Results 81 to 90 of about 154,528 (340)
CYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA
Pakistan Armed Forces Medical Journal, 2021 Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup. Study Design: Cross-sectional study.
Sara Ali Zaidi +5 more
doaj
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]
, 2018 CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena +13 more
core +1 more source
American Journal of Hematology, EarlyView.ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang +18 more
wiley +1 more source
AnimalsMost of the previous studies on the genetic variability in Spanish “Berrenda” breeds have been carried out using DNA microsatellites. The present work aimed to estimate the genetic diversity, population structure, and potential genetic differences among ...
Rafael González-Cano +6 more
doaj +1 more source
Нypeгtriploidy as a cause of early embryonic arrest
Фундаментальная и клиническая медицина, 2020 Chromosomal abnormalities are a leading cause of early embryonic arrest Identification of genetic abnormalities incompatible with embryonic development significantly contributes to the understanding of early embryonic arrest causes and to the development
A. N. Volkov, L. V. Nacheva
doaj +1 more source
Multicolor chromosome bar codes [PDF]
, 2006 Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core +1 more source
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
Біологічні студіїBackground. Przewalski’s horse is included in the Red List of the International Union for Conservation of Nature and the Red Data Book of Ukraine as an endangered species.
Lyubov Starodub +5 more
doaj +1 more source
The correlation between micronuclei count and smoking behavior: A hospital-based study
Journal of Oral Research, 2020 Background: Micronucleus is a microscopically visible cyto-plasmic chromatin mass in the extranuclear vicinity, originating from aberrant mitosis, which consists of eccentric chromosomes that have failed to reach spindle poles during mitosis. The present
Lakshmi Balraj +2 more
doaj +1 more source
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source