Results 111 to 120 of about 148,275 (313)

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen, Heleen H. Arts, Erica Schollenberg, Samantha Kinley, Erika Aberg, Jo‐Ann K. Brock   +5 more
wiley   +1 more source

Unconventional vegetables collected in Brazil: chromosome number and description of nuclear DNA content

Crop Breeding and Applied Biotechnology, 2017
The aim of this study was to perform chromosome counts and nuclear DNA quantification of the unconventional vegetables species: bertalha (Basella alba L.), vinagreira verde (Hibiscus sabdariffa L.), azedinha (Rumex acetosa L.), peixinho (Stachys ...
Luis Felipe Lima e Silva, Vânia Helena Techio, Luciane Vilela Resende, Guilherme Tomaz Braz, Kátia Ferreira Marques de Resende, Carolina Queiroz Samartini   +5 more
doaj  

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

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

Prenatal 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, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Cytoembryological evaluation, meiotic behavior and pollen viability of Paspalum notatum tetraploidized plants

Crop Breeding and Applied Biotechnology, 2016
This study evaluated the mode of reproduction, the meiotic behavior and the pollen viability of three tetraploid plants (2n=4x=40) originated from somatic chromosome duplication of Paspalum notatum plants. The plant WKS 3 changed the mode of reproduction
Karine Cristina Krycki, Carine Simioni, Miguel Dall’Agnol   +2 more
doaj  

A Relapsed AML Case Featuring MYC and MECOM Rearrangements

Diagnostics
Background/Objectives: Relapsed acute myeloid leukemia (AML) is often characterized by clonal evolution and acquired genomic abnormalities, which can inform prognosis and direct therapeutic decisions. The emergence of high-risk chromosomal rearrangements
Kevin A. Murgas, Pons Materum, Luke Z. Li, Jacob Rocha, Michael Schuster, Tahmeena Ahmed, Carlos A. Tirado   +6 more
doaj   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source

Genomic and Cytogenetic Analysis of Synthetic Polyploids between Diploid and Tetraploid Cotton (Gossypium) Species. [PDF]

Plants (Basel), 2023
Khidirov MT, Ernazarova DK, Rafieva FU, Ernazarova ZA, Toshpulatov AK, Umarov RF, Kholova MD, Oripova BB, Kudratova MK, Gapparov BM, Khidirova MM, Komilov DJ, Turaev OS, Udall JA, Yu JZ, Kushanov FN.   +15 more
europepmc   +1 more source

Semi‐mechanistic population PK/PD model to aid clinical understanding of myelodysplastic syndromes following treatment with Venetoclax and Azacitidine

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 448-459, March 2025.
Abstract Myelodysplastic syndromes (MDS) represent a group of bone marrow disorders involving cytopenias, hypercellular bone marrow, and dysplastic hematopoietic progenitors. MDS remains a challenge to treat due to the complex interplay between disease‐induced and treatment‐related cytopenias.
Neha Thakre, Corinna Maier, Jiuhong Zha, Benjamin Engelhardt, Johannes E. Wolff, Sven Mensing   +5 more
wiley   +1 more source

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis. [PDF]

Mol Cytogenet, 2023
Yang Y, Hao W.
europepmc   +1 more source