Sex chromosome aberrations - Open Access .click

Results 111 to 120 of about 36,631 (311)

High mutation frequency induced by hybridization [PDF]

, 1939
The increase in variability that is a familiar result of the rearing of second generations from crosses between different races is certainly due chiefly to segregation and recombination of genes in which the parental races differed.
Sturtevant, A. H.
core

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara +4 more
wiley +1 more source

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen +23 more
wiley +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Taiwanese Journal of Obstetrics & Gynecology
Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo +12 more
doaj +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source

Skylab: Cytogenetic studies of blood (experiment mill) [PDF]

Preflight and postflight chromosomal analyses of space flight crews are presented. Special attention is given to findings suggestive of exposure to ionizing radiation.
Lockhart, L. H.
core +1 more source

Risk of venous thromboembolism after SARS‐CoV‐2 vaccination—Evidence from genome‐wide association study and population‐based observational study

British Journal of Clinical Pharmacology, EarlyView.
Aim We aimed to investigate whether genetic variation is associated with venous thromboembolism after immunization with SARS‐CoV‐2 vaccines. Methods We conducted a genome‐wide association study (GWAS) on cases of venous thromboembolism within 42 days after SARS‐CoV‐2 vaccination, recruited from reports of adverse drug reactions sent to the Swedish ...
Sofia Attelind +7 more
wiley +1 more source

Modification of cytogenetic and physiological effects of space flight factors by biologically active compounds [PDF]

Physiological and cytogenetic changes in the Welsh onion plants induced by a short (82 days) and long term (522 days) space flight are expressed in decrease of seed germination, inhibition of stem growth, depression of cell division in root meristem, and
Alekperov, U. K. +3 more
core +1 more source

chromosome aberrations
male
female

klinefelter syndrome
karyotyping
turner syndrome

3. good health
sex chromosomes
adult