Results 11 to 20 of about 49,281 (297)

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 ...
Tian-Li, Wang   +6 more
openaire   +2 more sources

Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia

open access: yesFuture 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
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

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

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

In silico karyotyping of chromosomally polymorphic malaria mosquitoes in the Anopheles gambiae complex [PDF]

open access: yes, 2019
Chromosomal inversion polymorphisms play an important role in adaptation to environmental heterogeneities. For mosquito species in the Anopheles gambiae complex that are significant vectors of human malaria, paracentric inversion polymorphisms are ...
Besansky, N. J.   +7 more
core   +1 more source

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

open access: yes, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko   +5 more
core   +1 more source

Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results

open access: yesBMC Pregnancy and Childbirth, 2022
Background Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems.
Han Kang   +5 more
doaj   +1 more source

Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements [PDF]

open access: yes, 2003
The mouse has evolved to be the primary mammalian genetic model organism. Important applications include the modeling of human cancer and cloning experiments. In both settings, a detailed analysis of the mouse genome is essential.
Geigl, J.   +3 more
core   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

open access: yes, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten   +30 more
core   +1 more source

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