Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping

Author:

Lovrečić LucaORCID,Rajar Polona,Volk Marija,Bertok Sara,Gnidovec Stražišar Barbara,Osredkar Damjan,Jekovec Vrhovšek Maja,Peterlin Borut

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference25 articles.

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2. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC (2013) Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 17(6):589–599

3. Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G, IMGSAC ME, Seri M, Romeo G (2014) Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients. EMBO Mol Med 6(6):795–809

4. Cobben JM, Weiss MM, van Dijk FS, De Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG (2014) A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. Eur J Med Genet 57:636–638

5. Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB (2014) Identification of risk genes for autism spectrum disorder trough copy number variations analysis in Austrian families. Neurogenetics 15(2):117–127

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