Results 1 to 10 of about 59,383 (308)

Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective

open access: yesAnimals, 2021
The chromosomes of the domestic pig (Sus scrofa domesticus) are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers.
Daniel A F Villagómez
exaly   +3 more sources

“Classical cytogenetics” is not equal to “banding cytogenetics” [PDF]

open access: yesMolecular Cytogenetics, 2017
Human cytogenetics is a field suffering from the argumentation that it 'is nowadays really outdated and to be replaced by molecular high throughput approaches'. Thus, it is to be expected that non-cytogeneticists do mistakes in nomenclature of cytogenetics, which is exposed to repeated reforms, like e.g.
Thomas Liehr
exaly   +3 more sources

Impact of cytogenetics on outcomes in pediatric acute lymphoblastic leukemia

open access: yesSouth Asian Journal of Cancer, 2018
Context: In acute lymphoblastic leukemia (ALL), the most important prognostic factors are age, leukocyte count at presentation, immunophenotype, and cytogenetic abnormalities.
Rachana Chennamaneni   +5 more
doaj   +2 more sources

Human molecular cytogenetics: from cells to nucleotides [PDF]

open access: yesGenetics and Molecular Biology, 2014
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind
Mariluce Riegel
doaj   +2 more sources

Clinical cytogenetics and molecular cytogenetics [PDF]

open access: yesJournal of Zhejiang University SCIENCE B, 2006
The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
Marilyn, Li, Daniel, Pinkel
openaire   +2 more sources

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

open access: yesMolecular Cytogenetics, 2022
Background Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births.
Bochra Khadija   +9 more
doaj   +1 more source

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

open access: yesBMC Medical Genomics, 2022
Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis.
Somprakash Dhangar   +5 more
doaj   +1 more source

Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)

open access: yesMolecular Cytogenetics, 2022
Background HAP1, a near-haploid human leukemic cancer cell line is often used in combination with CRISPR-Cas9 gene editing technology for genetic screens.
Ruby Banerjee   +3 more
doaj   +1 more source

A critical review on cytogenetics of Cucurbitaceae with updates on Indian taxa [PDF]

open access: yesComparative Cytogenetics, 2022
The cytogenetic relationships in the species of Cucurbitaceae are becoming immensely important to answer questions pertaining to genome evolution. Here, a simplified and updated data resource on cytogenetics of Cucurbitaceae is presented on the basis of ...
Biplab Kumar Bhowmick, Sumita Jha
doaj   +3 more sources

Clinical significance and mechanisms associated with segmental UPD

open access: yesMolecular Cytogenetics, 2021
Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear.
Peter R. Papenhausen   +5 more
doaj   +1 more source

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