Results 11 to 20 of about 18,361 (285)

Identification of gross deletions in FBN1 gene by MLPA [PDF]

Human Genomics, 2018
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing ...
Hang Yang, Yanyun Ma, M. Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu, Zhou Zhou   +10 more
semanticscholar   +4 more sources

ProSeeK: A web server for MLPA probe design [PDF]

BMC Genomics, 2008
Background The technological evolution of platforms for detecting genome-wide copy number imbalances has allowed the discovery of an unexpected amount of human sequence that is variable in copy number among individuals.
Villatoro Sergi, Armengol Lluís, Pantano Lorena, Estivill Xavier   +3 more
doaj   +3 more sources

Rapid screening for chromosomal aneuploidies using array-MLPA [PDF]

BMC Medical Genetics, 2011
Background Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of
van Beuningen Rinie, Mommersteeg Monique, Huang Ying, Ren Zhao-Rui, Zhou Da-Wen, Xiong Can, Xu Miao, Yan Jing-Bin, Wang Ying-Tai, Liao Shi-Xiu, Zeng Fanyi, Wu Ying, Zeng Yi-Tao   +12 more
doaj   +3 more sources

Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA

Scientific Reports, 2021
The characteristics of IDH-wild-type lower-grade astrocytoma remain unclear. According to cIMPACT-NOW update 3, IDH-wild-type astrocytomas with any of the following factors show poor prognosis: combination of chromosome 7 gain and 10 loss (+ 7/− 10), and/
Yasuhide Makino, Y. Arakawa, E. Yoshioka, T. Shofuda, T. Kawauchi, Yukinori Terada, Masahiro Tanji, D. Kanematsu, Y. Mineharu, S. Miyamoto, Y. Kanemura   +10 more
semanticscholar   +1 more source

MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2021
AIMS The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common ...
Andrea Štefeková, P. Capkova, Z. Capkova, V. Curtisová, J. Srovnal, Enkhjargalan Mracka, E. Klásková, M. Procházka   +7 more
semanticscholar   +1 more source

A review of molecular biology detection methods for human adenovirus

AIMS Biophysics, 2023
In humans particularly in children, adenovirus is one of the most common viruses that cause respiratory illnesses. Knowing how to detect adenovirus proficiently and rapidly will help reinforce surveillance of adenovirus infections, detect epidemic ...
Neelabh Datta
doaj   +1 more source

Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics [PDF]

Hematology, 2013
Christopher Konialis, Suvi Savola, Sophia Karapanou, Aggeliki Markaki, Maria M. Karabela, Sophia Polychronopoulou, Maria Ampatzidou, Michael Voulgarelis, Nora‐Athina Viniou, Eleni Variami, Argyro Koumarianou, Katerina Zoi, Birgitta Hagnefelt, Jan P. Schouten, Constantinos Pángalos   +14 more
openalex   +2 more sources

Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience

Radiology and Oncology, 2021
IKZF1 gene deletions have been identified as a poor prognostic factor in pediatric B-cell acute lymphoblastic leukemia (B-ALL), especially in the presence of co-occurring deletions (IKZF1plus profile). This study aimed to determine the frequency of IKZF1
Crepinsek Klementina, Marinsek Gasper, Kavcic Marko, Prelog Tomaž, Kitanovski Lidija, Jazbec Janez, Debeljak Marusa   +6 more
doaj   +1 more source

Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India

Journal of Family Medicine and Primary Care, 2022
Introduction: Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene (SMN1) located on chromosome 5q13.2. It is the most common hereditary cause of neonatal death.
Anupriya Kaur, Anu Kumari, Anit Kaur, Riya Sharma, Priyanka Srivastava, Renu Suthar   +5 more
doaj   +1 more source

Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

Annals of Indian Academy of Neurology, 2020
Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females.
Semra Gursoy, Esra Ataman, Bahar Toklu Baysal, Berk Özyılmaz, Pınar Gençpınar, Ayşe Semra Hız, Uluç Yiş, Aycan Ünalp, Nihal Olgaç Dündar, Ayfer Ülgenalp, Derya Erçal   +10 more
doaj   +1 more source