Results 1 to 10 of about 65,280 (255)

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.
Daniel Villagomez, W Allan King
exaly   +3 more sources

Impact of cytogenetics on outcomes in pediatric acute lymphoblastic leukemia

South 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, Sadashivudu Gundeti, Meher Lakshmi Konatam, Stalin Bala, Ashok Kumar, Lakshmi Srinivas   +5 more
doaj   +2 more sources

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

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

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

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

Doctor Egeny Kachvoryan (2.III.1942-6.XII.2008)

Comparative Cytogenetics, 2009
On 6 December 2008 Egeny Kachvoryan, an eminent specialist in the field of entomology, taxonomy, cytogenetics and ecology of blackflies (Simulidae, Diptera) passed away.
Comparative Cytogenetics Editorial Board
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

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

PLoS ONE, 2016
BackgroundAlthough 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