Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
Cardoso, C, Boys, A, Parrini, E, Mignon-Ravix, C, McMahon, J M, Khantane, S, Bertini, E, Pallesi, E, Missirian, C, Zuffardi, O, Novara, F, Villard, L, Giglio, S, Chabrol, B, Slater, H R, Moncla, A, Scheffer, I E, Guerrini, R
Published in Neurology (03.03.2009)
Published in Neurology (03.03.2009)
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Journal Article
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
Mencarelli, M A, Spanhol-Rosseto, A, Artuso, R, Rondinella, D, De Filippis, R, Bahi-Buisson, N, Nectoux, J, Rubinsztajn, R, Bienvenu, T, Moncla, A, Chabrol, B, Villard, L, Krumina, Z, Armstrong, J, Roche, A, Pineda, M, Gak, E, Mari, F, Ariani, F, Renieri, A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
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Journal Article
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.
Published in Human mutation (01.01.2005)
Published in Human mutation (01.01.2005)
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Journal Article
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
Luciani, J.J, Depetris, D, Usson, Y, Metzler-Guillemain, C, Mignon-Ravix, C, Mitchell, M.J, Megarbane, A, Sarda, P, Sirma, H, Moncla, A, Feunteun, J, Mattei, M.-G
Published in Journal of cell science (15.06.2006)
Published in Journal of cell science (15.06.2006)
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Journal Article
Use of DOP-PCR for amplification and labeling of BAC DNA for FISH
Darouich, S, Popovici, C, Missirian, C, Moncla, A
Published in Biotechnic & histochemistry (01.02.2012)
Published in Biotechnic & histochemistry (01.02.2012)
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Journal Article
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update
Philippe, C., Villard, L., De Roux, N., Raynaud, M., Bonnefond, J.P., Pasquier, L., Lesca, G., Mancini, J., Jonveaux, P., Moncla, A., Chelly, J., Bienvenu, T.
Published in European journal of medical genetics (2006)
Published in European journal of medical genetics (2006)
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Journal Article
Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children
Tauber, M., Barbeau, C., Jouret, B., Pienkowski, C., Malzac, P., Moncla, A., Rochiccioli, P.
Published in Hormone research (01.01.2000)
Published in Hormone research (01.01.2000)
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Journal Article
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
Desmyter, L, Ghassibe, M, Revencu, N, Boute, O, Lees, M, Francois, G, Verellen-Dumoulin, C, Sznajer, Y, Moncla, A, Benateau, H, Claes, K, Devriendt, K, Mathieu, M, Van Maldergem, Lionel, Addor, M. C, Drouin-Garraud, V, Mortier, G, Bouma, M, Dieux-Coeslier, A, Genevieve, D, Goldenberg, A, Gozu, A, Makrythanasis, P, McEntagart, U, Sanchez, A, Vilain, C, Vermeer, S, Connell, F, Verheij, J, Manouvrier, S, Pierquin, Geneviève, Odent, S, Holder-Espinasse, M, Vincent-Delorme, C, Gillerot, Y, Vanwijck, R, Bayet, B, Vikkula, M
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
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Web Resource
Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene
Girardet, A, Moncla, A, Hamamah, S, Claustres, M
Published in Reproductive biomedicine online (01.04.2005)
Published in Reproductive biomedicine online (01.04.2005)
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Journal Article
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Moncla, Anne, Malzac, Perrine, Livet, Marie-Odile, Voelckel, Marie-Antoinette, Mancini, Josette, Delaroziere, Jean Christophe, Philip, Nicole, Mattei, Jean-François
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
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Journal Article
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
KNIGHT, S. J. L, VOELCKEL, M. A, HIRST, M. C, FLANNERY, A. V, MONCLA, A, DAVIES, K. E
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
Journal Article
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation
Philip, N., Colleaux, L., Sigaudy, S., Attié-Bitach, T., Missirian, C., Moncla, A., Mattei, M.G., Bollini, G.
Published in American journal of medical genetics. Part A (01.04.2005)
Published in American journal of medical genetics. Part A (01.04.2005)
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Journal Article
Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect
Mignon, C, Malzac, P, Moncla, A, Depetris, D, Roeckel, N, Croquette, M F, Mattei, M G
Published in European journal of human genetics : EJHG (1996)
Published in European journal of human genetics : EJHG (1996)
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Journal Article
Costello syndrome : report of six patients including one with an embryonal rhabdomyosarcoma
SIGAUDY, S, VITTU, G, DAVID, A, VIGNERON, J, LACOMBE, D, MONCLA, A, FLORI, E, PHILIP, N
Published in European journal of pediatrics (01.03.2000)
Published in European journal of pediatrics (01.03.2000)
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Conference Proceeding
Journal Article
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
Cormier-Daire, V, Belin, V, Cusin, V, Viot, G, Girlich, D, Toutain, A, Moncla, A, Vekemans, M, Merrer, M Le, Munnich, A
Published in Acta Paediatrica (01.12.1999)
Published in Acta Paediatrica (01.12.1999)
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Journal Article
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases
Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Published in Journal of medical genetics (01.09.1991)
Published in Journal of medical genetics (01.09.1991)
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Journal Article
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study
Stavropoulou, C, Mignon, C, Delobel, B, Moncla, A, Depetris, D, Croquette, M F, Mattei, M G
Published in Journal of medical genetics (01.11.1998)
Published in Journal of medical genetics (01.11.1998)
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