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• Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype.

  de Smith AJ, Trewick AL, Blakemore AI. de Smith AJ, et al. Hugo J. 2010 Dec;4(1-4):1-9. doi: 10.1007/s11568-010-9144-z. Epub 2010 Aug 10. Hugo J. 2010. PMID: 22132061 Free PMC article.
• Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

  Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL, Ross JL. Zinn AR, et al. Am J Hum Genet. 1998 Dec;63(6):1757-66. doi: 10.1086/302152. Am J Hum Genet. 1998. PMID: 9837829 Free PMC article.
• GnRH replacement rescues cognition in Down syndrome.

  Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V. Manfredi-Lozano M, et al. Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2. Science. 2022. PMID: 36048943 Free PMC article.
• Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes.

  Keck-Wherley J, Grover D, Bhattacharyya S, Xu X, Holman D, Lombardini ED, Verma R, Biswas R, Galdzicki Z. Keck-Wherley J, et al. Dev Neurosci. 2011;33(5):451-67. doi: 10.1159/000330884. Epub 2011 Oct 27. Dev Neurosci. 2011. PMID: 22042248 Free PMC article.
• Overexpressed Down Syndrome Cell Adhesion Molecule (DSCAM) Deregulates P21-Activated Kinase (PAK) Activity in an In Vitro Neuronal Model of Down Syndrome: Consequences on Cell Process Formation and Extension.

  Pérez-Núñez R, Barraza N, Gonzalez-Jamett A, Cárdenas AM, Barnier JV, Caviedes P. Pérez-Núñez R, et al. Neurotox Res. 2016 Jul;30(1):76-87. doi: 10.1007/s12640-016-9613-9. Epub 2016 Mar 10. Neurotox Res. 2016. PMID: 26966010