Results 151 to 160 of about 43,589 (247)

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

Case Rep Genet
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang YH, Wen J, Bale A, Li P, Zhang H.   +10 more
europepmc   +1 more source

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area. [PDF]

Front Genet
Zhou M, Zhang H, Wen J, Liu N, Wu Z, Lin T, Tang M, Huang Y, Xiao Y, Xie H, Ouyang X, Xiao X, Deng L, Chen N, Zeng A, Peng J.   +15 more
europepmc   +1 more source

Identifying Differentially Methylated Sites for Methylation-Sensitive qPCR-based NIPT of Trisomies 13 and 18. [PDF]

Adv Biomed Res
Najafi A, Dastbaz E, Mehrabani A, Rajabi M, Sedaghat Shayegan G, Miryounesi M, Modarressi MH.   +6 more
europepmc   +1 more source

Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]

PLoS One
Fu G, Hu S.
europepmc   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Complex <i>de novo</i> tetrasomy and trisomy of 2p22.2 involving <i>EIF2AK2</i> in a child with global developmental delay: a case report and literature review. [PDF]

Front Pediatr
Wang J, Duan X, Xu C, Song T, Shen D, Fang F.   +5 more
europepmc   +1 more source

Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. [PDF]

Front Med (Lausanne)
Ye Y, Wang X, He Y, Ning H, Zhang Z, Tao F, Zou Z, Fang Q, Chen Z, Tian X, Hao X.   +10 more
europepmc   +1 more source

Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review. [PDF]

Case Rep Gastrointest Med
Niu ZY, Zhu MF, Tao M, Zhang C, Gu F, Li J.   +5 more
europepmc   +1 more source

The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences. [PDF]

Health Sci Rep
Rana MS, Parvin MM, Islam MT.
europepmc   +1 more source

Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq. [PDF]

BMC Pregnancy Childbirth
Huang S, Huang T, Liu D, Yuan H, Zhou Y, Zeng B, Bai G.   +6 more
europepmc   +1 more source