Results 211 to 220 of about 113,215 (275)

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Comparison of clinical heterogeneity among carriers with genetic imbalance on 22q11.2 based on referral reason for chromosomal microarray analysis

, 2021
Débora Camilotti
openalex   +1 more source

Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

, 2021
Hee Sue Park, Aryun Kim, Kyeong Seob Shin, Bo Ra Son   +3 more
openalex   +2 more sources

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

PROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto, Samaneh Ghadami, Kristen Dellinger   +2 more
wiley   +1 more source

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction. [PDF]

BMC Pregnancy Childbirth
Li P, Wu W, Zhang X, Li Y, Liu M, Wang Y, Man D, Wang F.   +7 more
europepmc   +1 more source

Retracted: A Three-Year Prospective Study Assessing the Application of Chromosomal Microarray Analysis in 576 High-Risk Pregnant Women. [PDF]

Evid Based Complement Alternat Med, 2023
And Alternative Medicine EC.
europepmc   +1 more source

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity. [PDF]

Front Immunol, 2023
Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J.   +35 more
europepmc   +1 more source

Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres [PDF]

, 2003
Alicia Alonso
openalex   +1 more source