Results 1 to 10 of about 132,265 (338)
Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report [PDF]
Molecular CytogeneticsBackground Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations.
Kiran Sachwani +3 more
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Incorporating automation in a cytogenetics laboratory: three practitioners’ perspectives on benefits and limitations [PDF]
Molecular CytogeneticsAutomation 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 +2 more
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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 +2 more
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Clinical cytogenetics and molecular cytogenetics [PDF]
Journal 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
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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 +10 more
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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 +9 more
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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 +5 more
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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
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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 +5 more
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