Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

Autor: den Hoed, J., De Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., McWalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.32-33
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::67c2ce3fabc43ad59477a311ce1a69d5
https://hal.archives-ouvertes.fr/hal-03131485

Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects.

Autor: Newbury, D. F.¹, Paracchini, S.¹, Scerri, T. S.¹, Winchester, L.¹, Addis, L.², Richardson, Alex J.³, Walter, J.⁴, Stein, J. F.⁴, Talcott, J. B.⁵, Monaco, A. P.¹ anthony@well.ox.ac.uk

Publikováno v: Behavior Genetics. Jan2011, Vol. 41 Issue 1, p90-104. 15p. 4 Charts.

Lack of replication for the myosin-18B association with mathematical ability in independent cohorts

Autor: Pettigrew, K. A., Fajutrao Valles, S. F., Moll, K., Northstone, K., Ring, S., Pennell, C., Wang, C., Leavett, R., Hayiou-Thomas, M. E., Thompson, P., Simpson, N. H., Fisher, S. E., Whitehouse, A. J O, Snowling, M. J., Newbury, D. F., Paracchini, S., Nudel, R., Monaco, A. P., Francks, C., Baird, G., Slonims, V., Dworzynski, K., Bolton, P. F., Simonoff, E., O'Hare, A., Seckl, J., Cowie, H., Clark, A., Watson, J., Nasir, J., Cohen, W., Everitt, A., Hennessy, E. R., Shaw, D., Helms, P. J., Simkin, Z., Conti, G., Ramsden, D., Bishop, D. V M, Pickles, A.

Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular level. Recently, a coding variant (rs133885) in the myosin-18B gene was shown to be associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e21fcf510e07074fb271fd3fb7edea4d
https://strathprints.strath.ac.uk/53033/1/Pettigrew_etal_GBB_2015_Lack_of_replication_for_the_myosin_18B_association_with_mathematical.pdf

Genome-wide analysis identifies a role for common copy number variants in specific language impairment

Autor: Simpson N. H., Ceroni F., Reader R. H., Covill L. E., Knight J. C., Hennessy E. R., Bolton P. F., Conti-Ramsden G., O'Hare A., Baird G., Fisher S. E., Newbury D. F., Nudel R., Monaco A. P., Simonoff E., Pickles A., Slonims V., Dworzynski K., Everitt A., Clark A., Watson J., Seckl J., Cowie H., Cohen W., Nasir J., Bishop D. V. M., Simkin Z.

Publikováno v: European Journal of Human Genetics

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d60e84bcb5b946a4c3d402f5d2fc50d
https://pubmed.ncbi.nlm.nih.gov/25585696

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