[HTML] from pnas.orgVG Sankaran, TF Menne… - Proceedings of the …, 2011 - National Acad Sciences Many human aneuploidy syndromes have unique phenotypic consequences, but in most instances it is unclear whether these phenotypes are attributable to alterations in the dosage of specific genes. In human trisomy 13, there is delayed switching and persistence of fetal ... Cited by 9 - Related articles - All 7 versions
M Balasubramanian, LC Peres… - Clinical Dysmorphology, 2011 - journals.lww.com We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier reports of full trisomy 11, presumably because it is lethal and results in early spontaneous ... Related articles - All 4 versions
K Koide, DK Slonim, KL Johnson, U Tantravahi… - Human genetics, 2011 - Springer Abstract Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized “critical region” in trisomy 21 (21q22), there is no corresponding region on chromo- some 18 associated with its pathogenesis. The high morbidity and ... Cited by 2 - Related articles - All 4 versions
[PDF] from biocenter.kzEA Papageorgiou, A Karagrigoriou, E Tsaliki… - Nature Medicine, 2011 - nature.com The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures. Extensive investigation of methylation ... Cited by 5 - Related articles - All 7 versions
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