Browsing by Author "Shen, Yiping"
Now showing items 1-12 of 12
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Autistic Children Exhibit Decreased Levels of Essential Fatty Acids in Red Blood Cells
Brigandi, Sarah A.; Shao, Hong; Qian, Steven Y.; Shen, Yiping; Wu, Bai-Lin; Kang, Jing X. (MDPI, 2015)Omega-6 (n-6) and omega-3 (n-3) polyunsaturated fatty acids (PUFA) are essential nutrients for brain development and function. However, whether or not the levels of these fatty acids are altered in individuals with autism ... -
Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes
Bennett, Richard R; Schneider, Hal E; Estrella, Elicia; Burgess, Stephanie; Cheng, Andrew S; Barrett, Caitlin; Lip, Va; Lai, Poh San; Shen, Yiping; Wu, Bai-Lin; Darras, Basil T.; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2009)Background: One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual ... -
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
Geng, Juan; Picker, Jonathan; Zheng, Zhaojing; Zhang, Xiaoqing; Wang, Jian; Hisama, Fuki; Brown, David W; Mullen, Mary P; Harris, David; Stoler, Joan; Seman, Ann; Miller, David T; Fu, Qihua; Roberts, Amy E; Shen, Yiping (BioMed Central, 2014)Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely ... -
Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
Chen, Rongyu; Li, Chuan; Xie, Bobo; Wang, Jin; Fan, Xin; Luo, Jingsi; Hu, Xuyun; Chen, Shaoke; Shen, Yiping (BioMed Central, 2014)11qter trisomy is rare, mostly occurs in combination with partial monosomy of a terminal segment of another chromosome due to unbalanced segregation of parental translocations. Pure 11qter trisomy is rarer, only five cases ... -
Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration
Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ... -
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
An, Yu; Duan, Wenyuan; Huang, Guoying; Chen, Xiaoli; Li, Li; Nie, Chenxia; Hou, Jia; Gui, Yonghao; Wu, Yiming; Zhang, Feng; Shen, Yiping; Wu, Bailin; Wang, Hongyan (BioMed Central, 2016)Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number ... -
Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas
Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ... -
LIN28 Is Involved in Glioma Carcinogenesis and Predicts Outcomes of Glioblastoma Multiforme Patients
Qin, Rong; Zhou, Jingxu; Chen, Chao; Xu, Tao; Yan, Yong; Ma, Yushui; Zheng, Zongli; Shen, Yiping; Lu, Yicheng; Fu, Da; Chen, Juxiang (Public Library of Science, 2014)LIN28, an evolutionarily conversed RNA binding protein which can bind to the terminal loops of let-7 family microRNA precursors and block their processing to maturation, is highly expressed in several subsets of tumors ... -
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
Zhang, Shujie; Qin, Haisong; Wang, Jin; OuYang, Luping; Luo, Shiyu; Fu, Chunyun; Fan, Xin; Su, Jiasun; Chen, Rongyu; Xie, Bobo; Hu, Xuyun; Chen, Shaoke; Shen, Yiping (BioMed Central, 2016)Background: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have ... -
The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Ha, Kyungsoo; Shen, Yiping; Graves, Tyler; Kim, Cheol-Hee; Kim, Hyung-Goo (BioMed Central, 2016)Background: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial ... -
Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks
Chen, Xiaoli; Wang, Jun; Mitchell, Elyse; Guo, Jin; Wang, Liwen; Zhang, Yu; Hodge, Jennelle C; Shen, Yiping (BioMed Central, 2014)Background: Human endogenous retroviral (HERV) sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV ... -
Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy
Biffi, Alessandro; Plourde, Anna; Shen, Yiping; Onofrio, Robert; Smith, Eric E.; Frosch, Matthew P.; Prada, Claudia M.; Gusella, James Francis; Greenberg, Steven Mark; Rosand, Jonathan (Public Library of Science, 2010)Background: Advances in genetic technology have revealed that variation in the same gene can cause both rare familial and common sporadic forms of the same disease. Cerebral amyloid angiopathy (CAA), a common cause of ...