paulet, A., Assous, D., Teyssier, J.R., Huet, F., Mugneret, F.
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Journal Article
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
Mosca, A.L., Callier, P., Leheup, B., Marle, N., Jalloul, M., Coffinet, L., Feillet, F., Valduga, M., Jonveaux, P., Mugneret, F.
Published in American Journal of Medical Genetics Part A (15.06.2007)
Published in American Journal of Medical Genetics Part A (15.06.2007)
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Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
Mosca, A.L., Callier, P., Faivre, L., Marle, N., Mejean, N., Thauvin-Robinet, C., Masurel-Paulet, A., Madinier, N., Durand, C., Couillaud, G., Ragot, S., Huet, F., Teyssier, J.R., Mugneret, F.
Published in American Journal of Medical Genetics Part A (01.03.2009)
Published in American Journal of Medical Genetics Part A (01.03.2009)
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