Results 131 to 140 of about 49,281 (297)

karyotype

open access: yes
Citation: 'karyotype' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10872 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +2 more sources

Chromosome aberration detection with hybridized DNA probes: digital image analysis and slit scan flow cytometry [PDF]

open access: yes, 1989
D Pinkel   +20 more
core   +1 more source

m-FISH analysis reveals complexity of chromosome aberrations in individuals occupationally exposed with internal plutonium: A pilot study to assess the relevance of complex aberrations as biomarkers of exposure to high-LET α particles [PDF]

open access: yes, 2005
We recently demonstrated that a significant proportion of apparently stable insertions induced after exposure to a mean of 1 α particle/cell, detected using 3-colour FISH, were part of larger unstable complexes when visualised by 24-colour FISH ...
Anderson, RM   +5 more
core  

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

Characterization of the BHK-21C5 Cell line and Its Introduction for use in Research, Diagnostics and Production of Biological Products

open access: yesBihdād, 2020
Background and Objectives: Several studies have been carried out on the use of cell lines in researches, production and processing of drugs and biological products, and on the identification of toxicity and efficacy.The present study was conducted to ...
Fereshteh Ziaiifar   +2 more
doaj  

Management of intestinal transplantation in humans [PDF]

open access: yes, 1992
We report here the clinical experience and management guidelines for the nine consecutive cases who received either an isolated small intestinal graft (n = 1) or an intestine liver combination at the University of Pittsburgh, with FK 506 being the basic ...
Abu-Elmagd, K   +14 more
core  

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Chromosomal Abnormalities in Couples Experiencing Recurrent Implantation Failure in West of Iran: A Case–Control Study

open access: yesMolecular Genetics & Genomic Medicine
Background Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high‐quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection ...
Atefeh Asgari   +4 more
doaj   +1 more source

Spectral imaging in preclinical research and clinical pathology. [PDF]

open access: yes, 2012
Spectral imaging methods are attracting increased interest from researchers and practitioners in basic science, pre-clinical and clinical arenas. A combination of better labeling reagents and better optics creates opportunities to detect and measure ...
Beechem, Joseph   +2 more
core  

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu   +7 more
wiley   +1 more source

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