Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy

Autor: Pal, Deb, Addis, Laura, Ahn, Joo Wook, Dobson, Richard, Dixit, Abhishek, Ogilvie, Caroline, Pinto, Dalila, Vaags, Andrea K., Coon, Hilary, Chaste, Pauline, Wilson, Scott, Parr, Jeremy R., Andrieux, Joris, lenne, bruno, turner, zeynep, leuzzi, vincenzo, aubell, kristina, koillinen, hannele, Curran, Sarah, Marshall, Christian R., Scherer, Stephen W., Strug, Lisa J.

Publikováno v: Pal, D, Addis, L, Ahn, J W, Dobson, R, Dixit, A, Ogilvie, C, Pinto, D, Vaags, A K, Coon, H, Chaste, P, Wilson, S, Parr, J R, Andrieux, J, lenne, B, turner, Z, leuzzi, V, aubell, K, koillinen, H, Curran, S, Marshall, C R, Scherer, S W & Strug, L J 2015, ' Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy ' .

Copy number variations (CNV) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 U.K. individuals with a range of neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::40c3b9de8f3e8e5bccc0a1b86b2d556c
https://kclpure.kcl.ac.uk/portal/en/publications/microdeletions-of-elp4-are-associated-with-language-impairment-autism-spectrum-disorder-and-epilepsy(8d571038-c7c6-4347-b26b-2c289eb3af06).html

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IgD-λ myeloma with extensive free light-chain excretion: a diagnostic pitfall in the identification of monoclonal gammopathies.

Autor: Robier, Christoph, Piribauer, Maria, Beham-Schmid, Christine, Aubell, Kristina, Neubauer, Manfred

Publikováno v: Clinical Chemistry & Laboratory Medicine; Jul2017, Vol. 55 Issue 7, pe137-e139, 3p, 1 Diagram

Ein Fall von Schöpf-Schulz-Passarge-Syndrom verursacht durch eine c.1135C>T WNT10A Missense-Mutation.

Autor: Painsi, Clemens, Aubell, Kristina, Wolf, Peter, Hügel, Rainer, Lange‐Asschenfeldt, Bernhard

Publikováno v: Journal der Deutschen Dermatologischen Gesellschaft; Apr2017, Vol. 15 Issue 4, p454-456, 3p