Results 21 to 30 of about 120,383 (385)

Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]

open access: yesNew Indian Journal of OBGYN, 2019
Objectives: The objective of the study is to determine the incidence, clinical and ultrasound characteristics of choroid plexus cyst diagnosed during the 18 -23 weeks anomaly scan and the genetic outcome in 6 pregnancies that underwent molecular ...
Olufemi Adebari Oloyede
doaj   +1 more source

Combining Multicolor FISH with Fluorescence Lifetime Imaging for Chromosomal Identification and Chromosomal Sub Structure Investigation

open access: yesFrontiers in Molecular Biosciences, 2021
Understanding the structure of chromatin in chromosomes during normal and diseased state of cells is still one of the key challenges in structural biology.
Archana Bhartiya   +7 more
doaj   +1 more source

Several different cytogenetic clones arising during treatment of Philadelphia positive chronic myeloid leukemia with tyrosine kinase inhibitors lead to the progression into Philadelphia negative acute myeloid leukemia [PDF]

open access: yesVojnosanitetski Pregled, 2021
Introduction. Additional karyotype abnormalities in the Philadelphia-positive (Ph+) clone can emerge during the progression of chronic myeloid leukemia (CML) and are of-ten associated with the resistance to treatment with tyrosine kinase inhibitors (TKI).
Denčić-Fekete Marija   +6 more
doaj   +1 more source

Identification of heterochromatic variations in nonsyndromic cleft lip and palate

open access: yesJournal of Orofacial Sciences, 2023
Introduction: Orofacial cleft (OFC) has been one of the major common congenital anomalies exhibiting prominent ramifications allied with the medical, social, psychological, and economic strands.
Soumya Raj   +5 more
doaj   +1 more source

Umbilical Cyst with Edward Syndrome [PDF]

open access: yesIndian Journal of Neonatal Medicine and Research, 2016
The advances in Obstetric ultrasonography have allowed early and accurate detection of anomalies in utero. Umbilical cord anomalies may include cysts, vascular anomalies and masses.
Bhavesh Dinesh Rathod   +1 more
doaj   +1 more source

Digital karyotyping [PDF]

open access: yesProceedings of the National Academy of Sciences, 2002
Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci ...
Christoph Lengauer   +6 more
openaire   +3 more sources

Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype [PDF]

open access: yesVojnosanitetski Pregled, 2023
Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon.
Denčić-Fekete Marija   +7 more
doaj   +1 more source

Automated System for Chromosome Karyotyping to Recognize the Most Common Numerical Abnormalities Using Deep Learning

open access: yesIEEE Access, 2020
Chromosome analysis is an essential task in a cytogenetics lab, where cytogeneticists can diagnose whether there are abnormalities or not. Karyotyping is a standard technique in chromosome analysis that classifies metaphase image to 24 chromosome classes.
Mona Salem Al-Kharraz   +2 more
semanticscholar   +1 more source

Karyotype evolution in Fusarium [PDF]

open access: yesIMA Fungus, 2018
The germ tube burst method (GTBM) was employed to examine karyotypes of 33 Fusarium species representative of 11 species complexes that span the phylogenetic breadth of the genus. The karyotypes revealed that the nucleolar organizing region (NOR), which includes the ribosomal rDNA region, was telomeric in the species where it was discernible.
Waalwijk, C.   +5 more
openaire   +4 more sources

Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review

open access: yesРепродуктивная эндокринология, 2020
Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine.
О. А. Бурка   +3 more
doaj   +1 more source

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