Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH von Rio, M, Royer, G, Gobin, S, de Blois, MC, Ozilou, C, Bernheim, A, Nizon, M, Munnich, A, Bonnefont, J-P, Romana, S, Vekemans, M, Turleau, C, Malan, V

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Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome von De Leersnyder, Hélène, de Blois, Marie-Christine, Claustrat, Bruno, Romana, Serge, Albrecht, Urs, von Kleist-Retzow, Jürgen-Christoph, Delobel, Bruno, Viot, Géraldine, Lyonnet, Stanislas, Vekemans, Michel, Munnich, Arnold

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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype von Faivre, L, Cormier-Daire, V, Lapierre, J M, Colleaux, L, Jacquemont, S, Geneviéve, D, Saunier, P, Munnich, A, Turleau, C, Romana, S, Prieur, M, De Blois, M C, Vekemans, M

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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? von Cormier-Daire, V, Molinari, F, Rio, M, Raoul, O, de Blois, M-C, Romana, S, Vekemans, M, Munnich, A, Colleaux, L

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Functional disomy of the Xq28 chromosome region von SANLAVILLE, Damien, PRIEUR, Marguerite, CORMIER-DAIRE, Valerie, BAUJAT, Genevieve, ROMANA, Serge, VEKEMANS, Michel, TURLEAU, Catherine, DE BLOIS, Marie-Christine, GENEVIEVE, David, LAPIERRE, Jean-Michel, OZILOU, Catherine, PICQ, Monique, GOSSET, Philippe, MORICHON-DELVALLEZ, Nicole, MUNNICH, Arnold

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beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome von De Leersnyder, H, de Blois, M C, Vekemans, M, Sidi, D, Villain, E, Kindermans, C, Munnich, A

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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation von Rio, M, Molinari, F, Heuertz, S, Ozilou, C, Gosset, P, Raoul, O, Cormier-Daire, V, Amiel, J, Lyonnet, S, Le Merrer, M, Turleau, C, de Blois, M-C, Prieur, M, Romana, S, Vekemans, M, Munnich, A, Colleaux, L

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PMX2B, a new candidate gene for Hirschsprung's disease von Benailly, HK, Lapierre, JM, Laudier, B, Amiel, J, Attié, T, De Blois, MC, Vekemans, M, Romana, SP

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Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature von Faivre, Laurence, Gosset, Philippe, Cormier-Daire, Valérie, Odent, Sylvie, Amiel, Jeanne, Giurgea, Irina, Nassogne, Marie-Cécile, Pasquier, Laurent, Munnich, Arnold, Romana, Serge, Prieur, Marguerite, Vekemans, Michel, De Blois, Marie-Christine, Turleau, Catherine

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Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene von Malan, V, De Blois, MC, Prieur, M, Perrier-Waill, MC, Huguet-Nedjar, C, Gegas, L, Turleau, C, Vekemans, M, Munnich, A, Romana, SP

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Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome von Sanlaville, Damien, Genevieve, David, Bernardin, Céline, Amiel, Jeanne, Baumann, Clarisse, de Blois, Marie-Christine, Cormier-Daire, Valérie, Gerard, Bénédicte, Gerard, Marion, Le Merrer, Martine, Parent, Philippe, Prieur, Fabienne, Prieur, Marguerite, Raoul, Odile, Toutain, Annick, Verloes, Alain, Viot, Géraldine, Romana, Serge, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Turleau, Catherine

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Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype von Joly, G, Lapierre, J-M, Ozilou, C, Gosset, P, Aurias, A, De Blois, M-C, Prieur, M, Raoul, O, Colleaux, L, Munnich, A, Romana, SP, Vekemans, M, Turleau, C

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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation von Colleaux, L, Rio, M, Heuertz, S, Moindrault, S, Turleau, C, Ozilou, C, Gosset, P, Raoult, O, Lyonnet, S, Cormier-Daire, V, Amiel, J, Le Merrer, M, Picq, M, de Blois, M C, Prieur, M, Romana, S, Cornelis, F, Vekemans, M, Munnich, A

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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases von Morleo, Manuela, Pramparo, Tiziano, Perone, Lucia, Gregato, Giuliana, Caignec, Cedric Le, Mueller, Robert F., Ogata, Tsutomu, Raas-Rothschild, Annick, de Blois, Marie Christine, Wilson, Louise C., Zaidman, Gerald, Zuffardi, Orsetta, Ballabio, Andrea, Franco, Brunella

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Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome von Genevieve, D., Cormier‐Daire, V., Sanlaville, D., Faivre, L., Gosset, P., Allart, L., Picq, M., Munnich, A., Romana, S., de Blois, Mc, Vekemans, M.

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Werner mesomelic dysplasia with Hirschsprung disease von Goldenberg, Alice, Milh, Mathieu, de Lagausie, Pascal, Mesnage, Renaud, Benarif, Fatiha, De Blois, Marie‐Christine, Munnich, Arnold, Lyonnet, Stanislas, Cormier‐Daire, Valérie

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Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation von Borck, G, Rio, M, Sanlaville, D, Redon, R, Molinari, F, Bacq, D, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Merrer, M Le, De Blois, M-C, Prieur, M, Vekemans, M, Carter, NP, Munnich, A, Colleaux, L

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Ebstein anomaly associated with rearrangements of chromosomal region 11q von de Lonlay-Debeney, Pascale, de Blois, Marie-Christine, Bonnet, Damien, Amiel, Jeanne, Abadie, Véronique, Picq, Monique, Lyonnet, Stanislas, Sidi, Daniel, Munnich, Arnold, Vekemans, Michel, Cormier-Daire, Valérie

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Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report von Holder-Espinasse, M, de Blois, M C, Faivre, L, Romana, S, Uteza, Y, Munnich, A, Lyonnet, S, Cormier-Daire, V, Amiel, J

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Pure partial trisomy of the short arm of chromosome 5 von RETHORE, M. O, DE BLOIS, M. C, PEETERS, M, POPOWSKI, P, PANGALOS, C, LEJEUNE, J

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