Výsledky vyhledávání - "Genetic Testing - methods"

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Autor Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas

“…%) with effective treatments. Simulated NBS-rWGS in 454,707 UK Biobank subjects with 29,865 pathogenic or likely pathogenic variants associated with 388 disorders had a true…”
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Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 Autor Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B, Lee, Ming K, Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat

“…In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer…”
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines Autor Lunenburg, Carin A T C, van der Wouden, Cathelijne H, Nijenhuis, Marga, Crommentuijn-van Rhenen, Mandy H, de Boer-Veger, Nienke J, Buunk, Anne Marie, Houwink, Elisa J F, Mulder, Hans, Rongen, Gerard A, van Schaik, Ron H N, van der Weide, Jan, Wilffert, Bob, Deneer, Vera H M, Swen, Jesse J, Guchelaar, Henk-Jan

“…Despite advances in the field of pharmacogenetics (PGx), clinical acceptance has remained limited. The Dutch Pharmacogenetics Working Group (DPWG) aims to…”
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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies Autor Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin

“… We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods…”
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Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis Autor Sharp, Seth A, Rich, Stephen S, Wood, Andrew R, Jones, Samuel E, Beaumont, Robin N, Harrison, James W, Schneider, Darius A, Locke, Jonathan M, Tyrrell, Jess, Weedon, Michael N, Hagopian, William A, Oram, Richard A

“… In 6,481 case and 9,247 control subjects from the Type 1 Diabetes Genetics Consortium, we analyzed variants associated with T1D both in the HLA region and across the genome…”
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In vivo imaging of human cone photoreceptor inner segments Autor Scoles, Drew, Sulai, Yusufu N, Langlo, Christopher S, Fishman, Gerald A, Curcio, Christine A, Carroll, Joseph, Dubra, Alfredo

“…) differential phase technique, that we termed nonconfocal split-detector, in two healthy subjects and four subjects with achromatopsia…”
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants Autor Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R

“…Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A…”
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Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization Autor Hicks, J Kevin, Swen, Jesse J, Gaedigk, Andrea

“…The cytochrome P450 2D6 (CYP2D6) enzyme contributes to the metabolism and/or bioactivation of approximately 25% of clinically used drugs. The CYP2D6 gene locus…”
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IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study Autor Barad, D H, Albertini, D F, Molinari, E, Gleicher, N

“…What are the outcomes for patients who choose to move embryos diagnosed as abnormal by preimplantation genetic testing for aneuploidy (PGT-A) to a new…”
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One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study Autor Nunziato, Marcella, Starnone, Flavio, Giordano, Sonia, D'Antonio, Marcella, Scognamiglio, Domenico, Esposito, Maria Valeria, Correra, Antonio, Di Maggio, Federica, D'Argenio, Valeria, Luca Scaglione, Giovanni, Castaldo, Giuseppe, Salvatore, Francesco

“…Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by…”
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Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study Autor Galimberti, Daniela, Fumagalli, Giorgio G., Fenoglio, Chiara, Cioffi, Sara M.G., Arighi, Andrea, Serpente, Maria, Borroni, Barbara, Padovani, Alessandro, Tagliavini, Fabrizio, Masellis, Mario, Tartaglia, Maria Carmela, van Swieten, John, Meeter, Lieke, Graff, Caroline, de Mendonça, Alexandre, Bocchetta, Martina, Rohrer, Jonathan D., Scarpini, Elio, Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Binetti, Giuliano, Black, Sandra, Cash, David, Cosseddu, Maura, Dick, Katrina M., Fallström, Marie, Ferreira, Carlos, Finger, Elizabeth, Fox, Nick, Freedman, Morris, Frisoni, Giovanni, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Laforce, Robert, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Meeter, Lieke, van Minkelen, Rick, Nacmias, Benedetta, Öijerstedt, Linn, Ourselin, Sebastien, Panman, Jessica, Pievani, Michela, Polito, Cristina, Prioni, Sara, Rademakers, Rosa, Redaelli, Veronica, Rogaeva, Ekaterina, Rossi, Giacomina, Besta, Carlo, Rossor, Martin, Rowe, James, Sorbi, Sandro, Tang-Wai, David, Thomas, David L., Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason

“…We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in…”
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Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing Autor Alteri, Alessandra, Cermisoni, Greta Chiara, Pozzoni, Mirko, Gaeta, Gerarda, Cavoretto, Paolo Ivo, Viganò, Paola

“… Signs of cell injury have been described in association with this procedure. Thus, the consequences of the biopsy on obstetric and neonatal outcomes have been the subject…”
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A systematic review and meta-analysis of double trophectoderm biopsy and/or cryopreservation in PGT: balancing the need for a diagnosis against the risk of harm Autor Li Piani, Letizia, Petrone, Pasquale, Brutto, Mariafrancesca, De Vos, Anick, Van Der Kelen, Annelore, Vaiarelli, Alberto, Rienzi, Laura, Conforti, Alessandro, Cimadomo, Danilo, Verpoest, Willem

“…To prevent the transfer of embryos affected by monogenic conditions and/or chromosomal defects, preimplantation genetic testing (PGT) requires trophectoderm…”
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Genotype–phenotype associations among panel-based TP53+ subjects Autor Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.

“… + panel-ascertained subjects. Methods Between 2012 and 2017, 317 TP53 + subjects (279 females and 38 males…”
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Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies Autor Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M., Liu, Q., Tian, Z., Zhang, H., Chen, F., Lau, T. K., Zhao, L., Yi, X., Yin, Y., Wang, W.

“…ABSTRACT Objectives To report the clinical performance of massively parallel sequencing‐based non‐invasive prenatal testing (NIPT) in detecting trisomies 21,…”
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Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations Autor Capalbo, Antonio, de Wert, Guido, Mertes, Heidi, Klausner, Liraz, Coonen, Edith, Spinella, Francesca, Van de Velde, Hilde, Viville, Stephane, Sermon, Karen, Vermeulen, Nathalie, Lencz, Todd, Carmi, Shai

“…Abstract BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF) can be examined with preimplantation genetic testing (PGT)…”
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Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members Autor Saberniak, Jørg, Hasselberg, Nina E., Borgquist, Rasmus, Platonov, Pyotr G, Sarvari, Sebastian I., Smith, Hans-Jørgen, Ribe, Margareth, Holst, Anders G., Edvardsen, Thor, Haugaa, Kristina H.

“…Aims Exercise increases risk of ventricular arrhythmia in subjects with arrhythmogenic right ventricular cardiomyopathy (ARVC…”
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A genetic study of Wilson's disease in the United Kingdom Autor Coffey, Alison J, Durkie, Miranda, Hague, Stephen, McLay, Kirsten, Emmerson, Jennifer, Lo, Christine, Klaffke, Stefanie, Joyce, Christopher J, Dhawan, Anil, Hadzic, Nedim, Mieli-Vergani, Giorgina, Kirk, Richard, Elizabeth Allen, K, Nicholl, David, Wong, Siew, Griffiths, William, Smithson, Sarah, Giffin, Nicola, Taha, Ali, Connolly, Sally, Gillett, Godfrey T, Tanner, Stuart, Bonham, Jim, Sharrack, Basil, Palotie, Aarno, Rattray, Magnus, Dalton, Ann, Bandmann, Oliver

“…Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to…”
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Minimally invasive skin tape strip RNA sequencing identifies novel characteristics of the type 2–high atopic dermatitis disease endotype Autor Dyjack, Nathan, Goleva, Elena, Rios, Cydney, Kim, Byung Eui, Bin, Lianghua, Taylor, Patricia, Bronchick, Caroline, Hall, Clifton F., Richers, Brittany N., Seibold, Max A., Leung, Donald Y.M.

“… (18 male and 12 female patients; age [mean ± SE], 36.3 ± 2.2 years) and healthy control subjects…”
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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing Autor Rana, Huma Q, Gelman, Rebecca, LaDuca, Holly, McFarland, Rachel, Dalton, Emily, Thompson, Jennifer, Speare, Virginia, Dolinsky, Jill S, Chao, Elizabeth C, Garber, Judy E

“… 885 MGPT and 3201 SGT) met study eligibility criteria. Personal cancer histories were available for 38 938 subjects…”
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