430 related articles for article (PubMed ID: 19597142)
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; 106(29):12031-6. PubMed ID: 19597142
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19002211
[TBL] [Abstract][Full Text] [Related]
3. Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
Pelleri MC; Cicchini E; Locatelli C; Vitale L; Caracausi M; Piovesan A; Rocca A; Poletti G; Seri M; Strippoli P; Cocchi G
Hum Mol Genet; 2016 Jun; 25(12):2525-2538. PubMed ID: 27106104
[TBL] [Abstract][Full Text] [Related]
4. 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; 536(2):441-3. PubMed ID: 24334122
[TBL] [Abstract][Full Text] [Related]
5. Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.
Pelleri MC; Cicchini E; Petersen MB; Tranebjaerg L; Mattina T; Magini P; Antonaros F; Caracausi M; Vitale L; Locatelli C; Seri M; Strippoli P; Piovesan A; Cocchi G
Mol Genet Genomic Med; 2019 Aug; 7(8):e797. PubMed ID: 31237416
[TBL] [Abstract][Full Text] [Related]
6. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC; Locatelli C; Mattina T; Bonaglia MC; Piazza F; Magini P; Antonaros F; Ramacieri G; Vione B; Vitale L; Seri M; Strippoli P; Cocchi G; Piovesan A; Caracausi M
BMC Med Genomics; 2022 Dec; 15(1):266. PubMed ID: 36544206
[TBL] [Abstract][Full Text] [Related]
7. 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
Proc Natl Acad Sci U S A; 1994 May; 91(11):4997-5001. PubMed ID: 8197171
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 8792823
[TBL] [Abstract][Full Text] [Related]
9. Mouse models of Down syndrome: gene content and consequences.
Gupta M; Dhanasekaran AR; Gardiner KJ
Mamm Genome; 2016 Dec; 27(11-12):538-555. PubMed ID: 27538963
[TBL] [Abstract][Full Text] [Related]
10. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
Capkova P; Misovicova N; Vrbicka D
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
[TBL] [Abstract][Full Text] [Related]
11. Transient myeloproliferative disorder with partial trisomy 21.
Takahashi T; Inoue A; Yoshimoto J; Kanamitsu K; Taki T; Imada M; Yamada M; Ninomiya S; Toki T; Terui K; Ito E; Shimada A
Pediatr Blood Cancer; 2015 Nov; 62(11):2021-4. PubMed ID: 26138905
[TBL] [Abstract][Full Text] [Related]
12. 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; 1366():162-71. PubMed ID: 20932954
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 24362460
[TBL] [Abstract][Full Text] [Related]
14. Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome.
Kirsammer G; Jilani S; Liu H; Davis E; Gurbuxani S; Le Beau MM; Crispino JD
Blood; 2008 Jan; 111(2):767-75. PubMed ID: 17901249
[TBL] [Abstract][Full Text] [Related]
15. Early lineage priming by trisomy of Erg leads to myeloproliferation in a Down syndrome model.
Ng AP; Hu Y; Metcalf D; Hyland CD; Ierino H; Phipson B; Wu D; Baldwin TM; Kauppi M; Kiu H; Di Rago L; Hilton DJ; Smyth GK; Alexander WS
PLoS Genet; 2015 May; 11(5):e1005211. PubMed ID: 25973911
[TBL] [Abstract][Full Text] [Related]
16. 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; 33(1):65-74. PubMed ID: 8617511
[TBL] [Abstract][Full Text] [Related]
17. Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel.
Lana-Elola E; Watson-Scales S; Slender A; Gibbins D; Martineau A; Douglas C; Mohun T; Fisher EM; Tybulewicz VL
Elife; 2016 Jan; 5():. PubMed ID: 26765563
[TBL] [Abstract][Full Text] [Related]
18. Trisomy 21 and Down syndrome: a short review.
Sommer C; Henrique-Silva F
Braz J Biol; 2008 May; 68(2):447-52. PubMed ID: 18660978
[TBL] [Abstract][Full Text] [Related]
19. Molecular genetic analysis of Down syndrome.
Patterson D
Hum Genet; 2009 Jul; 126(1):195-214. PubMed ID: 19526251
[TBL] [Abstract][Full Text] [Related]
20. A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21.
Kazuki Y; Gao FJ; Li Y; Moyer AJ; Devenney B; Hiramatsu K; Miyagawa-Tomita S; Abe S; Kazuki K; Kajitani N; Uno N; Takehara S; Takiguchi M; Yamakawa M; Hasegawa A; Shimizu R; Matsukura S; Noda N; Ogonuki N; Inoue K; Matoba S; Ogura A; Florea LD; Savonenko A; Xiao M; Wu D; Batista DA; Yang J; Qiu Z; Singh N; Richtsmeier JT; Takeuchi T; Oshimura M; Reeves RH
Elife; 2020 Jun; 9():. PubMed ID: 32597754
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]