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Down syndrome AND (genetic OR genomic) AND review - PubMed - NCBI

Down syndrome AND (genetic OR genomic) AND review - PubMed - NCBI

a family with a Down Syndrome child

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Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J.
Rocz Panstw Zakl Hig. 2015;66(3):189-94. Review.

PMID:
 
26400113
 
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2.
Genomic determinants in the phenotypic variability of Down syndrome.
Letourneau A, Antonarakis SE.
Prog Brain Res. 2012;197:15-28. doi: 10.1016/B978-0-444-54299-1.00002-9. Review.

PMID:
 
22541286
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3.
[Trisomy 21: fifty years between medicine and science].
Turleau C, Vekemans M.
Med Sci (Paris). 2010 Mar;26(3):267-72. doi: 10.1051/medsci/2010263267. Review. French.

PMID:
 
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4.
[Locomotion and posture disabilities in Down syndrome].
Haim A, Lahav A, Pritsch T, Drexler M, Yizhar Z.
Harefuah. 2009 Aug;148(8):543-7, 570. Review. Hebrew.

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5.
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C.
Am J Med Genet A. 2015 Jan;167A(1):26-39. doi: 10.1002/ajmg.a.36861. Epub 2014 Nov 20. Review.

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6.
The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
Davidsson J.
Epigenomics. 2014 Feb;6(1):45-58. doi: 10.2217/epi.13.78. Review.

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7.
Gene therapy for Down syndrome.
Fillat C, Altafaj X.
Prog Brain Res. 2012;197:237-47. doi: 10.1016/B978-0-444-54299-1.00012-1. Review.

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8.
[Present status and future perspective of prenatal diagnosis in Japan].
Saito N.
Fukuoka Igaku Zasshi. 2013 Oct;104(10):326-33. Review. Japanese. No abstract available.

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9.
[Abnormal hematopoiesis in Down syndrome].
Ito E.
Rinsho Ketsueki. 2014 Oct;55(10):1738-47. Review. Japanese. No abstract available.

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Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.
Briggs JA, Mason EA, Ovchinnikov DA, Wells CA, Wolvetang EJ.
Stem Cells Transl Med. 2013 Mar;2(3):175-84. doi: 10.5966/sctm.2012-0117. Epub 2013 Feb 14. Review.

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11.
Unraveling the complexity of neurodegeneration in brains of subjects with Down syndrome: insights from proteomics.
Perluigi M, Di Domenico F, Buttterfield DA.
Proteomics Clin Appl. 2014 Feb;8(1-2):73-85. Review.

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12.
[Frontiers of the human genome project: complete sequencing of the chromosomes 22 and 21].
Shimizu N.
Tanpakushitsu Kakusan Koso. 2000 Oct;45(14):2432-40. Review. Japanese. No abstract available.

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Redox proteomics analysis to decipher the neurobiology of Alzheimer-like neurodegeneration: overlaps in Down's syndrome and Alzheimer's disease brain.
Butterfield DA, Di Domenico F, Swomley AM, Head E, Perluigi M.
Biochem J. 2014 Oct 15;463(2):177-89. doi: 10.1042/BJ20140772. Review.

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Achalasia and Down syndrome: a unique association not to be missed.
Viegelmann G, Low Y, Sriram B, Chu HP.
Singapore Med J. 2014 Jul;55(7):e107-8. doi: 10.11622/smedj.2013260.

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Genetic and environmental vulnerabilities in children with neurodevelopmental disorders.
Karmiloff-Smith A, D'Souza D, Dekker TM, Van Herwegen J, Xu F, Rodic M, Ansari D.
Proc Natl Acad Sci U S A. 2012 Oct 16;109 Suppl 2:17261-5. doi: 10.1073/pnas.1121087109. Epub 2012 Oct 8. Review.

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Down syndrome: searching for the genetic culprits.
Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL.
Dis Model Mech. 2011 Sep;4(5):586-95. doi: 10.1242/dmm.008078. Review.

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Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.
Mahadevaiah G, Gupta M, Ashwath R.
Tex Heart Inst J. 2015 Oct 1;42(5):458-61. doi: 10.14503/THIJ-14-4256. eCollection 2015 Oct. Review.

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Oxidative stress and Down syndrome. Do antioxidants play a role in therapy?
Muchová J, Žitňanová I, Ďuračková Z.
Physiol Res. 2014;63(5):535-42. Epub 2014 Jun 5. Review.

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[Down-Turner syndrome (45,X/47,XY,+21): case report and review].
Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA.
Korean J Lab Med. 2010 Apr;30(2):195-200. doi: 10.3343/kjlm.2010.30.2.195. Review. Korean.

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Molecular and cellular mechanisms elucidating neurocognitive basis of functional impairments associated with intellectual disability in Down syndrome.
Rachidi M, Lopes C.
Am J Intellect Dev Disabil. 2010 Mar;115(2):83-112. doi: 10.1352/1944-7558-115.2.83. Review.

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