Results 1 to 10 of about 128,557 (342)

Incorporating automation in a cytogenetics laboratory: three practitioners’ perspectives on benefits and limitations [PDF]

Molecular Cytogenetics
Automation has been developed and continues to be refined for cytogenetics, including advances in the processing of samples, in analysis of conventional chromosome and fluorescence in situ hybridization (FISH) testing, and with artificial intelligence ...
Cecelia Miller, Jennie Thurston, Ninette Cohen   +2 more
doaj   +2 more sources

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

Animals, 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, Daniel A. F. Villagomez, W. Allan King   +2 more
doaj   +1 more source

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

PLoS 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, Marlise R Luskin, Anne M Boccuti, Alison R Sehgal, Jianhua Zhao, Robert D Daber, Jennifer J D Morrissette, Selina M Luger, Adam Bagg, Phyllis A Gimotty, Martin Carroll   +10 more
doaj   +1 more source

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

Molecular 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, Khouloud Rjiba, Sarra Dimassi, Wafa Dahleb, Molka Kammoun, Hanen Hannechi, Najoua Miladi, Neziha Gouider-khouja, Ali Saad, Soumaya Mougou-Zerelli   +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

BMC 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, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti   +5 more
doaj   +1 more source

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

Comparative 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)

Molecular 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, Cibele G. Sotero-Caio, Beiyuan Fu, Fengtang Yang   +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]

, 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, Ortiz, Alejandra Marcela, Robledo Dobladez, Germán Ariel, Silvestri, María Celeste, Valls, José Francisco M.   +4 more
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Clinical significance and mechanisms associated with segmental UPD

Molecular 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, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz, Andrea Penton   +5 more
doaj   +1 more source

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

Journal 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, Maha M. Eid, Marwa Farid, Rania M. A. Abdel Kader, Rana Mahrous, Sara H. El-Dessouky   +5 more
doaj   +1 more source