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Results: 1 to 20 of 335

1.

An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction.

Oliver TR, Middlebrooks CD, Tinker SW, Allen EG, Bean LJ, Begum F, Feingold E, Chowdhury R, Cheung V, Sherman SL.

PLoS One. 2014 Jun 13;9(6):e99560. doi: 10.1371/journal.pone.0099560. eCollection 2014.

PMID:
24926858
[PubMed - in process]
Free PMC Article
2.

Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.

Buterbaugh A, Mroczkowski HJ, Shankar SP, Visootsak J.

Ann Paediatr Rheumatol. 2013 Apr 1;2(4):165-167.

PMID:
24839582
[PubMed]
Free PMC Article
3.

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.

Starbuck JM, Dutka T, Ratliff TS, Reeves RH, Richtsmeier JT.

Am J Med Genet A. 2014 Aug;164A(8):1981-90. doi: 10.1002/ajmg.a.36594. Epub 2014 May 1.

PMID:
24788405
[PubMed - in process]
Free PMC Article
4.

Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype.

McAllister JM, Modi B, Miller BA, Biegler J, Bruggeman R, Legro RS, Strauss JF 3rd.

Proc Natl Acad Sci U S A. 2014 Apr 15;111(15):E1519-27. doi: 10.1073/pnas.1400574111. Epub 2014 Mar 31.

PMID:
24706793
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A Case of False Negative NIPT for Down Syndrome-Lessons Learned.

Smith M, Lewis KM, Holmes A, Visootsak J.

Case Rep Genet. 2014;2014:823504. doi: 10.1155/2014/823504. Epub 2014 Feb 4.

PMID:
24649382
[PubMed]
Free PMC Article
6.

Poor Sleep as a Precursor to Cognitive Decline in Down Syndrome : A Hypothesis.

Fernandez F, Edgin JO.

J Alzheimers Dis Parkinsonism. 2013 Aug 26;3(2):124.

PMID:
24558640
[PubMed]
Free PMC Article
7.

Perceptual factors influence visual search for meaningful symbols in individuals with intellectual disabilities and Down syndrome or autism spectrum disorders.

Wilkinson KM, McIlvane WJ.

Am J Intellect Dev Disabil. 2013 Sep;118(5):353-64. doi: 10.1352/1944-7558-118.5.353.

PMID:
24245729
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Abnormal brain synchrony in Down Syndrome.

Anderson JS, Nielsen JA, Ferguson MA, Burback MC, Cox ET, Dai L, Gerig G, Edgin JO, Korenberg JR.

Neuroimage Clin. 2013 May 24;2:703-15. doi: 10.1016/j.nicl.2013.05.006. eCollection 2013.

PMID:
24179822
[PubMed]
Free PMC Article
9.

Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment.

Gutierrez-Castellanos N, Winkelman BH, Tolosa-Rodriguez L, Devenney B, Reeves RH, De Zeeuw CI.

J Neurosci. 2013 Sep 25;33(39):15408-13. doi: 10.1523/JNEUROSCI.2198-13.2013.

PMID:
24068809
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Twist1 controls lung vascular permeability and endotoxin-induced pulmonary edema by altering Tie2 expression.

Mammoto T, Jiang E, Jiang A, Lu Y, Juan AM, Chen J, Mammoto A.

PLoS One. 2013 Sep 2;8(9):e73407. doi: 10.1371/journal.pone.0073407. eCollection 2013.

PMID:
24023872
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model.

Das I, Park JM, Shin JH, Jeon SK, Lorenzi H, Linden DJ, Worley PF, Reeves RH.

Sci Transl Med. 2013 Sep 4;5(201):201ra120. doi: 10.1126/scitranslmed.3005983.

PMID:
24005160
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Germline mosaicism does not explain the maternal age effect on trisomy.

Rowsey R, Kashevarova A, Murdoch B, Dickenson C, Woodruff T, Cheng E, Hunt P, Hassold T.

Am J Med Genet A. 2013 Oct;161A(10):2495-503. doi: 10.1002/ajmg.a.36120. Epub 2013 Aug 15.

PMID:
23950106
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Long-term impact of parental well-being on adult outcomes and dementia status in individuals with Down syndrome.

Esbensen AJ, Mailick MR, Silverman W.

Am J Intellect Dev Disabil. 2013 Jul;118(4):294-309. doi: 10.1352/1944-7558-118.4.294.

PMID:
23937371
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome.

Martin GE, Losh M, Estigarribia B, Sideris J, Roberts J.

Int J Lang Commun Disord. 2013 Jul-Aug;48(4):432-43. doi: 10.1111/1460-6984.12019. Epub 2013 Apr 19.

PMID:
23889838
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Translating dosage compensation to trisomy 21.

Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, Carone DM, Carone BR, Shivak DA, Guschin DY, Pearl JR, Rebar EJ, Byron M, Gregory PD, Brown CJ, Urnov FD, Hall LL, Lawrence JB.

Nature. 2013 Aug 15;500(7462):296-300. doi: 10.1038/nature12394. Epub 2013 Jul 17.

PMID:
23863942
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Differences in Social Vulnerability among Individuals with Autism Spectrum Disorder, Williams Syndrome, and Down Syndrome.

Fisher MH, Moskowitz AL, Hodapp RM.

Res Autism Spectr Disord. 2013 Aug 1;7(8):931-937.

PMID:
23745132
[PubMed]
Free PMC Article
17.

Circuit level defects in the developing neocortex of Fragile X mice.

Gonçalves JT, Anstey JE, Golshani P, Portera-Cailliau C.

Nat Neurosci. 2013 Jul;16(7):903-9. doi: 10.1038/nn.3415. Epub 2013 Jun 2.

PMID:
23727819
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Deficits in human trisomy 21 iPSCs and neurons.

Weick JP, Held DL, Bonadurer GF 3rd, Doers ME, Liu Y, Maguire C, Clark A, Knackert JA, Molinarolo K, Musser M, Yao L, Yin Y, Lu J, Zhang X, Zhang SC, Bhattacharyya A.

Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9962-7. doi: 10.1073/pnas.1216575110. Epub 2013 May 28.

PMID:
23716668
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S.

PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013.

PMID:
23671607
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Exosomes derived from HIV-1-infected cells contain trans-activation response element RNA.

Narayanan A, Iordanskiy S, Das R, Van Duyne R, Santos S, Jaworski E, Guendel I, Sampey G, Dalby E, Iglesias-Ussel M, Popratiloff A, Hakami R, Kehn-Hall K, Young M, Subra C, Gilbert C, Bailey C, Romerio F, Kashanchi F.

J Biol Chem. 2013 Jul 5;288(27):20014-33. doi: 10.1074/jbc.M112.438895. Epub 2013 May 9.

PMID:
23661700
[PubMed - indexed for MEDLINE]
Free PMC Article

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