Results 1 to 10 of about 29,641 (255)

Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids

open access: yesFood Technology and Biotechnology, 2014
Evolution and genome stabilization have mostly been studied on the Saccharomyces hybrids isolated from natural and alcoholic fermentation environments. Genetic and phenotypic properties have usually been compared to the laboratory and reference strains ...
Walter P. Pfliegler   +7 more
doaj  

A Rare Case of Secondary Amenorrhoea Due to a Congenital Anomaly in a a Young Female Patient: A Case Report

open access: yesSri Lanka Journal of Medicine
Unilateral ovarian agenesis affects approximately 1 in 11,240 women while bilateral agenesis is even rarer. A 22-year-old Sri Lankan single woman and also a university undergraduate presented with a five-year absence of menstruation.
N. P. Hettiarachchi   +3 more
doaj   +1 more source

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities

open access: yesFrontiers in Genetics
ObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Yun Guo   +3 more
doaj   +1 more source

Histopathological Perspective of Linear and Whorled Nevoid Hypermelanosis in Adulthood: A Rare Case Report

open access: yesMedical Journal of Dr. D.Y. Patil Vidyapeeth
A rare pigmentation disorder called linear and whorled nevoid hypermelanosis (LWNH) is characterized by macular hyperpigmentation that follows the Blaschko lines.
Banyameen Iqbal   +3 more
doaj   +1 more source

TRIPLOID KARYOTYPES IN PRENATAL DIAGNOSIS AT UNIVERSITY CLINICAL CENTER OF REPUBLIC OF SRPSKA

open access: yesGenetics & Applications, 2017
Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes.
Marija Vuković   +7 more
doaj  

Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith–Wiedemann syndrome (BWS).
Kuan Ju Chen   +4 more
doaj   +1 more source

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

open access: yesFrontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek   +24 more
doaj   +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  

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities

open access: yesFrontiers in Genetics
Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and T13).
Jong Chul Kim   +12 more
doaj   +1 more source

Prevalence of chromosomal abnormalities and polymorphisms in 4,672 infertile patients undergoing assisted reproductive techniques in the United Arab Emirates population

open access: yesFrontiers in Reproductive Health
IntroductionChromosomal abnormalities (CA) are a key genetic contributor to infertility, particularly in regions with high consanguinity. Despite growing utilization of assisted reproductive techniques (ART) in the Gulf region, large-scale cytogenetic ...
Divyesh Upadhyay   +6 more
doaj   +1 more source

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