Results 141 to 150 of about 9,097 (228)

Evaluating pregnancy termination rates for fetal chromosome and single gene disorders. [PDF]

J Genet Couns
Herman MJ, Rosenfeld EB, Kasatkin N, Heiman GA, Khan SP, Ashkinadze E.   +5 more
europepmc   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study. [PDF]

Prenat Diagn
Iglesias AI, Van Opstal D, Thurik FF, Drost M, Weerts MJA, Joosten M, Diderich KEM, van der Schoot V, van den Born M, Galjaard RH, van Veen S, Goedegebuur-Zwalua E, de Weerd S, Dijkman A, Papatsonis D, Cornette JMJ, Galjaard S, Knapen MFCM, Prinsen K, Go ATJI, Stuurman KE, Srebniak MI.   +21 more
europepmc   +1 more source

Origin of human trisomy 21 mosaicism

, 2000
openaire   +2 more sources

A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Iakovleva AS, Markova ZG, Bessonova LA, Shilova NV.   +3 more
europepmc   +1 more source

Assessing the reliability of ChatGPT in cytogenetic reporting and interpretation: implications for clinical use. [PDF]

Mol Cytogenet
Chebly A, Veronese L, Chevret E.
europepmc   +1 more source

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency? [PDF]

Arch Gynecol Obstet
Su L, Zhao W, Huang H, Li Y, Xie X, Cai M, Zheng L, Xu L, Wu X.   +8 more
europepmc   +1 more source

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing. [PDF]

Front Genet
Yang S, Zhang H, Wang Y, Zhang Q, Wu Y, Fu X, Li R.   +6 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

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

JAMA Netw Open
Ludorf KL, Benjamin RH, Shumate CJ, Canfield MA, Nguyen J, Agopian AJ.   +5 more
europepmc   +1 more source

Surgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey. [PDF]

Cleft Palate Craniofac J
Sullivan LE, Alter NE, Hiller AR, Braun SA, Galdyn IA, Golinko MS, Pontell ME.   +6 more
europepmc   +1 more source