Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
暂无分享,去创建一个
[1] T. Eggermann,et al. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients , 2001, Journal of medical genetics.
[2] L. Shaffer,et al. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations , 2000, Prenatal diagnosis.
[3] G. Senger,et al. Maternal UPD 20 in a hyperactive child with severe growth retardation , 1999, European Journal of Human Genetics.
[4] G. Shaw,et al. Infant methionine synthase variants and risk for spina bifida , 1999, Journal of medical genetics.
[5] A. Reeve,et al. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. , 1998, Human Molecular Genetics.
[6] D. Ledbetter,et al. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. , 1995, Human molecular genetics.
[7] D. Kalousek,et al. Genomic imprinting related to prenatal diagnosis , 1994, Prenatal diagnosis.
[8] S. Kaffe,et al. A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases , 1991, Prenatal diagnosis.
[9] L. Weiss,et al. Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts , 1989, Prenatal diagnosis.
[10] Jonathan P. Park,et al. Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn , 1989, Prenatal Diagnosis.
[11] W. Holzgreve,et al. Chromosome analyses from urinary sediment: postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism. , 1989, The New England journal of medicine.