Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
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
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
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
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
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.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
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Journal Article
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Coron, F., Rousseau, T., Jondeau, G., Gautier, E., Binquet, C., Gouya, L., Cusin, V., Odent, S., Dulac, Y., Plauchu, H., Collignon, P., Delrue, M.-A., Leheup, B., Joly, L., Huet, F., Thevenon, J., Mace, G., Cassini, C., Thauvin-Robinet, C., Wolf, J. E., Hanna, N., Sagot, P., Boileau, C., Faivre, L.
Published in Prenatal diagnosis (01.12.2012)
Published in Prenatal diagnosis (01.12.2012)
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Journal Article
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Coupry, I, Roudaut, C, Stef, M, Delrue, M-A, Marche, M, Burgelin, I, Taine, L, Cruaud, C, Lacombe, D, Arveiler, B
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Journal Article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
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
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Journal Article
Costello syndrome and neurological abnormalities
Delrue, Marie‐Ange, Chateil, Jean‐François, Arveiler, Benoit, Lacombe, Didier
Published in American journal of medical genetics. Part A (15.12.2003)
Published in American journal of medical genetics. Part A (15.12.2003)
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Journal Article
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., High, Frances A.
Published in American journal of human genetics (05.10.2023)
Published in American journal of human genetics (05.10.2023)
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Journal Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
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
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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Journal Article
Renal development / Cystic diseases
Yosypiv, I., Song, R., Preston, G., Van Eerde, A. M., Van Binsbergen, E., Konijnenberg, Y., Maiburg, M. C., Lichtenbelt, K., Nikkels, P. G. J., Vd Smagt, J., Renkema, K. Y., Giltay, J. C., De Jong, T. P. V. M., Lilien, M. R., Knoers, N. V. A. M., Gueydan, C., Serena, G., Stephan, G., Koesters, R., Zeineb, B., Laure, D., Catherine, A., Marie-Therese, B., Gauguier, D., Lelongt, B., Moon, S. H., Park, H. C., Lee, H.-Y., Hwang, J. H., Jeong, J. C., Park, J.-Y., Lee, S. W., Hwang, Y.-H., Kang, K. W., Ahn, C., Gattone, V., Carr, A., Crosler-Roberts, R., Wang, X., Liu, Y., Shen, J., Wuthrich, R., Serra, A., Mei, C., Tuta, L., Botea, F., Guigonis, V., Rodier, N., Bahans, C., Decramer, S., Bertholet-Thomas, A., Heidet, L., Eckart, P., Lavocat, M.-P., Vrillon, I., Cloarec, S., Lahoche, A., Bessenay, L., Louillet, F., Roussey, G., Rousset-Riviere, C., Dunand, O., Baudouin, V., Nobili, F., Pietrement, C., De Parscau, L., Gajdos, V., Morin, D., Laffargue, F., Llanas, B., Palcoux, J.-B., Delrue, M.-A., Dizier, E., Taupiac, E., Laroche, C., Lacombe, B., Bourthoumieu, S., El-Meanawy, A., Rufanova, V., Stelloh, C.
Published in Nephrology, dialysis, transplantation (01.05.2012)
Published in Nephrology, dialysis, transplantation (01.05.2012)
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Journal Article
Costello syndrome: clinical aspects and tumor risk
Delrue, M A, Arveiler, B, Lacombe, D
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
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Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
Journal Article
Syndrome de Costello : aspects cliniques et risque tumoral
Delrue, M.-A, Arveiler, B, Lacombe, D
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
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Journal Article
Costello syndrome: clinical aspects and tumor risk
Delrue, M A, Arveiler, B, Lacombe, D
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
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Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2002)
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