The contribution of 7q33 copy number variations for intellectual disability
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10048-017-0533-5/fulltext.html
Reference47 articles.
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2. Malmgren H, Malm G, Sahlén S, Karlsson M, Blennow E (2005) Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): deletion/duplication of 7q33-34 and clinical correlations. Am J Med Genet A 139(1):25–31. https://doi.org/10.1002/ajmg.a.30983
3. Yue Y, Grossmann B, Holder SE, Haaf T (2005) De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Hum Genet 117(1):1–8. https://doi.org/10.1007/s00439-005-1273-4
4. Mitchell S, Siegel DH, Shieh JTC, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P (2012) Candidate locus analysis for PHACE syndrome. Am J Med Genet A 158A(6):1363–1367. https://doi.org/10.1002/ajmg.a.35341
5. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O (2008) A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 51(6):631–638. https://doi.org/10.1016/j.ejmg.2008.06.010
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1. Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia;Frontiers in Genetics;2019-09-18
2. Genomic imbalances defining novel intellectual disability associated loci;Orphanet Journal of Rare Diseases;2019-07-05
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