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Items: 1 to 20 of 84

1.

Intracerebral haemorrhage in Down syndrome: protected or predisposed?

Buss L, Fisher E, Hardy J, Nizetic D, Groet J, Pulford L, Strydom A.

F1000Res. 2016 May 12;5. pii: F1000 Faculty Rev-876. doi: 10.12688/f1000research.7819.1. eCollection 2016. Review.

2.

The importance of understanding individual differences in Down syndrome.

Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Massand E, Mok K, Startin C, Fisher E, Hardy J, Nizetic D, Tybulewicz V, Strydom A.

F1000Res. 2016 Mar 23;5. pii: F1000 Faculty Rev-389. doi: 10.12688/f1000research.7506.1. eCollection 2016. Review.

3.

Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer's Dementia in Down Syndrome: Multi-Faceted Roles of APP.

Nizetic D, Chen CL, Hong W, Koo EH.

Front Behav Neurosci. 2015 Dec 1;9:299. doi: 10.3389/fnbeh.2015.00299. eCollection 2015.

4.

Behavioural and psychological symptoms of dementia in Down syndrome: Early indicators of clinical Alzheimer's disease?

Dekker AD, Strydom A, Coppus AM, Nizetic D, Vermeiren Y, Naudé PJ, Van Dam D, Potier MC, Fortea J, De Deyn PP.

Cortex. 2015 Dec;73:36-61. doi: 10.1016/j.cortex.2015.07.032. Epub 2015 Aug 13. Review.

PMID:
26343344
5.

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE.

PLoS One. 2015 Aug 28;10(8):e0135555. doi: 10.1371/journal.pone.0135555. eCollection 2015.

6.

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Wiseman FK, Al-Janabi T, Hardy J, Karmiloff-Smith A, Nizetic D, Tybulewicz VL, Fisher EM, Strydom A.

Nat Rev Neurosci. 2015 Sep;16(9):564-74. doi: 10.1038/nrn3983. Epub 2015 Aug 5. Review.

7.

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.

Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D.

Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968.

8.

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J, Giarin E, Basso G, Nizetic D, Antonarakis SE.

Nat Commun. 2014 Aug 8;5:4654. doi: 10.1038/ncomms5654.

9.

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE.

Blood. 2013 Jul 25;122(4):554-61. doi: 10.1182/blood-2013-03-491936. Epub 2013 Jun 3.

10.

Tumorigenesis in Down's syndrome: big lessons from a small chromosome.

Nižetić D, Groet J.

Nat Rev Cancer. 2012 Oct;12(10):721-32. doi: 10.1038/nrc3355. Epub 2012 Sep 21. Review.

PMID:
22996602
11.

Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2.

Canzonetta C, Hoischen A, Giarin E, Basso G, Veltman JA, Nacheva E, Nizetic D, Groet J.

Br J Haematol. 2012 Apr;157(2):197-200. doi: 10.1111/j.1365-2141.2011.08985.x. Epub 2012 Jan 5.

PMID:
22221250
12.

Genome gains at chromosome 21q21/22 segment leads to co-amplification of Down Syndrome Critical Regions and known oncogenes in a case of donor cell-derived acute myeloid leukaemia following allogeneic sex mismatched umbilical cord blood transplantation for chronic myeloid leukaemia.

Castleton AZ, Brazma D, Howard-Reeves J, Chanalaris A, Glanville J, Nizetic D, Chakraverty R, Nacheva EP.

Br J Haematol. 2010 Nov;151(3):285-8. doi: 10.1111/j.1365-2141.2010.08350.x. Epub 2010 Aug 25. No abstract available.

PMID:
20738299
13.

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.

De Vita S, Canzonetta C, Mulligan C, Delom F, Groet J, Baldo C, Vanes L, Dagna-Bricarelli F, Hoischen A, Veltman J, Fisher EM, Tybulewicz VL, Nizetic D.

Oncogene. 2010 Nov 18;29(46):6102-14. doi: 10.1038/onc.2010.351. Epub 2010 Aug 9.

14.

Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.

Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S, Rodriguez-Manzaneque JC, Martino-Echarri E, Aurrand-Lions M, Sheer D, Dagna-Bricarelli F, Nizetic D, McCabe CJ, Turnell AS, Kermorgant S, Imhof BA, Adams R, Fisher EM, Tybulewicz VL, Hart IR, Hodivala-Dilke KM.

Nature. 2010 Jun 10;465(7299):813-7. doi: 10.1038/nature09106. Erratum in: Nature. 2010 Jul 15;466(7304):398.

15.

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion.

Rougemont AL, Makrythanasis P, Finci V, Billieux MH, Epiney M, McKee TA, Nizetic D, Fokstuen S.

Pediatr Dev Pathol. 2010 Sep-Oct;13(5):423-6. doi: 10.2350/09-11-0743-CR.1. Epub 2010 Apr 29.

PMID:
20429643
16.

Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome.

Alford KA, Slender A, Vanes L, Li Z, Fisher EM, Nizetic D, Orkin SH, Roberts I, Tybulewicz VL.

Blood. 2010 Apr 8;115(14):2928-37. doi: 10.1182/blood-2009-06-227629. Epub 2010 Feb 12.

17.

Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix.

Delom F, Burt E, Hoischen A, Veltman J, Groet J, Cotter FE, Nizetic D.

Proteome Sci. 2009 Aug 28;7:31. doi: 10.1186/1477-5956-7-31.

18.

Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.

Wang Y, Mulligan C, Denyer G, Delom F, Dagna-Bricarelli F, Tybulewicz VL, Fisher EM, Griffiths WJ, Nizetic D, Groet J.

Mol Cell Proteomics. 2009 Apr;8(4):585-95. doi: 10.1074/mcp.M800256-MCP200. Epub 2008 Nov 10.

19.

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D.

Am J Hum Genet. 2008 Sep;83(3):388-400. doi: 10.1016/j.ajhg.2008.08.012. Epub 2008 Sep 4.

20.

Megakaryocyte hyperproliferation without GATA1 mutation in foetal liver of a case of Down syndrome with hydrops foetalis.

De Vita S, Devoy A, Groet J, Kruslin B, Kuzmić-Prusac I, Nizetić D.

Br J Haematol. 2008 Oct;143(2):300-3. doi: 10.1111/j.1365-2141.2008.07332.x. Epub 2008 Aug 10. No abstract available.

PMID:
18699852

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