Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome
Villéga, F, Ngayap, H, Espil-Taris, C, Husson, M, Rooryck-Thambo, C, Arveiler, B, Lacombe, D, Pédespan, J-M
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2011)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2011)
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Polymorphisme d’expression de l’atteinte épileptique et cognitive du syndrome du chromosome 20 en anneau
Villéga, F., Ngayap, H., Espil-Taris, C., Husson, M., Rooryck-Thambo, C., Arveiler, B., Lacombe, D., Pédespan, J.-M.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2011)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2011)
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P6192Pediatric cardiomyopathies: assessment of genetic causes by next generation sequencing of cardiomyopathy genes and genotype-phenotype correlation
Ader, F, Khraiche, D, Kuster, A, Troadec, Y, Rooryck-Thambo, C, Rambaud, C, Bendrik, N, Bordet, C, Bonnet, D, Charron, P, Richard, P
Published in European heart journal (01.08.2018)
Published in European heart journal (01.08.2018)
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Effects of eight neuropsychiatric copy number variants on human brain structure
Modenato, Claudia, Kumar, Kuldeep, Moreau, Clara, Martin-Brevet, Sandra, Huguet, Guillaume, Schramm, Catherine, Jean-Louis, Martineau, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Douard, Elise, Thébault-Dagher, Fanny, Côté, Valérie, Charlebois, Audrey-Rose, Deguire, Florence, Maillard, Anne M., Rodriguez-Herreros, Borja, Pain, Aurèlie, Richetin, Sonia, Melie-Garcia, Lester, Kushan, Leila, Silva, Ana I., van den Bree, Marianne B. M., Linden, David E. J., Owen, Michael J., Hall, Jeremy, Lippé, Sarah, Chakravarty, Mallar, Bzdok, Danilo, Bearden, Carrie E., Draganski, Bogdan, Jacquemont, Sébastien
Published in Translational psychiatry (20.07.2021)
Published in Translational psychiatry (20.07.2021)
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P6324Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients
Nguyen, K N, Roche, S R, Lavoute, C L, Reant, P R, Donal, E D, Haentjens, J H, Consolino, E C, Odent, S O, Eicher, J C E, Faivre, L F, Rooryck-Thambo, C R T, Charron, P C, Casalta, A C C, Michel, N M, Habib, G
Published in European heart journal (01.08.2018)
Published in European heart journal (01.08.2018)
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
Schluth-Bolard, C., Diguet, F., Rollat-Farnier, P. A., Amiel, J., Belaud-Rotureau, M. A., Benzacken, B., Callier, P., Chatron, N., Collignon, P., Demeer, Bénédicte, Doco-Fenzy, M., Faivre, L., Gilbert-Dussardier, B., Guerrot, A. M., Jaillard, S., Keren, B., Kremer, V., Lacombe, D., Lebbar, A., Le Caignec, C., Lespinasse, J., Malan, V., Mathieu-Dramard, M., Missirian, C., Moncla, A., Odent, S., Pebrel-Richard, C., Paquis, V., Portnoi, M. F., Puechberty, J., Rooryck-Thambo, C., Satre, V., Tabet, A. C., Touraine, R., Toutain, A., Vekemans, M., Verloes, A., Edery, P., Sanlaville, D.
Published in European journal of human genetics : EJHG (2018)
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Published in European journal of human genetics : EJHG (2018)
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Pediatric cardiomyopathies: Assessment of genetic causes by next generation sequencing of cardiomyopathy genes and genotype-phenotype correlation
Ader, F., Khraiche, D., Kuster, A., Troadec, Y., Rooryck-Thambo, C., Rambaud, C., Brehin, A.C., Bordet, C., Bonnet, Damien, Charron, Philippe, Richard, P.
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
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Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity, new gene mutations in a multicenter series of 200 patients
Nguyen, K., Roche, S., Lavoute, C., Reant, P., Donal, Erwan, Haentjens, J., Consolino, E., Odent, S., Habib, G., Eicher, Jean-Christophe, Faivre, L., Rooryck-Thambo, C., Charron, P., Casalta, A.C., Michel, N.
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2019)
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FLNC mutations in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations
Ader, F., De Groote, P., Reant, P., Rooryck-Thambo, C., Dupin Deguine, D., Rambaud, C., Khraiche, D., Perret, C., Pruny, J.F., Mathieu Dramard, M., Gerard, M., Troadec, Y., Gouya, L., Jeunemaitre, X., Van Maldergem, L., Hagège, A., Villard, E., Charron, P., Richard, P.
Published in Archives of Cardiovascular Diseases Supplements (01.04.2019)
Published in Archives of Cardiovascular Diseases Supplements (01.04.2019)
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Étude d’une grande cohorte de patients atteints d’albinisme oculocutané
Lasseaux, E., Morice-Picard, F., Plaisant, C., Moutton, S., Trimouille, A., Deves, S., Rooryck-Thambo, C., Lacombe, D., Taieb, A., Arveiler, B.
Published in Annales de dermatologie et de vénéréologie (01.12.2015)
Published in Annales de dermatologie et de vénéréologie (01.12.2015)
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