Results 11 to 20 of about 124,374 (336)
Proceedings 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 ...
Tian-Li, Wang +6 more
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Umbilical Cyst with Edward Syndrome [PDF]
Indian 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
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Identification of heterochromatic variations in nonsyndromic cleft lip and palate
Journal 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
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Blood Advances, 2021 Although copy number alterations (CNAs) and translocations constitute the backbone of the diagnosis and prognostication of acute myeloid leukemia (AML), techniques used for their assessment in routine diagnostics have not been reconsidered for decades ...
S. Mareschal +17 more
semanticscholar +1 more source
Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia
Future Science OA, 2020 Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may
Muhammad Sanusi Yahaya +4 more
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Frontiers 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
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Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review
Репродуктивная 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
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Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]
New 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
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IEEE 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
Cell culture-based karyotyping of orectolobiform sharks for chromosome-scale genome analysis
Communications Biology, 2020 Karyotyping, traditionally performed using cytogenetic techniques, is indispensable for validating genome assemblies whose sequence lengths can be scaled up to chromosome sizes using modern methods. Karyotype reports of chondrichthyans are scarce because
Y. Uno +7 more
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