Results 21 to 30 of about 231,105 (412)

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

The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina [PDF]

, 2013
Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), B. elongatum Montandon, 1908 and B. gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male).
Bressa, Maria Jose, Chirino, Monica Gabriela, Papeschi, Alba Graciela   +2 more
core   +2 more sources

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

Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group.

Blood, 2016
The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were ...
P. Sonneveld, H. Avet-Loiseau, S. Lonial, S. Usmani, D. Siegel, K. Anderson, W. Chng, P. Moreau, M. Attal, R. Kyle, J. Caers, J. Hillengass, J. S. San Miguel, N. V. D. van de Donk, H. Einsele, J. Bladé, B. Durie, H. Goldschmidt, M. Mateos, A. Palumbo, R. Orlowski   +20 more
semanticscholar   +1 more source

Use of a hybrid intelligence decision tree to identify mature B‐cell neoplasms

Cytometry Part B: Clinical Cytometry, EarlyView., 2023
Abstract Background Mature B‐cell neoplasms are challenging to diagnose due to their heterogeneity and overlapping clinical and biological features. In this study, we present a new workflow strategy that leverages a large amount of flow cytometry data and an artificial intelligence approach to classify these neoplasms. Methods By combining mathematical
Inès Vergnolle, Theo Ceccomarini, Alban Canali, Jean‐Baptiste Rieu, François Vergez   +4 more
wiley   +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

The Prognostic Role of Cytogenetics Analysis in Philadelphia Negative Myeloproliferative Neoplasms

Medicina, 2021
Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterized collectively by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. Although the natural history of these neoplasms can be
Giuseppe Lanzarone, Matteo Olivi
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

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

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