Results 41 to 50 of about 18,361 (285)

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

International Journal of General Medicine, 2021
Diana Miclea,1,2 Adriana Szucs,1,2 Andreea Mirea,1,2 Delia-Maria Stefan,1,2 Florina Nazarie,1,2 Simona Bucerzan,2,3 Cecilia Lazea,2,3 Alina Grama,2,3 Tudor Lucian Pop,2,3 Marius Farcas,4 Gabriela Zaharie,3,4 Melinda Matyas,3,4 Monica Mager Snr,2,3 ...
Miclea D, Szucs A, Mirea AM, Stefan DM, Nazarie F, Bucerzan S, Lazea C, Grama A, Pop TL, Farcas M, Zaharie G, Matyas M, Mager Snr M, Vintan M, Popp R, Alkhzouz C   +15 more
doaj  

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

BMC Medical Genetics, 2017
BackgroundDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study ...
S. Deepha, S. Vengalil, V. Preethish-Kumar, K. Polavarapu, A. Nalini, N. Gayathri, M. Purushottam   +6 more
semanticscholar   +1 more source

Detection, analysis and clinical validation of chromosomal aberrations by multiplex ligation-dependent probe amplification in chronic leukemia. [PDF]

PLoS ONE, 2010
Current diagnostic screening strategies based on karyotyping or fluorescent in situ hybridization (FISH) for detection of chromosomal abnormalities in chronic lymphocytic leukemia (CLL) are laborious, time-consuming, costly, and have limitations in ...
Adam Abdool, Amber C Donahue, Jay G Wohlgemuth, Chen-Hsiung Yeh   +3 more
doaj   +1 more source

Prevalence of Nucleotide Alterations of EGFR Gene in Patients with Esophageal Squamous Cell Carcinoma in Kerman [PDF]

Journal of Kerman University of Medical Sciences, 2012
Background & Aims: Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for 95% of esophageal cancer. The expression of EGFR has a role in the pathophysiology of epidermal-based malignancies such as esophageal ...
M.R Lashkarizadeh, M.R Bazrafshani, M Aghaei-Afshar, Neda Zahiri, S Dehghan-Kohestani   +4 more
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FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME

Медицинская иммунология, 2017
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
I. A. Tuzankina, S. S. Deryabina, E. V. Vlasova, M. A. Bolkov   +3 more
doaj   +1 more source

MLPA-Based Analysis of Copy Number Variation in Plant Populations

Frontiers in Plant Science, 2017
Copy number variants (CNVs) are intraspecies duplications/deletions of large DNA segments (>1 kb). A growing number of reports highlight the functional and evolutionary impact of CNV in plants, increasing the need for appropriate tools that enable locus ...
A. Samelak-Czajka, Małgorzata Marszałek-Zeńczak, M. Marcinkowska-Swojak, P. Kozłowski, M. Figlerowicz, A. Zmienko   +5 more
semanticscholar   +1 more source

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays

BMC Genomics, 2008
Background Multiplex ligation-dependent probe amplification (MLPA) is an efficient and reliable technique for gene dosage analysis. Currently MLPA can be conducted on two platforms: traditional electrophoresis-based, and FlexMAP bead-coupled.
Hatchwell Eli, Zhi Jizu
doaj   +1 more source

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

The Application of Clinical Genetics, 2021
Paula Triana-Fonseca,1 Juan Fernando Parada-Márquez,1 Claudia T Silva-Aldana,2 Daniela Zambrano-Arenas,1 Laura Lucia Arias-Gomez,2 Natalia Morales-Fonseca,3 Esteban Medina-Méndez,2 Carlos M Restrepo,4 Daniel Felipe Silgado-Guzmán,2 Dora Janeth Fonseca ...
Triana-Fonseca P, Parada-Márquez JF, Silva-Aldana CT, Zambrano-Arenas D, Arias-Gomez LL, Morales-Fonseca N, Medina-Méndez E, Restrepo CM, Silgado-Guzmán DF, Fonseca-Mendoza DJ   +9 more
doaj  

MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays

BMC Research Notes, 2010
Background Multiplex ligation-dependent probe amplification (MLPA) was originally described as an efficient and reliable technique for gene dosage or DNA copy number variation (CNV) analysis.
Zhi Jizu
doaj   +1 more source

Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified

eNeurologicalSci, 2023
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) constitute the second most prevalent muscular dystrophy, with large deletions or duplications accounting for 66% of cases. No effective treatment exists for DMD/BMD.
MohammadKazem Bakhshandeh, Samira Behroozi   +1 more
doaj   +1 more source