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1:

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart.

Mao R, Wang X, Spitznagel EL Jr, Frelin LP, Ting JC, Ding H, Kim JW, Ruczinski I, Downey TJ, Pevsner J.

Genome Biol. 2005;6(13):R107. Epub 2005 Dec 16.

PMID: 16420667 [PubMed - indexed for MEDLINE]

2:

Specific transcriptional changes in human fetuses with autosomal trisomies.

Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O.

Cytogenet Genome Res. 2007;119(3-4):171-84. Epub 2008 Feb 1.

PMID: 18253026 [PubMed - indexed for MEDLINE]

3:

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes.

Aït Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, Rossier J, Personnaz L, Creau N, Bléhaut H, Robin S, Delabar JM, Potier MC.

Am J Hum Genet. 2007 Sep;81(3):475-91. Epub 2007 Jul 19.

PMID: 17701894 [PubMed - indexed for MEDLINE]

4:

Gene expression profiling in the adult Down syndrome brain.

Lockstone HE, Harris LW, Swatton JE, Wayland MT, Holland AJ, Bahn S.

Genomics. 2007 Dec;90(6):647-60. Epub 2007 Oct 22.

PMID: 17950572 [PubMed - indexed for MEDLINE]

5:

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain.

Mao R, Zielke CL, Zielke HR, Pevsner J.

Genomics. 2003 May;81(5):457-67.

PMID: 12706104 [PubMed - indexed for MEDLINE]

6:

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

Amano K, Sago H, Uchikawa C, Suzuki T, Kotliarova SE, Nukina N, Epstein CJ, Yamakawa K.

Hum Mol Genet. 2004 Jul 1;13(13):1333-40. Epub 2004 May 11.

PMID: 15138197 [PubMed - indexed for MEDLINE]

7:

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy.

Conti A, Fabbrini F, D'Agostino P, Negri R, Greco D, Genesio R, D'Armiento M, Olla C, Paladini D, Zannini M, Nitsch L.

BMC Genomics. 2007 Aug 7;8:268.

PMID: 17683628 [PubMed - indexed for MEDLINE]

8:

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

Dauphinot L, Lyle R, Rivals I, Dang MT, Moldrich RX, Golfier G, Ettwiller L, Toyama K, Rossier J, Personnaz L, Antonarakis SE, Epstein CJ, Sinet PM, Potier MC.

Hum Mol Genet. 2005 Feb 1;14(3):373-84. Epub 2004 Dec 8.

PMID: 15590701 [PubMed - indexed for MEDLINE]

9:

Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms.

Rachidi M, Lopes C.

Neurosci Res. 2007 Dec;59(4):349-69. Epub 2007 Aug 15. Review.

PMID: 17897742 [PubMed - indexed for MEDLINE]

10:

Human chromosome 21 gene expression atlas in the mouse.

Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A.

Nature. 2002 Dec 5;420(6915):582-6.

PMID: 12466854 [PubMed - indexed for MEDLINE]

11:

Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes.

Vacík T, Ort M, Gregorová S, Strnad P, Blatny R, Conte N, Bradley A, Bures J, Forejt J.

Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4500-5. Epub 2005 Mar 8.

PMID: 15755806 [PubMed - indexed for MEDLINE]

12:

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.

Fuentes JJ, Pritchard MA, Planas AM, Bosch A, Ferrer I, Estivill X.

Hum Mol Genet. 1995 Oct;4(10):1935-44.

PMID: 8595418 [PubMed - indexed for MEDLINE]

13:

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.

Esposito G, Imitola J, Lu J, De Filippis D, Scuderi C, Ganesh VS, Folkerth R, Hecht J, Shin S, Iuvone T, Chesnut J, Steardo L, Sheen V.

Hum Mol Genet. 2008 Feb 1;17(3):440-57. Epub 2007 Nov 5.

PMID: 17984171 [PubMed - indexed for MEDLINE]

14:

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome.

Kahlem P, Sultan M, Herwig R, Steinfath M, Balzereit D, Eppens B, Saran NG, Pletcher MT, South ST, Stetten G, Lehrach H, Reeves RH, Yaspo ML.

Genome Res. 2004 Jul;14(7):1258-67.

PMID: 15231742 [PubMed - indexed for MEDLINE]

15:

Transcriptional disruptions in Down syndrome: a case study in the Ts1Cje mouse cerebellum during post-natal development.

Potier MC, Rivals I, Mercier G, Ettwiller L, Moldrich RX, Laffaire J, Personnaz L, Rossier J, Dauphinot L.

J Neurochem. 2006 Apr;97 Suppl 1:104-9.

PMID: 16635258 [PubMed - indexed for MEDLINE]

16:

C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.

Rachidi M, Lopes C, Delezoide AL, Delabar JM.

Cytogenet Genome Res. 2006;112(1-2):16-22. Erratum in: Cytogenet Genome Res. 2006;112(3-4):226.

PMID: 16276086 [PubMed - indexed for MEDLINE]

17:

Evidence against the current hypothesis of "gene dosage effects" of trisomy 21: ets-2, encoded on chromosome 21" is not overexpressed in hearts of patients with Down Syndrome.

Greber-Platzer S, Schatzmann-Turhani D, Wollenek G, Lubec G.

Biochem Biophys Res Commun. 1999 Jan 19;254(2):395-9.

PMID: 9918849 [PubMed - indexed for MEDLINE]

18:

Identification of dysregulated genes in lymphocytes from children with Down syndrome.

Sommer CA, Pavarino-Bertelli EC, Goloni-Bertollo EM, Henrique-Silva F.

Genome. 2008 Jan;51(1):19-29.

PMID: 18356936 [PubMed - indexed for MEDLINE]

19:

Altered gene expression in fetal Down syndrome brain as revealed by the gene hunting technique of subtractive hybridization.

Kitzmueller E, Labudova O, Rink H, Cairns N, Lubec G.

J Neural Transm Suppl. 1999;57:99-124.

PMID: 10666671 [PubMed - indexed for MEDLINE]

20:

Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part I).

Cheon MS, Kim SH, Yaspo ML, Blasi F, Aoki Y, Melen K, Lubec G.

Amino Acids. 2003;24(1-2):111-7.

PMID: 12624742 [PubMed - indexed for MEDLINE]

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