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    Academic Journals

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• Mitochondrial DNA Copy Number and Risk of Oral Cancer: A Report from Northeast India

  Authors:Rosy Mondal, Sankar Kumar Ghosh, Javed Hussain Choudhury, Anil Seram, Kavita Sinha, Marine Hussain, et al.From:PLoS ONE (Vol. 8, Issue 3) Peer-Reviewed

  Mar. 4, 20135,751 words Report 1510LAuthor(s): Rosy Mondal, Sankar Kumar Ghosh * , Javed Hussain Choudhury, Anil Seram, Kavita Sinha, Marine Hussain, Ruhina Shirin Laskar, Bijuli Rabha, Pradip Dey, Sabitri Ganguli, Monisha NathChoudhury, Fazlur Rahman...

• Copy number variation of UGT 2B genes in Indian families using whole genome scans

  Authors:Avinash M. Veerappa, Prakash Padakannaya, and Nallur B. RamachandraFrom:Journal of Nucleic AcidsPeer-Reviewed

  Annual 20163,425 words Report 1410LBackground and Objectives. Uridine diphospho-glucuronosyltransferase 2B (UGT2B) is a family of genes involved in metabolizing steroid hormones and several other xenobiotics. These UGT2B genes are highly polymorphic in...

• Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

  Authors:Kyleen Luhrs, Tracey Ward, Caitlin M. Hudac, Jennifer Gerdts, Holly A. F. Stessman, Evan E. Eichler, et al.From:Autism Research and Treatment (Vol. 2017) Peer-Reviewed

  Annual 20175,294 words Report 1630LThe purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting...

• Differences in AMY1 Gene Copy Numbers Derived from Blood, Buccal Cells and Saliva Using Quantitative and Droplet Digital PCR Methods: Flagging the Pitfall

  Authors:Delicia Shu Qin Ooi, Verena Ming Hui Tan, Siong Gim Ong, Yiong Huak Chan, Chew Kiat Heng, and Yung Seng LeeFrom:PLoS ONE (Vol. 12, Issue 1) Peer-Reviewed

  Jan. 26, 20175,989 words Report 1550LIntroduction The human salivary (AMY1) gene, encoding salivary [alpha]-amylase, has variable copy number variants (CNVs) in the human genome. We aimed to determine if real-time quantitative polymerase chain reaction...

• Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

  Authors:Viviane Neri de Souza Reis, Joao Paulo Kitajima, Ana Carolina Tahira, Ana Cecilia Feio-dos-Santos, Rodrigo Ambrosio Fock, Bianca Cristina Garcia Lisboa, et al.From:PLoS ONE (Vol. 12, Issue 1) Peer-Reviewed

  Jan. 24, 20179,184 words Author abstract 1540LIt has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD...

• Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA

  Authors:Hongtai Liu, Ya Gao, Zhiyang Hu, Linhua Lin, Xuyang Yin, Jun Wang, et al.From:PLoS ONE (Vol. 11, Issue 7) Peer-Reviewed

  July 14, 20163,787 words Report 1480LObjectives The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method. Method...

• Determination of absolute expression profiles using multiplexed miRNA analysis

  Authors:Yunke Song, Duncan Kilburn, Jee Hoon Song, Yulan Cheng, Christopher T. Saeui, Douglas G. Cheung, et al.From:PLoS ONE (Vol. 12, Issue 7) Peer-Reviewed

  July 13, 20178,683 words Report 1520LAccurate measurement of miRNA expression is critical to understanding their role in gene expression as well as their application as disease biomarkers. Correct identification of changes in miRNA expression rests on...

• In silico identification of conserved miRNAs and their selective target gene prediction in indicine (Bos indicus) cattle

  Authors:Quratulain Hanif, Muhammad Farooq, Imran Amin, Shahid Mansoor, Yi Zhang, and Qaiser Mahmood KhanFrom:PLoS ONE (Vol. 13, Issue 10) Peer-Reviewed

  Oct. 26, 20187,676 words Report 1500LThe modern cattle was domesticated from aurochs, sharing its physiological traits into two subspecies Bos taurus and Bos indicus. MicroRNAs (miRNAs) are a class of non-coding short RNAs of ~22nt which have a key role in...

• Molecular comparison of pure ovarian fibroma with serous benign ovarian tumours

  Authors:Sally M. Hunter, Genevieve V. Dall, Maria A. Doyle, Richard Lupat, Jason Li, Prue Allan, et al.From:BMC Research Notes (Vol. 13, Issue 1) Peer-Reviewed

  July 22, 20203,106 words Report 1550LAuthor(s): Sally M. Hunter1 , Genevieve V. Dall 1 , Maria A. Doyle2 , Richard Lupat 2 , Jason Li2 , Prue Allan 3 , Simone M. Rowley1 , David Bowtell1,4,5 , On behalf of AOCS , Ian G. Campbell1,4,5 and Kylie L. Gorringe...

• Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans

  Authors:Juwon Kim, Soo-Youn Lee, and Kyung-A LeeFrom:Pharmacogenomics (Vol. 13, Issue 8) Peer-Reviewed

  June 20125,592 words Report 1530LAuthor(s): Juwon Kim 1 , Soo-Youn Lee 2 , Kyung-A Lee [*] 3 KEYWORDS : CYP2D6 gene; genotyping; multiplex ligation-dependent probe amplification CYP2D6 (OMIM124030; NG_008376.1; NM 00106.4; 22q13.2; GenBank...

• Specific Genomic Regions Are Differentially Affected by Copy Number Alterations across Distinct Cancer Types, in Aggregated Cytogenetic Data

  Authors:Nitin Kumar, Haoyang Cai, Christian von Mering, and Michael BaudisFrom:PLoS ONE (Vol. 7, Issue 8) Peer-Reviewed

  Aug. 24, 20125,219 words Report 1530LAuthor(s): Nitin Kumar 1 , 2 , Haoyang Cai 1 , 2 , Christian von Mering 1 , 2 , * , Michael Baudis 1 , 2 , * Introduction Genetic changes such as point mutations, regional copy number alterations/aberrations (CNA)...

• aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations

  Authors:Victor Renault, Jorg Tost, Fabien Pichon, Shu-Fang Wang-Renault, Eric Letouze, Sandrine Imbeaud, et al.From:PLoS ONE (Vol. 12, Issue 12) Peer-Reviewed

  Dec. 19, 20176,404 words Report 1620LMotivation Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the...

• Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism

  Authors:Brian L. Gudenas, Anand K. Srivastava, and Liangjiang WangFrom:PLoS ONE (Vol. 12, Issue 5) Peer-Reviewed

  May 31, 20176,127 words Report 1650LGenetic studies have identified many risk loci for autism spectrum disorder (ASD) although causal factors in the majority of cases are still unknown. Currently, known ASD risk genes are all protein-coding genes;...

• Copy number variations and founder effect underlying complete IL-10R[beta] deficiency in Portuguese kindreds

  Authors:Fabienne Charbit-Henrion, Bernadette Begue, Anais Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, et al.From:PLoS ONE (Vol. 13, Issue 10) Peer-Reviewed

  Oct. 26, 20185,321 words Report 1430LMutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional...

• A Robust Protocol for Using Multiplexed Droplet Digital PCR to Quantify Somatic Copy Number Alterations in Clinical Tissue Specimens

  Authors:Curtis B. Hughesman, X. J. David Lu, Kelly Y. P. Liu, Yuqi Zhu, Catherine F. Poh, and Charles HaynesFrom:PLoS ONE (Vol. 11, Issue 8) Peer-Reviewed

  Aug. 18, 201610,980 words Article 1720LThe ability of droplet digital PCR (ddPCR) to accurately determine the concentrations of amplifiable targets makes it a promising platform for measuring copy number alterations (CNAs) in genomic biomarkers. However, its...

• The copy number variation and stroke (CaNVAS) risk and outcome study.

  Authors:John W. Cole, Taiwo Adigun, Rufus Akinyemi, Onoja Matthew Akpa, Steven Bell, Bowang Chen, et al.From:PLoS ONE (Vol. 16, Issue 4) Peer-Reviewed

  Apr. 19, 202111,814 words Report 1570LBackground and purpose The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this...

• Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study

  Authors:Joanna Nowacka-Woszuk, Izabela Szczerbal, Monika Stachowiak, Maciej Szydlowski, Wojciech Nizanski, Stanislaw Dzimira, et al.From:PLoS ONE (Vol. 14, Issue 6) Peer-Reviewed

  June 20, 20195,127 words Report 1370LTesticular or ovotesticular disorders of sex development (DSD) in individuals with female karyotype (XX) lacking the SRY gene has been observed in several mammalian species, including dogs. A genetic background for this...

• A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity

  Authors:Sandra J. Hasstedt, Yuanpei Xin, Rong Mao, Tracey Lewis, Ted D. Adams, and Steven C. HuntFrom:Journal of ObesityPeer-Reviewed

  Annual 20164,396 words Report 1430LBackground/Objectives. To identify copy number variants (CNVs) which are associated with body mass index (BMI). Subjects/Methods. CNVs were identified using array comparative genomic hybridization (aCGH) on members of...

• The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

  Authors:Anna Materna-Kiryluk, Krzysztof Kiryluk, Katelyn E. Burgess, Arkadiusz Bieleninik, Simone Sanna-Cherchi, Ali G. Gharavi, et al.From:Pediatric Nephrology (Vol. 29, Issue 2) Peer-Reviewed

  Feb. 20146,475 words Report 1510LBackground Copy number variants (CNVs) are increasingly recognized as an important cause of congenital malformations and likely explain over 16% of cases of congenital anomalies of the kidney and urinary tract (CAKUT)....

• High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons

  Authors:Francesca Cavallo, Flavia Troglio, Giovanni Faga, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, et al.From:Molecular Autism (Vol. 11, Issue 1) Peer-Reviewed

  Nov. 19, 20208,567 words Report 1670LBackground Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition affecting almost 1% of children, and represents a major unmet medical need with no effective drug treatment available....