Results 1 to 10 of about 115,758 (268)

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.
Brendan Donaldson   +2 more
doaj   +1 more source

A Modified Integrated Genetic Model for Risk Prediction in Younger Patients with Acute Myeloid Leukemia. [PDF]

open access: yesPLoS ONE, 2016
BACKGROUND:Although cytogenetics-based prognostication systems are well described in acute myeloid leukemia (AML), overall survival (OS) remains highly variable within risk groups.
Caroline E Sloan   +10 more
doaj   +1 more source

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

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 M. Li, Daniel Pinkel
openaire   +3 more sources

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

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

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

Genomic characterisation of Arachis porphyrocalyx (Valls & C.E. Simpson, 2005) (Leguminosae): Multiple origin of Arachis species with x = 9 [PDF]

open access: yes, 2017
The genus Arachis Linnaeus, 1753 comprises four species with x = 9, three belong to the section Arachis: Arachis praecox (Krapov. W.C. Greg. & Valls, 1994), Arachis palustris (Krapov. W.C. Greg. & Valls, 1994) and Arachis decora (Krapov. W.C.
Lavia, Graciela Inés   +4 more
core   +8 more sources

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

open access: yesJournal of Genetic Engineering and Biotechnology, 2022
Background The prenatal diagnosis of syndromes caused by chromosomal abnormality is a long-established part of obstetric care. Several DNA-based molecular approaches have provided rapid prenatal diagnosis of of cytogenomic abnormalities.
Ola M. Eid   +5 more
doaj   +1 more source

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