Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…A series of treatments, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed. …”
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A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia by Subit Barua, Vundavalli V. Murty, Alejandro Iglesias, Jun Liao

“…Method We performed karyotype, FISH, chromosomal microarray, and exome sequencing with probands bone marrow, blood, and buccal swab. …”
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SINGLE NUCLEOTIDE POLYMORPHISMS IN BREAST TUMOR AND EXPRESSION OF ABC-TRANSPORTERS AFTER NEOADJUVANT CHEMOTHERAPY by M. M. Tsyganov, M. K. Ibragimova, E. M. Slonimskaya, N. V. Cherdyntseva, N. V. Litviakov

“…Using a quantitative Real-time PCR, the expression of 4 multidrug resistence (MDR) genes (ABCB1, ABCC1, ABCC2, ABCG2) was studied in surgical samples after NAC. Microarray analysis was performed using high density DNA microarrays, which contain more than 750.000 SNPs. …”
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BIMSSA: enhancing cancer prediction with salp swarm optimization and ensemble machine learning approaches by Pinakshi Panda, Sukant Kishoro Bisoy, Amrutanshu Panigrahi, Abhilash Pati, Bibhuprasad Sahu, Zheshan Guo, Haipeng Liu, Prince Jain

“…The BIMSSA model implements a pipelined feature selection method to effectively handle high-dimensional microarray data. …”
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Search for polymorphic variants of candidate genes contributing to individual radiosensitivity by D. S. Isubakova, N. V. Litviakov, O. S. Tsymbal, T. V. Usova, M. Yu. Tsyplenkova, I. V. Milto, R. M. Takhauov

“…DNA was genotyped using 257 SNPs of cyclin genes and neighboring intergenic regions using DNA microarrays from the high-density CytoScan HD Array (Affymetrix, USA).Results. …”
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Vision and development in Trichoderma atroviride by Casas S, Cortes C, Rios M, Rosales T, Bibbins M, Olmedo V, Herrera-Estrella A

“…This unigene set was printed in microarrays and used to search for light induced genes. …”
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MTAP deficiency is highly homogeneous in advanced, muscle-invasive urothelial carcinoma of the urinary bladder by Natalia Gorbokon, Katharina Teljuk, Viktor Reiswich, Florian Lutz, Sebastian Dwertmann Rico, Clara Lühr, Christian Bernreuther, Yaryna Klos Al Bunni, Cosima Völkel, Henning Plage, Maximilian Lennartz, Margit Fisch, Sarah Minner, Ronald Simon, Guido Sauter, Henrik Zecha, Stefan Steurer, Thorsten Schlomm, Tatjana Vlajnic, Lukas Bubendorf, Michael Rink, Martina Kluth, Florian Viehweger, Morton Freytag

“…MTAP IHC is a near perfect surrogate for the detection of homozygous 9p21 (MTAP) deletions. Drugs targeting MTAP deficiency could be highly useful in a relevant subset of invasive urothelial bladder cancers.…”
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In-depth immunochemical characterization of the serum antibody response using a dual-titration microspot assay by Ágnes Kovács, Ágnes Kovács, Zoltán Hérincs, Krisztián Papp, Jakub Zbigniew Kaczmarek, Daniel Nyberg Larsen, Daniel Nyberg Larsen, Pernille Stage, László Bereczki, Eszter Ujhelyi, Tamás Pfeil, Tamás Pfeil, József Prechl

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Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report by Ke Yuan, Minfei He, Yanlan Fang, Jianfang Zhu, Li Liang, Chunlin Wang

“…Clinical evaluation, hormonal tests, abdominal ultrasonography, and chromosome karyotyping were performed. Chromosome microarray analysis (CMA) was also performed to detect DNA copy number changes. …”
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Systematic analysis of co-expression network and gene expression profile of differentially expressed lncRNA-mRNA one week after spinal cord injury by Yi Kang, Yijie Song, Zhongju Shi, Qiang Li, Yigang Lv, Mengfan Hou, Cui Ding, Jing Xie, Yongfu Lou, Chi Zhang, Huan Jian, Xueying Li, Hengxing Zhou, Shiqing Feng

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The involvement of the synaptic vesicle cycle in homocysteine induced neurotoxicity in vitro and in vivo by Meng Wang, Xiaoshan Liang, Keqing Jin, Yinyue Liu, Suhui Luo, Qiang Zhang, Xuan Wang, Zhiping Dong, Xumei zhang

“…Pathological damage and apoptosis were detected in the DG, CA3, and CA1 regions of the hippocampus, along with the cortical area. …”
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Integrative in Silico and in vitro validation suggest LINC00963 and SNHG15 as candidate biomarkers for coronary artery disease by Mohammadreza Saberiyan, Parisa Noorabadi, Ozra Kahourian, Ahmad Golestanifar, Negar Jafari, Venus Shahabi Rabori, Pegah Mousavi

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Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of... by Rina Kansal

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Structure preserving t-SNE of matrix framed data by Soohyun Ahn, Johan Lim, Wei Jiang, Sungim Lee, Xinlei Wang

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Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis by Yu-Ming Chang, Yen-Ta Huang, Pei-Chun Lai

“…Abstract Background Identifying the genetic causes of neurodevelopmental disorders (NDDs) and epilepsy is crucial for effective treatment and genetic counseling. Our objective was to determine the diagnostic yield of chromosomal microarray (CMA) and next-generation sequencing (NGS) methods—including targeted sequencing (TS), whole-exome sequencing (WES), and whole-genome sequencing (WGS)—in individuals with NDDs or epilepsy. …”
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First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

“…Here, we report the first African case of HDR syndrome to be confirmed by chromosomal microarray analysis (CMA). Case presentation A 3-month-old female presented with focal seizures due to severe hypocalcaemia associated with low parathyroid hormone. …”
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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

“…In this article, we report a novel deletion compound combined with a causative variant in WDR35 gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.MethodsThis study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES. …”
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Identification of three small nucleolar RNAs (snoRNAs) as potential prognostic markers in diffuse large B‐cell lymphoma by Mei‐wei Li, Feng‐xiang Huang, Zu‐cheng Xie, Hao‐yuan Hong, Qing‐yuan Xu, Zhi‐gang Peng

“…Results Twelve prognosis‐correlated snoRNAs were selected from the DLBCL patient cohort of microarray profiles, and a three‐snoRNA signature consisting of SNORD1A, SNORA60, and SNORA66 was constructed. …”
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Serum profiling of the antibody response to HPV in women with or without abnormal cervical cytology undergoing cervical cancer screening by Radwa Ewaisha, Mack T. Ruffin, Stacy Williams, Yunro Chung, Yunro Chung, Cecilia R. DeGraffinreid, Electra D. Paskett, Electra D. Paskett, Paul L. Reiter, Ji Qiu, Dean E. Brenner, Karen S. Anderson

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Evaluating the Nuclear Reaction Optimization (NRO) Algorithm for Gene Selection in Cancer Classification by Shahad Alkamli, Hala Alshamlan

“…This complexity necessitates advanced optimization methods for effective gene selection. <b>Methods</b>: This study introduces and evaluates the Nuclear Reaction Optimization (NRO)—drawing inspiration from nuclear fission and fusion—for identifying informative gene subsets in six benchmark cancer microarray datasets. …”
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