Search Results - "Ronce, Nathalie"

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations by Isidor, Bertrand, Lefebvre, Tiphaine, Le Vaillant, Claudine, Caillaud, Gaëlle, Faivre, Laurence, Jossic, Frédéric, Joubert, Madeleine, Winer, Norbert, Le Caignec, Cédric, Borck, Guntram, Pelet, Anna, Amiel, Jeanne, Toutain, Annick, Ronce, Nathalie, Raynaud, Martine, Verloes, Alain, David, Albert

“…We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had…”
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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome by Civit, Antoine, Ronce, Nathalie, Cogné, Benjamin, Besnard, Thomas, Laurenceau, David, Hubert, Catherine, Moizard, Marie‐Pierre, Gueguen, Paul, Toutain, Annick, Vuillaume, Marie‐Laure

“…Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively…”
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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family by 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

“…A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in…”
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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency by Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C.J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain

“…Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation…”
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium by de Brouwer, Arjan P.M., Yntema, Helger G., Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R., de Vries, Bert B.A., van Bokhoven, Hans, Van Esch, Hilde, Frints, Suzanne G.M., Froyen, Guy, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Ronce, Nathalie, Bensalem, Anissa, Moraine, Claude, Poirier, Karine, Castelnau, Laetitia, Saillour, Yoann, Bienvenu, Thierry, Beldjord, Chérif, des Portes, Vincent, Chelly, Jamel, Turner, Gillian, Fullston, Tod, Gecz, Jozef, Kuss, Andreas W., Tzschach, Andreas, Jensen, Lars Riff, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger, Hamel, Ben C.J.

“…The EuroMRX family cohort consists of about 400 families with non‐syndromic and 200 families with syndromic X‐linked mental retardation (XLMR). After exclusion…”
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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation by Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hugues Roest, Carrié, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylvain, Hamel, Ben, Fryns, Jean-Pierre, Beldjord, Cherif, Kahn, Axel, Moraine, Claude, Chelly, Jamel

“…Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or…”
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation by Friocourt, Gaelle, Carrié, Alain, Chafey, Philippe, Brandau, Oliver, Fryns, Jean P, Frints, Suzanna, Ropers, Hans H, Billuart, Pierre, McDonell, Nathalie, Vinet, Marie C, Portes, Vincent des, Cardona, Anna, Moraine, Claude, Fauchereau, Fabien, Couvert, Philippe, Meindl, Alfonse, Ronce, Nathalie, Chelly, Jamel, Beldjord, Cherif, Bokhoven, Han van, Zemni, Ramzi, Sudbrak, Ralf, Francis, Fiona, Sefiani, Aziz, Bienvenu, Thierry, Kahn, Axel

“…X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely to be highly heterogeneous. They can be categorized into syndromic…”
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Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene by Portes, Vincent des, Boddaert, Nathalie, Sacco, Silvia, Briault, Sylvain, Maincent, Kim, Bahi, Nadia, Gomot, Marie, Ronce, Nathalie, Bursztyn, Joseph, Adamsbaum, Catherine, Zilbovicius, Monica, Chelly, Jamel, Moraine, Claude

“…Oligophrenin‐1 (OPHN‐1) gene disruption is known as responsible for so called “non‐specific” X‐linked mental retardation (MR) Billuart et al. [1998: Nature…”
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Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes by Toutain, Annick, Dessay, Benoît, Ronce, Nathalie, Ferrante, Maria-Immacolata, Tranchemontagne, Julie, Newbury-Ecob, Ruth, Wallgren-Pettersson, Carina, Burn, John, Kaplan, Josseline, Rossi, Annick, Russo, Silvia, Walpole, Ian, Hartsfield, James K, Oyen, Nina, Nemeth, Andrea, Bitoun, Pierre, Trump, Dorothy, Moraine, Claude, Franco, Brunella

“…Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, dental abnormalities, dysmorphic features, and mental retardation in…”
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Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families by Raynaud, Martine, Moizard, Marie-Pierre, Dessay, Benoît, Briault, Sylvain, Toutain, Annick, Gendrot, Chantal, Ronce, Nathalie, Moraine, Claude

“…It has been demonstrated in several X-linked disorders, both with and without mental retardation, that the X-inactivation process plays a significant role in…”
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Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families by Raynaud, M, Moizard, M P, Dessay, B, Briault, S, Toutain, A, Gendrot, C, Ronce, N, Moraine, C

“…It has been demonstrated in several X-linked disorders, both with and without mental retardation, that the X-inactivation process plays a significant role in…”
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Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome by RAYNAUD, Martine, DESSAY, Sabine, RONCE, Nathalie, OPITZ, John, PEMBREY, Marcus, ROMANO, Corrado, MORAINE, Claude, BRIAULT, Sylvain

“…Genetic heterogeneity has been demonstrated in FG syndrome. We report a systematic study of the X-inactivation profile of obligate carriers and other females…”
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A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family by Ronce, Nathalie, Moizard, Marie-Pierre, Robb, Laura, Toutain, Annick, Villard, Laurent, Moraine, Claude

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A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family by Ronce, Nathalie, Moizard, Marie‐Pierre, Robb, Laura, Toutain, Annick, Villard, Laurent, Moraine, Claude

“…Abstract only…”
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Nance-Horan syndrome : linkage analysis in 4 families refines localization in XP22.31-p22.13 region by TOUTAIN, A, RONCE, N, DESSAY, B, ROBB, L, FRANCANNET, C, LE MERRER, M, BRIARD, M.-L, KAPLAN, J, MORAINE, C

“…Nance-Horan syndrome (NHS) is an X-linked disease characterized by severe congenital cataract with microcornea, distinctive dental findings, evocative facial…”
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Exclusion of RAI2 as the causative gene for Nance-Horan syndrome by WALPOLE, S. M, RONCE, N, GRAYSON, C, DESSAY, B, YATES, J. R. W, TRUMP, D, TOUTAIN, A

“…Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology,…”
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X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region by Gendrot, C, Ronce, N, Toutain, A, Moizard, M P, Müh, J P, Raynaud, M, Dourlens, J, Briault, S, Moraine, C

“…Gene localization was determined by linkage analysis in a large French family with X-linked mental retardation (MRX). Seven living affected males were…”
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Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family by Ronce, Nathalie, Raynaud, Martine, Toutain, Annick, Moizard, Marie-Pierre, Colleaux, Laurence, Gendrot, Chantal, Briault, Sylvain, Moraine, Claude

“…Linkage analysis was performed in three generations of a French family segregating a syndromal form of X‐linked mental retardation. All affected males had…”
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TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment by 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

“…The TM4SF2 gene (localized at Xp11.4 between the loci DXS564 and DXS556) has been found to be mutated in one MRX family. In order to define the corresponding…”
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X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family by Raynaud, Martine, Ronce, Nathalie, Ayrault, Anne-Dominique, Francannet, Christine, Malpuech, Georges, Moraine, Claude

“…X‐linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not…”
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