Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.
Published in Scientific reports (06.07.2022)
Published in Scientific reports (06.07.2022)
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Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case
Carré, Aurore, Szinnai, Gabor, Castanet, Mireille, Sura-Trueba, Sylvia, Tron, Elodie, Broutin-L’Hermite, Isabelle, Barat, Pascal, Goizet, Cyril, Lacombe, Didier, Moutard, Marie-Laure, Raybaud, Christine, Raynaud-Ravni, Catherine, Romana, Serge, Ythier, Hubert, Léger, Juliane, Polak, Michel
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
Prudhomme, L., Delleci, C., Trimouille, A., Chateil, J.F., Prodhomme, O., Goizet, C., Van Gils, J.
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schöls, L., Sequeiros, J., Goizet, C., Marelli, C., Le Ber, I., Koht, J., Gazulla, J., De Bleecker, J., Mukhtar, M., Drouot, N., Ali-Pacha, L., Benhassine, T., Chbicheb, M., M’Zahem, A., Hamri, A., Chabrol, B., Pouget, J., Murphy, R., Watanabe, M., Coutinho, P., Tazir, M., Durr, A., Brice, A., Tranchant, C., Koenig, M.
Published in Brain (London, England : 1878) (01.10.2009)
Published in Brain (London, England : 1878) (01.10.2009)
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Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
Legrand, A., Pujol, C., Durand, C. M., Mesnil, A., Rubera, I., Duranton, C., Zuily, S., Sousa, A. B., Renaud, M., Boucher, J. L., Pietrancosta, N., Adham, S., Orssaud, C., Marelli, C., Casali, C., Ziccardi, L., Villain, N., Ewenczyk, C., Durr, A., Mignot, C., Stevanin, G., Billon, C., Hureaux, M., Jeunemaitre, X., Goizet, C., Albuisson, J.
Published in Journal of internal medicine (01.05.2021)
Published in Journal of internal medicine (01.05.2021)
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
Lerat, J., Magdelaine, C., Lunati, A., Dzugan, H., Dejoie, C., Rego, M., Beze Beyrie, P., Bieth, E., Calvas, P., Cintas, P., Delaubrier, A., Demurger, F., Gilbert-Dussardier, B., Goizet, C., Journel, H., Laffargue, F., Magy, L., Taithe, F., Toutain, A., Urtizberea, J.A., Sturtz, F., Lia, A.S.
Published in Journal of the neurological sciences (15.11.2019)
Published in Journal of the neurological sciences (15.11.2019)
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Fetal phenotypes in otopalatodigital spectrum disorders
Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M.P., Delezoide, A.L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., Fergelot, P.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
Labauge, Pierre, Horzinski, Laetitia, Ayrignac, Xavier, Blanc, Pierre, Vukusic, Sandra, Rodriguez, Diana, Mauguiere, Francois, Peter, Laure, Goizet, Cyril, Bouhour, Francoise, Denier, Christian, Confavreux, Christian, Obadia, Michael, Blanc, Frederic, Sèze, Jérome de, Fogli, Anne, Boespflug-Tanguy, Odile
Published in Brain (London, England : 1878) (01.08.2009)
Published in Brain (London, England : 1878) (01.08.2009)
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Efficacy and safety of propranolol for epistaxis in hereditary haemorrhagic telangiectasia: retrospective, then prospective study, in a total of 21 patients
Contis, A., Gensous, N., Viallard, J.F., Goizet, C., Léauté‐Labrèze, C., Duffau, P.
Published in Clinical otolaryngology (01.08.2017)
Published in Clinical otolaryngology (01.08.2017)
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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
Goizet, Cyril, Boukhris, Amir, Durr, Alexandra, Beetz, Christian, Truchetto, Jeremy, Tesson, Christelle, Tsaousidou, Maria, Forlani, Sylvie, Guyant-Maréchal, Lucie, Fontaine, Bertrand, Guimarães, João, Isidor, Bertrand, Chazouillères, Olivier, Wendum, Dominique, Grid, Djamel, Chevy, Françoise, Chinnery, Patrick F., Coutinho, Paula, Azulay, Jean-Philippe, Feki, Imed, Mochel, Fanny, Wolf, Claude, Mhiri, Chokri, Crosby, Andrew, Brice, Alexis, Stevanin, Giovanni
Published in Brain (London, England : 1878) (01.06.2009)
Published in Brain (London, England : 1878) (01.06.2009)
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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
Lesca, Gaëtan, Olivieri, Carla, Burnichon, Nelly, Pagella, Fabio, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Roume, Joelle, Rabilloud, Muriel, Saurin, Jean-Christophe, Cottin, Vincent, Honnorat, Jerome, Coulet, Florence, Giraud, Sophie, Calender, Alain, Danesino, Cesare, Buscarini, Elisabetta, Plauchu, Henri
Published in Genetics in medicine (01.01.2007)
Published in Genetics in medicine (01.01.2007)
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Classifications of neurogenetic diseases: An increasingly complex problem
Vallat, J.-M., Goizet, C., Tazir, M., Couratier, P., Magy, L., Mathis, S.
Published in Revue neurologique (01.06.2016)
Published in Revue neurologique (01.06.2016)
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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Goizet, C, Boukhris, A, Maltete, D, Guyant-Maréchal, L, Truchetto, J, Mundwiller, E, Hanein, S, Jonveaux, P, Roelens, F, Loureiro, J, Godet, E, Forlani, S, Melki, J, Auer-Grumbach, M, Fernandez, J C, Martin-Hardy, P, Sibon, I, Sole, G, Orignac, I, Mhiri, C, Coutinho, P, Durr, A, Brice, A, Stevanin, G
Published in Neurology (06.10.2009)
Published in Neurology (06.10.2009)
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S
Published in Journal of medical genetics (01.10.2005)
Published in Journal of medical genetics (01.10.2005)
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Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity
Boukhris, A, Stevanin, G, Feki, I, Denora, P, Elleuch, N, Miladi, MI, Goizet, C, Truchetto, J, Belal, S, Brice, A, Mhiri, C
Published in Clinical genetics (01.06.2009)
Published in Clinical genetics (01.06.2009)
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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
Namekawa, M, Ribai, P, Nelson, I, Forlani, S, Fellmann, F, Goizet, C, Depienne, C, Stevanin, G, Ruberg, M, Dürr, A, Brice, A
Published in Neurology (10.01.2006)
Published in Neurology (10.01.2006)
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