Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

Por Winer, N., Kyndt, F., Paumier, A., David, A., Isidor, B., Quentin, M., Jouitteau, B., Sanyas, P., Philippe, H. J., Hernandez, A., Krakow, D., Le Caignec, C.
Publicado em 2009

A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome

Por Holzinger, D, Austermann, J, Lohse, P, Aksentijevich, I, Holland, S, Gattorno, M, Rodríguez-Gallego, C, Fessatou, S, Isidor, B, Tokio, S, Bernstein, J, Sampson, B, Sunderkoetter, C, Roth, J
Publicado em 2011

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Por Dubourg, C., Bonnet-Brilhault, F., Toutain, A., Mignot, C., Jacquette, A., Dieux, A., Gérard, M., Beaumont-Epinette, M.-P., Julia, S., Isidor, B., Rossi, M., Odent, S., Bendavid, C., Barthélémy, C., Verloes, A., David, V.
Publicado em 2014

Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing

Por Sanchez, E, Grandemange, S, Mau-Them, F Tran, Louis-Plence, P, Carbasse, A, Jeziorski, E, Picot, M-C, Girard, M, Tran, TA, Isidor, B, Poignant, S, Tiriau, S, Pillet, P, Jurquet, A-L, Touitou, I, Geneviève, D
Publicado no Pediatr Rheumatol Online J (2015)

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Por Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.
Publicado no Sci Rep (2017)

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Por Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I
Publicado em 2012

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

Por Holzinger, D, Lohse, P, Faßl, S, Austermann, J, Vogl, T, de Jager, W, Holland, S, Gattorno, M, Rodriguez-Gallego, C, Arostegui, J, Fessatou, S, Isidor, B, Ito, K, Epple, H-J, Bernstein, J, Jeng, M, Lionetti, G, Ong, P, Hinze, C, Sampson, B, Sunderkoetter, C, Foell, D, Chae, J, Ombrello, A, Brady, J, Aksentijevich, I, Roth, J
Publicado em 2013

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

Por Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.
Publicado em 2010