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Year | Number of Results |
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2012 | 1 |
2013 | 3 |
2024 | 0 |
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Page 1
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Eur J Hum Genet. 2013 Mar;21(3):343-6. doi: 10.1038/ejhg.2012.157. Epub 2012 Aug 8.
Eur J Hum Genet. 2013.
PMID: 22872102
Free PMC article.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA.
Beunders G, et al.
Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.
Am J Hum Genet. 2013.
PMID: 23332918
Free PMC article.
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De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.
Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S.
Jolley A, et al.
Am J Med Genet A. 2013 Jun;161A(6):1508-12. doi: 10.1002/ajmg.a.35922. Epub 2013 May 6.
Am J Med Genet A. 2013.
PMID: 23650183
Review.
No abstract available.
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