Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 104

1.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR.

Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13.

PMID:
19597142
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE.

Eur J Hum Genet. 2009 Apr;17(4):454-66. doi: 10.1038/ejhg.2008.214. Epub 2008 Nov 12.

PMID:
19002211
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Papoulidis I, Papageorgiou E, Siomou E, Oikonomidou E, Thomaidis L, Vetro A, Zuffardi O, Liehr T, Manolakos E, Vassilis P.

Gene. 2014 Feb 25;536(2):441-3. doi: 10.1016/j.gene.2013.11.078. Epub 2013 Dec 13.

PMID:
24334122
[PubMed - indexed for MEDLINE]
4.

Down syndrome phenotypes: the consequences of chromosomal imbalance.

Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, et al.

Proc Natl Acad Sci U S A. 1994 May 24;91(11):4997-5001.

PMID:
8197171
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.

Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X.

Hum Genet. 1996 Oct;98(4):460-6.

PMID:
8792823
[PubMed - indexed for MEDLINE]
6.

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.

Liu C, Morishima M, Jiang X, Yu T, Meng K, Ray D, Pao A, Ye P, Parmacek MS, Yu YE.

Hum Genet. 2014 Jun;133(6):743-53. doi: 10.1007/s00439-013-1407-z. Epub 2013 Dec 22.

PMID:
24362460
[PubMed - indexed for MEDLINE]
7.

A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.

Ohira M, Ichikawa H, Suzuki E, Iwaki M, Suzuki K, Saito-Ohara F, Ikeuchi T, Chumakov I, Tanahashi H, Tashiro K, Sakaki Y.

Genomics. 1996 Apr 1;33(1):65-74.

PMID:
8617511
[PubMed - indexed for MEDLINE]
8.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

PMID:
23783273
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Molecular genetic analysis of Down syndrome.

Patterson D.

Hum Genet. 2009 Jul;126(1):195-214. doi: 10.1007/s00439-009-0696-8. Epub 2009 Jun 13. Review.

PMID:
19526251
[PubMed - indexed for MEDLINE]
10.

A new mouse model for Down syndrome.

Kazuki Y, Schulz TC, Shinohara T, Kadota M, Nishigaki R, Inoue T, Kimura M, Kai Y, Abe S, Shirayoshi Y, Oshimura M.

J Neural Transm Suppl. 2003;(67):1-20. Review.

PMID:
15068235
[PubMed - indexed for MEDLINE]
11.

Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice.

Yu T, Liu C, Belichenko P, Clapcote SJ, Li S, Pao A, Kleschevnikov A, Bechard AR, Asrar S, Chen R, Fan N, Zhou Z, Jia Z, Chen C, Roder JC, Liu B, Baldini A, Mobley WC, Yu YE.

Brain Res. 2010 Dec 17;1366:162-71. doi: 10.1016/j.brainres.2010.09.107. Epub 2010 Oct 26.

PMID:
20932954
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse.

Dunlevy L, Bennett M, Slender A, Lana-Elola E, Tybulewicz VL, Fisher EM, Mohun T.

Cardiovasc Res. 2010 Nov 1;88(2):287-95. doi: 10.1093/cvr/cvq193. Epub 2010 Jun 16.

PMID:
20558441
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Trisomy 21 and Down syndrome: a short review.

Sommer C, Henrique-Silva F.

Braz J Biol. 2008 May;68(2):447-52. Review.

PMID:
18660978
[PubMed - indexed for MEDLINE]
Free Article
14.

Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome.

Dowjat WK, Adayev T, Kuchna I, Nowicki K, Palminiello S, Hwang YW, Wegiel J.

Neurosci Lett. 2007 Feb 8;413(1):77-81. Epub 2006 Dec 4.

PMID:
17145134
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N.

Am J Med Genet A. 2006 Feb 1;140(3):227-32.

PMID:
16411203
[PubMed - indexed for MEDLINE]
16.

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.

Pereira PL, Magnol L, Sahún I, Brault V, Duchon A, Prandini P, Gruart A, Bizot JC, Chadefaux-Vekemans B, Deutsch S, Trovero F, Delgado-García JM, Antonarakis SE, Dierssen M, Herault Y.

Hum Mol Genet. 2009 Dec 15;18(24):4756-69. doi: 10.1093/hmg/ddp438. Epub 2009 Sep 26.

PMID:
19783846
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

Olson LE, Richtsmeier JT, Leszl J, Reeves RH.

Science. 2004 Oct 22;306(5696):687-90.

PMID:
15499018
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome.

Duchon A, Pothion S, Brault V, Sharp AJ, Tybulewicz VL, Fisher EM, Herault Y.

Behav Brain Res. 2011 Mar 1;217(2):271-81. doi: 10.1016/j.bbr.2010.10.023. Epub 2010 Oct 31.

PMID:
21047530
[PubMed - indexed for MEDLINE]
Free PMC Article
19.
20.

On the cause of mental retardation in Down syndrome: extrapolation from full and segmental trisomy 16 mouse models.

Galdzicki Z, Siarey R, Pearce R, Stoll J, Rapoport SI.

Brain Res Brain Res Rev. 2001 Apr;35(2):115-45. Review.

PMID:
11336779
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk