Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus
Kuentz, P., Fraitag, S., Gonzales, M., Dhombres, F., St‐Onge, J., Duffourd, Y., Joyé, N., Jouannic, J.‐M., Picard, A., Marle, N., Thevenon, J., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
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.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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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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Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
Mosca, A. L., Pinson, L., Andrieux, J., Copin, H., Bigi, N., Puechberty, J., Sarda, P., Receveur, A., Sevestre, H., Pigeonnat, S., Marle, N., Payet, M., Ragon, C., Rousseau, T., Thauvin-Robinet, C., Masurel-Paulet, A., Schneider, A., Laurent, N., Sagot, P., Mugneret, F., Lefort, G., Faivre, L., Callier, P.
Published in Prenatal diagnosis (01.09.2011)
Published in Prenatal diagnosis (01.09.2011)
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What can we learn from old microdeletion syndromes using array-CGH screening?
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
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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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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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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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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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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Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
Callier, P., Faivre, L., Pigeonnat, S., Quilichini, B., Marle, N., Thauvin-Robinet, C., Mosca, A. L., Masurel-Paulet, A., Rousseau, T., Sagot, P., Laurent, N., Mugneret, F.
Published in Prenatal diagnosis (01.10.2009)
Published in Prenatal diagnosis (01.10.2009)
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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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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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Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization
Callier, P., Faivre, L., Marle, N., Thauvin‐Robinet, C., Sanlaville, D., Gosset, P., Prieur, M., Labenne, M., Huet, F., Mugneret, F.
Published in American journal of medical genetics. Part A (01.09.2006)
Published in American journal of medical genetics. Part A (01.09.2006)
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Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
Callier, P., Faivre, L., Cusin, V., Marle, N., Thauvin‐Robinet, C., Sandre, D., Rousseau, T., Sagot, P., Lacombe, E., Faber, V., Mugneret, F.
Published in American journal of medical genetics. Part A (30.08.2005)
Published in American journal of medical genetics. Part A (30.08.2005)
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Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
Thauvin-Robinet, C., Callier, P., Laurent, N., Rousseau, T., Masurel-Paulet, A., Marle, N., Huet, F., Sagot, P., Faivre, L., Mugneret, F.
Published in Prenatal diagnosis (01.06.2007)
Published in Prenatal diagnosis (01.06.2007)
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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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Usefulness of simultaneous detection of toxin A and glutamate dehydrogenase for the diagnosis of Clostridium difficile-associated diseases
BARBUT, F, LALANDE, V, DAPREY, G, COHEN, P, MARLE, N, BURGHOFFER, B, PETIT, J. C
Published in European journal of clinical microbiology & infectious diseases (01.06.2000)
Published in European journal of clinical microbiology & infectious diseases (01.06.2000)
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Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements
Girard, F., Jaillard, S., Keren, B., Lespinasse, J., Marle, N., Masurel, A., Mathieu, M., Metay, C., Portnoi, M., Prieur, F., Rio, M., Siffroi, J., Schluth-Bolard, C., Sanlaville, D., Chatron, N., Diguet, F., Rollat-Farnier, P., Uguen, K., Zillhardt, J. Lauer, Sorlin, A., Andrieux, J., Chantot-Bastaraud, S., Callier, P., Cordier, M., Dubourg, C.
Published in European journal of human genetics : EJHG (2019)
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Published in European journal of human genetics : EJHG (2019)
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
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.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
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
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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