| 1 | TRI21
|
| Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model
|
| Guedj F, Siegel AE, Pennings JLA, Alsebaa F, Massingham LJ, Tantravahi U, Bianchi DW.
|
| Am J Hum Genet. Nov 5;107(5):911-931. doi: 10.1016/j.ajhg.2020.10.001. Epub 2020 Oct 23. 2020
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| 2 | DYRK1A, TRI21
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| Triple play of DYRK1A kinase in cortical progenitor cells of Trisomy 21
|
| Kurabayashi N, Nguyen MD, Sanada K.
|
| Neurosci Res. Jan;138:19-25. doi: 10.1016/j.neures.2018.09.007. Epub 2018 Sep 15. 2018
|
| 3 | TRI13, TRI18, TRI21
|
| Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009.
|
| Alberman E, Mutton D, Morris JK.
|
| Am J Med Genet A 158A(5):1145-50. doi: 10.1002/ajmg.a.35337. Epub 2012 Apr 11.
2012
|
| 4 | TRI21
|
| Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009.
|
| Morris JK, Alberman E, Mutton D, Jacobs P.
|
| Am J Med Genet A 158A(5):1151-7. doi: 10.1002/ajmg.a.35248. Epub 2012 Mar 21.
2012
|
| 5 | TRI21
|
| Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells.
|
| Maclean GA, Menne TF, Guo G, Sanchez DJ, Park IH, Daley GQ, Orkin SH.
|
| Proc Natl Acad Sci U S A 109(43):17567-72. doi: 10.1073/pnas.1215468109. Epub 2012 Oct 8.
2012
|
| 6 | TRI21
|
| Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21.
|
| Roy A, Cowan G, Mead AJ, Filippi S, Bohn G, Chaidos A, Tunstall O, Chan JK, Choolani M, Bennett P, Kumar S, Atkinson D, Wyatt-Ashmead J, Hu M, Stumpf MP, Goudevenou K, O'Connor D, Chou ST, Weiss MJ, Karadimitris A, Jacobsen SE, Vyas P, Roberts I.
|
| Proc Natl Acad Sci U S A 109(43):17579-84. doi: 10.1073/pnas.1211405109. Epub 2012 Oct 8.
2012
|
| 7 | SYNJ1, TRI21
|
| Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
|
| Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, Duyckaerts C, Di Paolo G, Potier MC.
|
| Hum Mol Genet 21(14):3156-72. doi: 10.1093/hmg/dds142. Epub 2012 Apr 17.
2012
|
| 8 | APP, PTCH1, SHH, TRI21
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| APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome.
|
| Trazzi S, Mitrugno VM, Valli E, Fuchs C, Rizzi S, Guidi S, Perini G, Bartesaghi R, Ciani E.
|
| Hum Mol Genet 20(8):1560-73. Epub 2011 Jan 25.
2011
|
| 9 | TRI13, TRI18, TRI21
|
| Survival of Texas infants born with trisomies 21, 18, and 13.
|
| Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, King T, Noblin SJ, Waller DK, Hecht JT.
|
| Am J Med Genet A 152A(2):360-6.PMID: 20082470 2010
|
| 10 | DUP21QP, TRI21
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| A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome.
|
| Martinoli E, Zuccotti GV, Pogliani L, Volontè M, Venturin M, Fortina P, Ertel A, Redaelli S, Riva P, Dalprà L.
|
| Am J Med Genet A 152A(4):1043-5. No abstract available. PMID: 20358625 2010
|
| 11 | CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
|
| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
|
| Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
|
| J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
|
| 12 | TRI21
|
| Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth.
|
| Ghosh S, Feingold E, Chakraborty S, Dey SK.
|
| Hum Genet um Genet. 2010 Jan 10. [Epub ahead of print]PMID: 20063167 2010
|
| 13 | TRI21
|
| A case of Down syndrome with mirror-image duplication of chromosome 21.
|
| Ha TM, Nguyen VN, Lindor NM, Meyer RG, Rai R, Velagaleti GV.
|
| Am J Med Genet A 152A(6):1580-2. No abstract available. PMID: 20503339 2010
|
| 14 | TRI21
|
| Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin.
|
| Fukushima H, Kosaki K, Sato R, Yagihashi T, Gatayama R, Kodo K, Hayashi T, Nakazawa M, Tsuchihashi T, Maeda J, Kojima Y, Yamagishi H, Takahashi T.
|
| Am J Med Genet A 152A(8):1919-24.PMID: 20583254 2010
|
| 15 | OLIG1, OLIG2, TRI21
|
| Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome.
|
| Chakrabarti L, Best TK, Cramer NP, Carney RS, Isaac JT, Galdzicki Z, Haydar TF.
|
| Nat Neurosci 13(8):927-34. Epub 2010 Jul 18.PMID: 20639873 [ 2010
|
| 16 | TRI21
|
| Mouse models of cognitive disabilities in trisomy 21 (Down syndrome).
|
| Roubertoux PL, Carlier M.
|
| Am J Med Genet C Semin Med Genet 154C(4):400-16.PMID: 20981769 2010
|
| 17 | TRI21
|
| 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 29(46):6102-14. Epub 2010 Aug 9.PMID: 20697343 2010
|
| 18 | DEL21, DEL21Q, DEL21QD, DEL21QT, TRI21
|
| 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 17(4):454-66. Epub 2008 Nov 12. 2009
|
| 19 | TRI21
|
| Down syndrome--recent progress and future prospects.
|
| Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM.
|
| Hum Mol Genet 18(R1):R75-83.
2009
|
| 20 | AMKLDS, KS, MVA1, TRI18, TRI21, TRI8, TS
|
| Constitutional aneuploidy and cancer predisposition.
|
| Ganmore I, Smooha G, Izraeli S.
|
| Hum Mol Genet 18(R1):R84-93. 2009
|
| 21 | DYRK1A, REST, TRI21
|
| DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.
|
| Lepagnol-Bestel AM, Zvara A, Maussion G, Quignon F, Ngimbous B, Ramoz N, Imbeaud S, Loe-Mie Y, Benihoud K, Agier N, Salin PA, Cardona A, Khung-Savatovsky S, Kallunki P, Delabar JM, Puskas LG, Delacroix H, Aggerbeck L, Delezoide AL, Delattre O, Gorwood P, Moalic JM, Simonneau M.
|
| Hum Mol Genet 18(8):1405-1414. 2009
|
| 22 | HSCR, HSCR1, RET, TRI21
|
| Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
|
| Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A.
|
| Hum Mutat 30(5):771-5. 2009
|
| 23 | TRI21
|
| Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations.
|
| Ghosh S, Feingold E, Dey SK.
|
| Am J Med Genet A 149A(7):1415-1420. [Epub ahead of print]
2009
|
| 24 | MTHFR, TRI21
|
| Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
| Brandalize AP, Bandinelli E, Dos Santos PA, Roisenberg I, Schüler-Faccini L.
|
| Am J Med Genet A 149A(10):2080-2087. [Epub ahead of print]
2009
|
| 25 | TRI21
|
| Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic "Down syndrome" mice.
|
| Hill CA, Sussan TE, Reeves RH, Richtsmeier JT.
|
| Am J Med Genet A 149A(10):2158-65.
2009
|
| 26 | TRI21
|
| 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 106(29):12031-6. Epub 2009 Jul 13.
2009
|
| 27 | DUP21QD, TRI21, WDR4
|
| A NEW MOUSE MODEL FOR THE TRISOMY OF THE ABCG1-U2AF1 REGION REVEALS THE COMPLEXITY OF THE COMBINATORIAL GENETIC CODE OF DOWN SYNDROME.
|
| Lopes Pereira P, 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 18(24):4756-69. Epub 2009 Sep 26. 2009
|
| 28 | TRI13, TRI18, TRI21
|
| Recurrence risks for trisomies 13, 18, and 21.
|
| De Souza E, Halliday J, Chan A, Bower C, Morris JK.
|
| Am J Med Genet A m J Med Genet A. 2009 Nov 16. [Epub ahead of print]
2009
|
| 29 | DUP21QD, TRI21
|
| 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 18(24):4756-69. Epub 2009 Sep 26.
2009
|
| 30 | DYRK1A, RCAN1, TRI21
|
| Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.
|
| Rachidi M, Lopes C.
|
| Eur J Paediatr Neurol 12(3):168-82. Epub 2007 Oct 22. Review. 2008
|
| 31 | DYRK1A, REST, TRI21
|
| 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 83(3):388-400. Epub 2008 Sep 4. 2008
|
| 32 | TRI21
|
| Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome.
|
| Sussan TE, Yang A, Li F, Ostrowski MC, Reeves RH.
|
| Nature 451(7174):73-5. 2008
|
| 33 | TRI21
|
| Risk of vascular anomalies with Down syndrome.
|
| Greene AK, Kim S, Rogers GF, Fishman SJ, Olsen BR, Mulliken JB.
|
| Pediatrics 121(1):e135-40. 2008
|
| 34 | TRI21
|
| Acrocentric cryptic translocation associated with nondisjunction of chromosome 21.
|
| Ramos S, Alc‡ntara MA, Molina B, del Castillo V, S‡nchez S, Frias S.
|
| Am J Med Genet A 146(1):97-102. 2008
|
| 35 | TRI21
|
| A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.
|
| Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, Niikawa N, Yoshiura K.
|
| Am J Med Genet A 146(1):124-7. No abstract available. 2008
|
| 36 | TRI21
|
| Down syndrome and the genes of human chromosome 21: current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007.
|
| Pritchard M, Reeves RH, Dierssen M, Patterson D, Gardiner KJ.
|
| Cytogenet Genome Res 121(1):67-77. Epub 2008 May 7. 2008
|
| 37 | MTHFR, TRI21
|
| The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.
|
| Martinez-Frias ML.
|
| Am J Med Genet A 146A(11):1477-82. Review. 2008
|
| 38 | TRI21
|
| Twenty-year trends in prevalence and survival of Down syndrome.
|
| Irving C, Basu A, Richmond S, Burn J, Wren C.
|
| Eur J Hum Genet 16(11):1336-40. Epub 2008 Jul 2.
2008
|
| 39 | TRI21
|
| Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts.
|
| Kuhn DE, Nuovo GJ, Martin MM, Malana GE, Pleister AP, Jiang J, Schmittgen TD, Terry AV Jr, Gardiner K, Head E, Feldman DS, Elton TS.
|
| Biochem Biophys Res Commun 370(3):473-7. Epub 2008 Apr 1.
2008
|
| 40 | DYRK1A, TRI21
|
| Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.
|
| Ortiz-Abalia J, Sahún I, Altafaj X, Andreu N, Estivill X, Dierssen M, Fillat C.
|
| Am J Hum Genet 83(4):479-88. 2008
|
| 41 | DYRK1A, TRI21
|
| 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 413(1):77-81. Epub 2006 Dec 4.
2007
|
| 42 | DYRK1A, TRI21
|
| Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.
|
| Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G.
|
| J Med Genet 44(7):448-51. Epub 2007 Jan 19. 2007
|
| 43 | TRI21
|
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
|
| Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE.
|
| Am J Hum Genet 81(2):252-63. Epub 2007 Jun 20. 2007
|
| 44 | TRI21
|
| Classification of human chromosome 21 gene-expression variations in down syndrome: impact on disease phenotypes.
|
| Ait Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, Rossier J, Personnaz L, Creau N, Blehaut H, Robin S, Delabar JM, Potier MC.
|
| Am J Hum Genet 81(3):475-91. Epub 2007 Jul 19. 2007
|
| 45 | DYRK1A, TRI21
|
| DYRK1A-mediated hyperphosphorylation of Tau. A functional link between Down syndrome and Alzheimer disease.
|
| Ryoo SR, Jeong HK, Radnaabazar C, Yoo JJ, Cho HJ, Lee HW, Kim IS, Cheon YH, Ahn YS, Chung SH, Song WJ.
|
| J Biol Chem 282(48):34850-7. Epub 2007 Sep 28. 2007
|
| 46 | TRI21
|
| Genetic mechanisms involved in the phenotype of Down syndrome.
|
| Patterson D.
|
| Ment Retard Dev Disabil Res Rev 13(3):199-206. Review. 2007
|
| 47 | AGTR1, TRI21
|
| Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
|
| Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE.
|
| Am J Hum Genet 81(2):405-13. Epub 2007 Jul 12. 2007
|
| 48 | TRI21
|
| Part I: clinical practice guidelines for children with Down syndrome from birth to 12 years.
|
| Van Cleve SN, Cohen WI.
|
| J Pediatr Health Care 20(1):47-54. No abstract available. 2006
|
| 49 | RCAN1, DYRK1A, NFATC1, NFATC2, NFATC3, NFATC4, TRI21
|
| NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.
|
| Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR.
|
| Nature 441(7093):595-600. Epub 2006 Mar 22. 2006
|
| 50 | TRI21
|
| Down syndrome: Common otolaryngologic manifestations.
|
| Shott SR.
|
| Am J Med Genet C Semin Med Genet 142C(3):131-140 [Epub ahead of print] 2006
|
| 51 | TRI21
|
| Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto-axial instability.
|
| Cohen WI.
|
| Am J Med Genet C Semin Med Genet 142C(3):141-148 [Epub ahead of print] 2006
|
| 52 | TRI21
|
| Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.
|
| Dixon N, Kishnani PS, Zimmerman S.
|
| Am J Med Genet C Semin Med Genet 142(3):149-57. 2006
|
| 53 | TRI21
|
| Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome.
|
| Capone G, Goyal P, Ares W, Lannigan E.
|
| Am J Med Genet C Semin Med Genet 142C(3):158-172 [Epub ahead of print] 2006
|
| 54 | TRI21
|
| The proteins of human chromosome 21.
|
| Gardiner K, Costa AC.
|
| Am J Med Genet C Semin Med Genet 142(3):196-205. 2006
|
| 55 | RCAN1, DYRK1A, NFAT, TRI21
|
| Down's syndrome: critical genes in a critical region.
|
| Epstein CJ.
|
| Nature 441(7093):582-3. No abstract available. 2006
|
| 56 | TRI21
|
| Understanding the basis for Down syndrome phenotypes.
|
| Roper RJ, Reeves RH.
|
| PLoS Genet 2(3):e50. 2006
|
| 57 | DCR, TRI21
|
| Association between Maternal Age and Meiotic Recombination for Trisomy 21.
|
| Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL.
|
| Am J Hum Genet 76(1):91-9. Epub 2005 Jan. 2005
|
| 58 | TRI21
|
| Down syndrome and genetics - a case of linked histories.
|
| Patterson D, Costa AC.
|
| Nat Rev Genet 6(2):137-47. Review. No abstract available. 2005
|
| 59 | TRI21
|
| An aneuploid mouse strain carrying human chromosome 21 with down syndrome phenotypes.
|
| O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TV, Henderson DJ, Nizetic D, Tybulewicz VL, Fisher EM.
|
| Science 309(5743):2033-7. 2005
|
| 60 | TRI21
|
| Recurrent trisomy 21: four cases in three generations.
|
| Gair JL, Arbour L, Rupps R, Jiang R, Bruyere H, Robinson WP.
|
| Clin Genet 68(5):430-5. 2005
|
| 61 | TRI21
|
| A chromosome 21 critical region does not cause specific Down syndrome phenotypes.
|
| Olson LE, Richtsmeier JT, Leszl J, Reeves RH.
|
| Science 306(5696):687-90. 2004
|
| 62 | AMKLDS, GATA1, TAM, TRI21
|
| Natural history of GATA1 mutations in Down syndrome.
|
| Ahmed M, Sternberg A, Hall G, Thomas A, Smith O, O'Marcaigh A, Wynn R, Stevens R, Addison M, King D, Stewart B, Gibson B, Roberts I, Vyas P.
|
| Blood 103(7):2480-9. Epub 2003 Dec 4.
2004
|
| 63 | AMKLDS, GATA1, TAM, TRI21
|
| Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.
|
| Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S, Dagna-Bricarelli F, Basso G, Cotter FE, Nizetic D.
|
| Lancet 361(9369):1617-20. 2003
|
| 64 | AMKLDS, GATA1, TAM, TRI21
|
| Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome.
|
| Xu G, Nagano M, Kanezaki R, Toki T, Hayashi Y, Taketani T, Taki T, Mitui T, Koike K, Kato K, Imaizumi M, Sekine I, Ikeda Y, Hanada R, Sako M, Kudo K, Kojima S, Ohneda O, Yamamoto M, Ito E.
|
| Blood 102(8):2960-8. Epub 2003 Jun 19. 2003
|
| 65 | TRI21
|
| Down's syndrome.
|
| Roizen NJ, Patterson D.
|
| Lancet 361(9365):1281-9. Review. 2003
|
| 66 | TRI21
|
| Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis.
|
| Mundschau G, Gurbuxani S, Gamis AS, Greene ME, Arceci RJ, Crispino JD.
|
| Blood 101(11):4298-300. Epub 2003 Jan 30. 2003
|
| 67 | AMKLDS, GATA1, TAM, TRI21
|
| Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis.
|
| Mundschau G, Gurbuxani S, Gamis AS, Greene ME, Arceci RJ, Crispino JD.
|
| Blood 101(11):4298-300. Epub 2003 Jan 30.
2003
|
| 68 | REST, TRI21
|
| Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study.
|
| Bahn S, Mimmack M, Ryan M, Caldwell MA, Jauniaux E, Starkey M, Svendsen CN, Emson P.
|
| Lancet 359(9303):310-5.
2002
|
| 69 | TRI13, TRI18, TRI20, TRI21
|
| Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.
|
| Wallerstein R, Yu MT, Neu RL, Benn P, Lee Bowen C, Crandall B, Disteche C, Donahue R, Harrison B, Hershey D, Higgins RR, Jenkins LS, Jackson-Cook C, Keitges E, Khodr G, Lin CC, Luthardt FW, Meisner L, Mengden G, Patil SR, Rodriguez M, Sciorra LJ, Shaffer LG, Stetten G, Van Dyke DL, Wang H.
|
| Prenat Diagn 20(2):103-22. 2000
|
| 70 | DYRK1A, TRI21
|
| Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in down syndrome.
|
| Guimera J, et al.
|
| Genomics 57(3):407-18. 1999
|
| 71 | AML1, TRI21
|
| Subtle structural changes and instability of chromosome 21 in children with Down syndrome and haematological disorders.
|
| Kempski HM, Brady N, Chalker J, Brickell P, Chessells JM.
|
| Cytogenet Cell Genet 86:8 1999
|
| 72 | DYRK1A, TRI21
|
| Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome.
|
| Smith DJ, et al.
|
| Nat Genet 16 : 28-36. 1997
|
| 73 | DYRK1A, TRI21
|
| A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region.
|
| Guimera J, et al.
|
| Hum Mol Genet 5 : 1305-1310. 1996
|
| 74 | TRI21
|
| 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 91(11):4997-5001. 1994
|
| 75 | TRI21
|
| Human chromosome 21: genome mapping and exploration, circa 1993.
|
| Antonarakis SE.
|
| Trends Genet 9(4):142-8. Review. 1993
|
| 76 | PSMG1, TRI21
|
| Molecular mapping of twenty-four features of Down syndrome on chromosome 21.
|
| Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM.
|
| Eur J Hum Genet 1(2):114-24. 1993
|
| 77 | TRI21
|
| Trisomy 21: association between reduced recombination and nondisjunction.
|
| Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, et al.
|
| Am J Hum Genet 49(3):608-20. 1991
|
| 78 | TRI21
|
| Chromosomal abnormality rates at amniocentesis and in live-born infants.
|
| Hook EB, Cross PK, Schreinemachers DM.
|
| JAMA 249(15):2034-8. 1983
|
| 79 | TRI21
|
| Down syndrome: cytogenetical epidemiology.
|
| Mikkelsen M.
|
| Hereditas 86(1):45-50. No abstract available. 1977
|
| 80 | TRI21
|
| Etude des chromosomes somatiques de neuf enfants mongoliens
|
| Lejeune J, Gautier M, Turpin R.
|
| C R Acad Sci 248(11):1721-2. French. 1959
|