Search Results - "Delrue, MA"

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus by Jacquemont, Sébastien, Reymond, Alexandre, Walters, Robin G., Kutalik, Zoltán, Valsesia, Armand, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Vries, Bert B. A., Esko, Tõnu, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Frank Kooy, R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Wu, Bai-lin, Yu, Yongguo, Addor, Marie-Claude, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bergmann, Sven, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Brunner, Han G., Cailley, Dorothée, Chrast, Jacqueline, Coutton, Charles, Cuisset, Jean-Marie, de Freminville, Bénédicte, Demeer, Bénédicte, Descamps, Dominique, Disciglio, Vittoria, Doco-Fenzy, Martine, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Faivre, Laurence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Hartikainen, Anna-Liisa, Heron, Délphine, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Legallic, Solenn, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Marshall, Christian, McCarthy, Mark I., Meitinger, Thomas, Merla, Giuseppe, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Plessis, Ghislaine, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Roetzer, Katharina M., Rooryck, Caroline, Schurmann, Claudia, Stavropoulos, Dimitri J., Tengström, Carola, Tinahones, Francisco J., Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Andrieux, Joris, Estivill, Xavier, Gusella, James F., Stefansson, Kari, Beckmann, Jacques S., Froguel, Philippe

“…Genomic balance: underweight as a mirror image of obesity Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated…”
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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause by Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.

“…Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently,…”
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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases by Kerr, B, Delrue, M-A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O’Sullivan, J, De Sandre-Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M’Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G

“…Background: Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the…”
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Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome by Marsaud, Céline, Rossignol, Sylvie, Tounian, Patrick, Netchine, Irène, Dubern, Béatrice

“…Objectives Silver–Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive,…”
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability by 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

“…The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic…”
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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome by Coupry, I, Roudaut, C, Stef, M, Delrue, M-A, Marche, M, Burgelin, I, Taine, L, Cruaud, C, Lacombe, D, Arveiler, B

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Fat chance: genetic syndromes with obesity by Delrue, M-A, Michaud, JL

“…Although obesity shows high heritability, we are aware of only a small number of genes that affect adipose mass in humans. Genetic syndromes with obesity…”
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Costello syndrome and neurological abnormalities by Delrue, Marie‐Ange, Chateil, Jean‐François, Arveiler, Benoit, Lacombe, Didier

“…Costello syndrome is a rare but increasingly recognized syndrome of unknown etiology. Neurological abnormalities are not rare in this syndrome and consist of…”
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Behavioral and temperamental features of children with Costello syndrome by Galéra, Cédric, Delrue, Marie-Ange, Goizet, Cyril, Etchegoyhen, Kattalin, Taupiac, Emmanuelle, Sigaudy, Sabine, Arveiler, Benoît, Philip, Nicole, Bouvard, Manuel, Lacombe, Didier

“…Costello syndrome (CS) is a rare genetic condition due to germline mutations in HRAS proto‐oncogene and characterized by increased birth weight, postnatal…”
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Association of ectrodactyly and distal phocomelia by Delrue, M A, Lacombe, D

“…Ectrodactyly and phocomelia are well known limbs malformations. They can be a part of various syndromes, and are more often transmitted with dominant autosomal…”
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