Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?
Vuillaume, M.‐L., Moizard, M.‐P., Hammouche, E., Delrue, M.‐A., Perrin, L., Maftei, C., Dupont, C., Drunat, S., Cottereau, E., Baumann, C., Toutain, A.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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Journal Article
Phenotype and genotype in females with POU3F4 mutations
Marlin, S, Moizard, MP, David, A, Chaissang, N, Raynaud, M, Jonard, L, Feldmann, D, Loundon, N, Denoyelle, F, Toutain, A
Published in Clinical genetics (01.12.2009)
Published in Clinical genetics (01.12.2009)
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Journal Article
Twenty-five novel mutations including duplications in the ATP7A gene
Moizard, M-P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Journal Article
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain
Published in American journal of human genetics (01.03.2004)
Published in American journal of human genetics (01.03.2004)
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Journal Article
Twenty‐five novel mutations including duplications in the ATP7A gene
Moizard, M‐P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Journal Article
A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family
Ronce, Nathalie, Moizard, Marie-Pierre, Robb, Laura, Toutain, Annick, Villard, Laurent, Moraine, Claude
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
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Journal Article
FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
Bellan, Cristina, des Portes, Vincent, Lewis, Sarah E, Yntema, Helger G, Muscettola, Maddalena, Fryns, Jean-Pierre, Schaffer, Jean E, Longo, Ilaria, Raynaud, Martine, Moizard, Marie-Pierre, Volpi, Nila, Meloni, Ilaria, Magi, Barbara, Gomot, Marie, Chelly, Jamel, Ropers, Hans-Hilger, Bruttini, Mirella, Renieri, Alessandra
Published in Nature genetics (01.04.2002)
Published in Nature genetics (01.04.2002)
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Journal Article
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region
Gendrot, C, Ronce, N, Toutain, A, Moizard, M P, Müh, J P, Raynaud, M, Dourlens, J, Briault, S, Moraine, C
Published in Clinical genetics (01.03.1994)
Published in Clinical genetics (01.03.1994)
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Journal Article
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family
Ronce, N, Raynaud, M, Toutain, A, Moizard, M P, Colleaux, L, Gendrot, C, Briault, S, Moraine, C
Published in American journal of medical genetics (12.03.1999)
Published in American journal of medical genetics (12.03.1999)
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Journal Article
Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families
Raynaud, M, Moizard, M P, Dessay, B, Briault, S, Toutain, A, Gendrot, C, Ronce, N, Moraine, C
Published in European journal of human genetics : EJHG (01.04.2000)
Published in European journal of human genetics : EJHG (01.04.2000)
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Journal Article
Phenotype and genotype in females with PO U3F4 mutations
MARLIN, S, MOIZARD, M. P, DAVID, A, CHAISSANG, N, RAYNAUD, M, JONARD, L, FELDMANN, D, LOUNDON, N, DENOYELLE, F, TOUTAIN, A
Published in Clinical genetics (2009)
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Published in Clinical genetics (2009)
Journal Article
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1
Raynaud, M, Gendrot, C, Dessay, B, Moncla, A, Ayrault, A D, Moizard, M P, Toutain, A, Briault, S, Villard, L, Ronce, N, Moraine, C
Published in American journal of medical genetics (12.07.1996)
Published in American journal of medical genetics (12.07.1996)
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Journal Article
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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In-frame deletion in MECP2 causes mild nonspecific mental retardation
Yntema, Helger G, Oudakker, Astrid R, Kleefstra, Tjitske, Hamel, Ben C J, van Bokhoven, Hans, Chelly, Jamel, Kalscheuer, Vera M, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Moraine, Claude
Published in American journal of medical genetics (01.01.2002)
Published in American journal of medical genetics (01.01.2002)
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Journal Article
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]
Dessay, Sabine, Moizard, Marie Pierre, Gilardi, Jean Louis, Opitz, John M, Middleton-Price, Helen, Pembrey, Marcus, Moraine, Claude, Briault, Sylvain
Published in American journal of medical genetics (15.09.2002)
Published in American journal of medical genetics (15.09.2002)
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Journal Article
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment
Gomot, Marie, Ronce, Nathalie, Dessay, Sabine, Zemni, Ramzi, Ayrault, Anne-Dominique, Moizard, Marie-Pierre, Nivelon, Annie, Gilgenkrantz, Simone, Dourlens, Julliette, Des Portes, Vincent, Chelly, Jamel, Moraine, Claude
Published in American journal of medical genetics (01.11.2002)
Published in American journal of medical genetics (01.11.2002)
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