共 295 条
[1]
Parker SE(2010)Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006 Birth Defects Res A Clin Mol Teratol 88 1008-1016
[2]
Mai CT(1993)Molecular mapping of twenty-four features of Down syndrome on chromosome 21 Eur J Hum Genet 1 114-124
[3]
Canfield MA(2004)Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down syndrome Genome Res 14 1258-1267
[4]
Rickard R(2004)Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome Hum Mol Genet 13 1333-1340
[5]
Wang Y(2005)Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21 Clin Dysmorphol 14 183-187
[6]
Meyer RE(2017)Down syndrome, partial trisomy 21, and absence of Alzheimer's disease: the role of APP J Alzheimers Dis 56 459-470
[7]
Anderson P(2016)Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature Mol Cytogenet 9 21-2538
[8]
Mason CA(2016)Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype Hum Mol Genet 25 2525-170
[9]
Collins JS(2015)De novo double reciprocal translocations in addition to partial monosomy at another chromosome: a very rare case Gene 573 166-533
[10]
Kirby RS(2009)DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources Am J Hum Genet 84 524-1232