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Items: 1 to 20 of 214

1.

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.

2.

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
3.

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Korenberg JR, Bradley C, Disteche CM.

Am J Hum Genet. 1992 Feb;50(2):294-302.

4.

Down syndrome: toward a molecular definition of the phenotype.

Korenberg JR, Kawashima H, Pulst SM, Allen L, Magenis E, Epstein CJ.

Am J Med Genet Suppl. 1990;7:91-7.

PMID:
2149983
5.

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
6.

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

Korenberg JR, Kawashima H, Pulst SM, Ikeuchi T, Ogasawara N, Yamamoto K, Schonberg SA, West R, Allen L, Magenis E, et al.

Am J Hum Genet. 1990 Aug;47(2):236-46.

7.

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 1;33(1):65-74.

PMID:
8617511
8.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
9.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH.

J Med Genet. 2001 Jan;38(1):26-34.

10.

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.

Genomics. 1999 Jun 1;58(2):138-45.

PMID:
10366445
11.

Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21.

Ohira M, Ootsuyama A, Suzuki E, Ichikawa H, Seki N, Nagase T, Nomura N, Ohki M.

DNA Res. 1996 Feb 29;3(1):9-16.

PMID:
8724848
13.

Physical mapping of chromosome 21.

Patterson D, Rahmani Z, Donaldson D, Gardiner K, Jones C.

Prog Clin Biol Res. 1993;384:33-50. Review.

PMID:
8115406
14.

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.

Zollino M, Wright TJ, Di Stefano C, Tosolini A, Battaglia A, Altherr MR, Neri G.

Am J Med Genet. 1999 Feb 19;82(5):371-5.

PMID:
10069706
15.

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.

16.

The consequences of chromosome imbalance.

Epstein CJ.

Am J Med Genet Suppl. 1990;7:31-7. Review.

PMID:
2149968
17.

VI. Genome structure and cognitive map of Williams syndrome.

Korenberg JR, Chen XN, Hirota H, Lai Z, Bellugi U, Burian D, Roe B, Matsuoka R.

J Cogn Neurosci. 2000;12 Suppl 1:89-107.

PMID:
10953236
18.

The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice.

Lopes C, Chettouh Z, Delabar JM, Rachidi M.

Biochem Biophys Res Commun. 2003 Jun 13;305(4):915-24. Erratum in: Biochem Biophys Res Commun. 2003 Aug 1;307(3):758. Biochem Biophys Res Commun. 2003 Dec 19;312(3):865.

PMID:
12767918
19.
20.

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. doi: 10.5507/bp.2013.077. Epub 2013 Oct 18.

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