Results 11 to 20 of about 132,265 (338)

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

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +4 more sources

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

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

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   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A., Iwarsson, Erik, Jonsson, Anna Maria, Papadogiannakis, Nikos, Patel, Suketu D., Tankimanova, Maira, Westgren, Magnus   +6 more
core   +2 more sources

Detection of monosomy 7 in interphase cells of patients with myeloid disorders [PDF]

, 1990
Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis.
Cremer, Thomas, Gezer, Sefer, Kolluri, Rukmini V., Manuelidis, L., Raza, Azra, Sait, Sheila   +5 more
core   +1 more source

Better treatment outcomes in patients with actively treated therapy-related myeloid neoplasms harboring a normal karyotype.

PLoS ONE, 2018
We analyzed treatment outcomes and prognostic factors in adult patients with therapy-related myeloid neoplasms (t-MNs) to select patients who would be benefited by active anticancer treatment. After excluding 18 patients who received palliative care only
Sang-A Kim, Junshik Hong, Woo Chan Park, Dong-Yeop Shin, Youngil Koh, Inho Kim, Dong Soon Lee, Sung-Soo Yoon   +7 more
doaj   +1 more source

Genome reorganization in different cancer types: detection of cancer specific breakpoint regions [PDF]

, 2019
Background: Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions that are prone to the ...
Klein, Andreas, Parczyk, Jonas, Ruhnau, Jerome, Standfuß, Christoph   +3 more
core   +1 more source