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Results: 1 to 20 of 152

1.

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
2.

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]
3.

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]
4.

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
5.

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K.

Am J Med Genet A. 2011 Jan;155A(1):113-9. doi: 10.1002/ajmg.a.33735. Epub 2010 Dec 10.

PMID:
21204217
[PubMed - indexed for MEDLINE]
6.

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]
7.
8.

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.

Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.

PMID:
22407767
[PubMed - indexed for MEDLINE]
9.

Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.

Sohn YB, Yun JN, Park SJ, Park MS, Kim SH, Lee JH.

Ann Clin Lab Sci. 2013 Summer;43(3):332-6.

PMID:
23884231
[PubMed - indexed for MEDLINE]
10.

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.

Gribble SM, Wiseman FK, Clayton S, Prigmore E, Langley E, Yang F, Maguire S, Fu B, Rajan D, Sheppard O, Scott C, Hauser H, Stephens PJ, Stebbings LA, Ng BL, Fitzgerald T, Quail MA, Banerjee R, Rothkamm K, Tybulewicz VL, Fisher EM, Carter NP.

PLoS One. 2013 Apr 15;8(4):e60482. doi: 10.1371/journal.pone.0060482. Print 2013.

PMID:
23596509
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.

Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.

PMID:
22052712
[PubMed - indexed for MEDLINE]
12.

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Valero R, Marfany G, Gil-Benso R, Ibáñez MA, López-Pajares I, Prieto F, Rullan G, Sarret E, Gonzàlez-Duarte R.

J Med Genet. 1999 Sep;36(9):694-9.

PMID:
10507727
[PubMed - indexed for MEDLINE]
Free PMC Article
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. doi: 10.1007/s00439-013-1407-z. Epub 2013 Dec 22.

PMID:
24362460
[PubMed - indexed for MEDLINE]
14.

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
15.

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2007 Aug 15;143A(16):1858-67.

PMID:
17632778
[PubMed - indexed for MEDLINE]
16.

Inv21p12q22del21q22 and intellectual disability.

Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP.

Gene. 2013 Mar 15;517(1):120-4. doi: 10.1016/j.gene.2012.12.045. Epub 2012 Dec 20.

PMID:
23266646
[PubMed - indexed for MEDLINE]
17.

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Pangalos C, Théophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré MO, Lejeune J, et al.

Am J Hum Genet. 1992 Dec;51(6):1240-50.

PMID:
1463008
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Down syndrome congenital heart disease: a narrowed region and a candidate gene.

Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR.

Genet Med. 2001 Mar-Apr;3(2):91-101.

PMID:
11280955
[PubMed - indexed for MEDLINE]
19.

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G.

Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10.

PMID:
21671372
[PubMed - indexed for MEDLINE]
20.

[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].

Zhu CJ, Huang ZY, Wu WQ, Zhao Q, Jiang HY, Xie JS.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):460-4. Chinese.

PMID:
22931946
[PubMed - indexed for MEDLINE]

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