Results 21 to 30 of about 18,361 (285)

Variability of CATCH-22 symptome complex within the framework of 22q11.2 deletion syndrome

Медицинская иммунология, 2021
Chromosomal pathology is one of the most common causes of congenital malformations. The CATCH-22 symptom complex is most often associated with a microdeletion of chromosome 22, upon detection of which it is customary to diagnose DiGeorge syndrome, a ...
D. A. Cheremokhin, S. S. Deryabina, I. A. Tuzankina, E. V. Vlasova, N. V. Nikitina, M. A. Bolkov   +5 more
doaj   +1 more source

COMPARISON BETWEEN MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) AND CYTOGENETICS FOR VALIDATION OF CHROMOSOMAL ABERRATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Recently, a multiplex ligation-dependent probe amplification (MLPA®) has emerged as a method that is reported to be fast, sensitive, and cost-effective that can detect copy number variation.
L Nardinelli, RR Giorgi, ARL Ruiz, AM Leal, PBF Pinotti, AMC Ferreira, EDRP Velloso, V Buccheri, V Rocha, I Bendit   +9 more
doaj   +1 more source

MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia

Scientific Reports, 2020
Aneuploidy occurs within a significant proportion of childhood B-cell acute lymphoblastic leukemia (B-ALL). Some copy number variations (CNV), associated with novel subtypes of childhood B-ALL, have prognostic significance. A total of 233 childhood B-ALL
Chih-Hsiang Yu, Tze-Kang Lin, S. Jou, Chien-Yu Lin, K. Lin, Meng-Yao Lu, Shu‐Huey Chen, Chao-Neng Cheng, Kang-Hsi Wu, Shih‐Chung Wang, Hsiu-Hao Chang, Meng‐Ju Li, Yu-Ling Ni, Yidi Su, D. Lin, Hsuan-Yu Chen, C. Harrison, Chia-Cheng Hung, Shu-Wha Lin, Yung‐Li Yang   +19 more
semanticscholar   +1 more source

Multi-Linear cryptanalysis in Power Analysis Attacks MLPA [PDF]

, 2009
Power analysis attacks against embedded secret key cryptosystems are widely studied since the seminal paper of Paul Kocher, Joshua Ja, and Benjamin Jun in 1998 where has been introduced the powerful Differential Power Analysis. The strength of DPA is such that it became necessary to develop sound and efficient countermeasures.
Thomas Roche, Cédric Tavernier
openalex   +3 more sources

Concordance of copy number abnormality detection using SNP arrays and Multiplex Ligation-dependent Probe Amplification (MLPA) in acute lymphoblastic leukaemia

Scientific Reports, 2020
In acute lymphoblastic leukaemia, MLPA has been used in research studies to identify clinically relevant copy number abnormality (CNA) profiles. However, in diagnostic settings other techniques are often employed.
M. Bashton, R. Hollis, S. Ryan, C. Schwab, J. Moppett, C. Harrison, A. Moorman, A. Enshaei   +7 more
semanticscholar   +1 more source

Multiplex Ligation-Dependent Probe Amplification for Simultaneous Detection of Six Allergenic Ingredients in Foods [PDF]

Shipin Kexue, 2023
A multiplex ligation-dependent probe amplification (MLPA) technique was developed for simultaneous detection of six food allergens: soy, sesame, peanut, almond, hazelnut and walnut.
WANG Mingqiu, LIU Yan, LI Shiyao, DONG Wanting, ZHANG Tao, LIN Jin, ZHU Biting, ZHANG Li
doaj   +1 more source

A Typology of Existing Machine Learning–Based Predictive Analytic Tools Focused on Reducing Costs and Improving Quality in Health Care: Systematic Search and Content Analysis

Journal of Medical Internet Research, 2021
BackgroundConsiderable effort has been devoted to the development of artificial intelligence, including machine learning–based predictive analytics (MLPA) for use in health care settings.
Ariadne A Nichol, Jason N Batten, Meghan C Halley, Julia K Axelrod, Pamela L Sankar, Mildred K Cho   +5 more
doaj   +1 more source

Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability

Romanian Journal of Laboratory Medicine, 2014
Dizabilitatea intelectuală (DI) este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită.
Sireteanu Adriana, Popescu Roxana, Braha Elena Emanuela, Bujoran Cornel, Butnariu Lăcrămioara, Caba Lavinia, Graur Elena, Gorduza Eusebiu Vlad, Grămescu Mihaela, Ivanov Iuliu Cristian, Pânzaru Monica, Rusu Cristina   +11 more
doaj   +1 more source

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next‐Generation Sequencing Combined with TBX1‐MLPA

Journal of Bone and Mineral Research, 2019
At least 15 candidate genes have been implicated in hypoparathyroidism (HP). However, comprehensive screening of causative genes for HP is lacking. Here, we investigated the genotype spectrum in a large group of Chinese patients with childhood onset HP ...
Yabing Wang, M. Nie, O. Wang, Yuepeng Li, Yan Jiang, Mei Li, W. Xia, X. Xing   +7 more
semanticscholar   +1 more source

Simultaneous FLT3, NPM1 and DNMT3A mutations in adult patients with acute myeloid leukemia – case study

Romanian Journal of Laboratory Medicine, 2019
Background: Nowadays, cytogenetics and molecular genetics, but not only, are mandatory in acute myeloid leukemia (AML) management, as a consequence of their impact on AML pathogenesis, classification, risk-stratification, prognosis and treatment ...
Tripon Florin, Crauciuc George Andrei, Moldovan Valeriu George, Bogliș Alina, Benedek István, Lázár Erzsébet, Bănescu Claudia   +6 more
doaj   +1 more source