Zdroje informací

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. PMID: 24531329; PMCID: PMC3990853.

Fastman J, Kolevzon A. ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges. Children. 2023; 10(3):593. https://doi.org/10.3390/children10030593

Fletcher, Paula C. PhD; Pollock, Stephanie MScOT; Luymes, Nicole PhD; Bryden, Pamela J. PhD. All in the Family: Living With ADNP Syndrome. Clinical Nurse Specialist 36(4):p 214-222, 7/8 2022. | DOI: 10.1097/NUR.0000000000000680

Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Bedrosian-Sermone S. Correction to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation. J Mol Neurosci. 2018 Feb;64(2):331. doi: 10.1007/s12031-018-1028-z. Erratum for: J Mol Neurosci. 2015 Aug;56(4):751-757. doi: 10.1007/s12031-015-0586-6. Sermone, Sandra Bedrosian [corrected to Bedrosian-Sermone, Sandra]. PMID: 29353437.

Arnett, A.B., Rhoads, C.L., Hoekzema, K., Turner, T.N., Gerdts, J., Wallace, A.S., Bedrosian-Sermone, S., Eichler, E.E. and Bernier, R.A. (2018), The autism spectrum phenotype in ADNP syndrome. Autism Research, 11: 1300-1310. https://doi.org/10.1002/aur.1980

Levine, J., Lobyntseva, A., Shazman, S. et al. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males. J Mol Neurosci 74, 15 (2024). https://doi.org/10.1007/s12031-024-02189-4

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S. Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Transl Psychiatry. 2017 Feb 21;7(2):e1043. doi: 10.1038/tp.2017.27. Erratum in: Transl Psychiatry. 2017 Jul 4;7(7):e1166. doi: 10.1038/tp.2017.128. PMID: 28221363; PMCID: PMC5438031.

Van Dijck A, Vandeweyer G, Kooy F. ADNP-Related Disorder. 2016 Apr 7 [Updated 2022 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK355518/

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. PMID: 29724491; PMCID: PMC6139063.

Další zdroje

ADNP syndrom