Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]
, 2012 Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W +14 more
core +1 more source
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey [PDF]
, 2021 Eve Emes +18 more
openalex +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 +15 more
wiley +1 more source
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To investigate whether combining abnormal morphological features observed on ultrasound in live pregnancies that ended in a first‐trimester miscarriage can predict an abnormal karyotype. Methods This retrospective observational cohort study was conducted at the early‐pregnancy assessment unit at University College London Hospital ...
T. Setty +5 more
wiley +1 more source
National Journal of Clinical Anatomy, 2017 Background: Approximately 15% of all clinically recognized pregnancies end in spontaneous abortions. Chromosomal disorders are responsible for 50% of the spontaneous abortions. Most commonly it occurs in the first trimester of pregnancy.
Shahin Kazi, Harsha A Keche, Kotwaliwale
doaj +1 more source
Large-scale Oscillation of Structure-Related DNA Sequence Features in Human Chromosome 21
, 2006 Human chromosome 21 is the only chromosome in human genome that exhibits oscillation of (G+C)-content of cycle length of hundreds kilobases (500 kb near the right telomere). We aim at establishing the existence of similar periodicity in structure-related
A. Panjkovich +14 more
core +1 more source
Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas [PDF]
, 2018 Pilocytic astrocytomas represent the most common glioma subtype in young patients and account for 5.4% of all gliomas. They are characterized by alterations in the RAS–MAP kinase pathway, the most frequent being a tandem duplication on chromosome 7q34 ...
Appay, Romain +13 more
core +3 more sources
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review [PDF]
, 2022 Angélica Martínez‐Hernández +14 more
openalex +1 more source
Addiction, EarlyView.Abstract Aims To assess whether combining nicotine replacement therapy (NRT) with varenicline improves long‐term smoking cessation rates compared with varenicline or NRT alone. Method Systematic review and meta‐analysis of randomized controlled trials (RCTs) or quasi‐RCTs, conducted according to PRISMA guidelines.
Xinmei Zhou +18 more
wiley +1 more source
Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]
, 2005 BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E. +2 more
core +3 more sources