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2,208 results on '"Fryns, J.-P."'

315. Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

Author

Debeer, Philippe, primary, Peeters, H., additional, Driess, S., additional, De Smet, L., additional, Freese, K., additional, Matthijs, G., additional, Bornholdt, D., additional, Devriendt, K., additional, Grzeschik, K.‐H., additional, Fryns, J.‐P., additional, and Kalff‐Suske, M., additional

Published
2003
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316. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease

Author

Nelen, M.R., Staveren, W.C.G. van, Peeters, E.A.J., Ben Hassel, M., Gorlin, R.J., Hamm, H., Lindboe, C.F., Fryns, J.-P., Sijmons, R.H., Woods, D.G., Mariman, E.C.M., Padberg, G.W., Kremer, H., Nelen, M.R., Staveren, W.C.G. van, Peeters, E.A.J., Ben Hassel, M., Gorlin, R.J., Hamm, H., Lindboe, C.F., Fryns, J.-P., Sijmons, R.H., Woods, D.G., Mariman, E.C.M., Padberg, G.W., and Kremer, H.

Abstract

Contains fulltext : 25911___.PDF (publisher's version ) (Open Access)

Published
1997

318. Quality guidelines and standards for genetic laboratories/clinics in prenatal diagnosis on fetal samples obtained by invasive procedures : An attempt to establish a common European framework for quality assessment

Author

Metaxotou, C., Genuardi, M., Piombo, G., Schneider, F., Smeets, D., Ouweland, A. van den, Pacheco, P., Correia, H., Binkert, F., Gabarrón, J., Gallano, P., Kristoffersson, U., Anvret, M., Howell, R., Stenhouse, S., Kroisel, P.M., Fryns, J.-P., Matthijs, G., Brøndum-Nielsen, K., Vejerslev, L., Koskull, H. van, Giraudon, E., Saura, R., Held, K., Müller-Reible, C.R., Metaxotou, C., Genuardi, M., Piombo, G., Schneider, F., Smeets, D., Ouweland, A. van den, Pacheco, P., Correia, H., Binkert, F., Gabarrón, J., Gallano, P., Kristoffersson, U., Anvret, M., Howell, R., Stenhouse, S., Kroisel, P.M., Fryns, J.-P., Matthijs, G., Brøndum-Nielsen, K., Vejerslev, L., Koskull, H. van, Giraudon, E., Saura, R., Held, K., and Müller-Reible, C.R.

Abstract

Contains fulltext : 24731___.PDF (publisher's version ) (Open Access)

Published
1997

345. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, and Kalscheuer, V M

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/−mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016
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