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481“…Paramutation and transposon silencing are two epigenetic phenomena that have intrigued and puzzled geneticists for decades. Each involves heritable changes in gene activity without changes in DNA sequence. …”
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482“…To that end, the original PRF model is of particular interest for geneticists and evolutionary genomicists. In this article, we will provide a tutorial of the mathematical derivation of the original Sawyer and Hartl PRF model.…”
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483“…This phenomenon, termed interference, was first reported in the early 20(th) century by Drosophila geneticists and has been subsequently observed in a vast range of organisms from yeasts to humans. …”
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484por Arber, Werner“…Largely thanks to experimental investigations by microbial geneticists, we know today that several different molecular mechanisms contribute to the overall genetic variations. …”
Publicado 2011
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485por Pelegrino, Karla de Oliveira, Sugayama, Sofia, Catelani, Ana Lúcia, Lezirovitz, Karina, Kok, Fernando, Chauffaille, Maria de Lourdes“…The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. …”
Publicado 2013
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486“…Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. …”
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487por von Cräutlein, Maria, Korpelainen, Helena, Helander, Marjo, Öhberg, Annika, Saikkonen, Kari“…. • Conclusions: These polymorphic markers will be used by grass breeders for uses including the improvement of commercial turfgrass cultivars, and by population geneticists to study different species of the Epichloë genus.…”
Publicado 2014
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488“…Genetic counselors and geneticists should not only be aware of the burden of being a next of kin, but include discussions about opportunities to minimize the burden in families affected with DM. …”
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489“…However, the dissection of precise etiology of complex genetic disorders still poses a challenge for human geneticists. This review outlines the landmark results of genome-wide association studies (GWAS) with respect to major complex diseases — Coronary artery disease (CAD), type 2 diabetes mellitus (T2DM), and predominant cancers. …”
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490por Cuccaro, Denis, De Marco, Elvira Valeria, Cittadella, Rita, Cavallaro, Sebastiano“…Because of the exceedingly large number of studies performed, it has become difficult for geneticists as well as clinicians to systematically follow, evaluate, and interpret the growing number of (sometime conflicting) CNVs implicated in AD. …”
Publicado 2016
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491por Grandke, Fabian, Ranganathan, Soumya, van Bers, Nikkie, de Haan, Jorn R., Metzler, Dirk“…Linkage maps are used to locate associations between genes and traits by breeders and geneticists. Linkage map creation for polyploid species is not supported by standard tools. …”
Publicado 2017
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492por Harris, Rodney“…These factors have inevitably limited the implementation of many opportunities for improved patient care and the prevention of genetic disease. However, medical geneticists, assisted by the Royal College of Physicians and others, want to respond positively to the changes in the Health Service. …”
Publicado 1992
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493“…Understanding the mechanism of genetic mutations will benefit clinicians and human geneticists in future alternative treatment investigations.…”
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494por Wilson, Joanna, Matejusova, Iveta, McIntosh, Rebecca E., Carboni, Stefano, Bekaert, Michaël“…The development of diagnostic markers has been a long-standing interest of population geneticists as it allows clarification of taxonomic uncertainties. …”
Publicado 2018
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495por Kynes, J. Matthew, Blakely, Martin, Furman, Kevin, Burnette, William B., Modes, Katharina B.“…Given the spectrum of disease etiologies and manifestations, this is a population that often requires specialized multidisciplinary care from pediatricians, geneticists, neurologists, dieticians, and pulmonologists which must also be coordinated with surgeons and anesthesiologists when these patients present for surgery. …”
Publicado 2018
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496por Szczepek, Agnieszka J., Frejo, Lidia, Vona, Barbara, Trpchevska, Natalia, Cederroth, Christopher R., Caria, Helena, Lopez-Escamez, Jose A.“…CONCLUSIONS: These recommendations offer a basis to standardize and optimize collaborations between geneticists and healthcare practitioners specialized in tinnitus and hearing disorders.…”
Publicado 2019
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497por Zhang, Xuchao, Liang, Zhiyong, Wang, Shengyue, Lu, Shun, Song, Yong, Cheng, Ying, Ying, Jianming, Liu, Weiping, Hou, Yingyong, Li, Yangqiu, Liu, Yi, Hou, Jun, Liu, Xiufeng, Shao, Jianyong, Tai, Yanhong, Wang, Zheng, Fu, Li, Li, Hui, Zhou, Xiaojun, Bai, Hua, Wang, Mengzhao, Lu, You, Yang, Jinji, Zhong, Wenzhao, Zhou, Qing, Yang, Xuening, Wang, Jie, Huang, Cheng, Liu, Xiaoqing, Zhou, Xiaoyan, Zhang, Shirong, Tian, Hongxia, Chen, Yu, Ren, Ruibao, Liao, Ning, Wu, Chunyan, Zhu, Zhongzheng, Pan, Hongming, Gu, Yanhong, Wang, Liwei, Liu, Yunpeng, Zhang, Suzhan, Liu, Tianshu, Chen, Gong, Shao, Zhimin, Xu, Binghe, Zhang, Qingyuan, Xu, Ruihua, Shen, Lin, Wu, Yilong, Tumor Biomarker Committee, On behalf of Chinese Society of Clinical Oncology (CSCO)“…This group comprises an assembly of laboratory cancer geneticists, clinical oncologists, bioinformaticians, pathologists, and other professionals. …”
Publicado 2019
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498“…Schizophrenia is a debilitating psychiatric disorder with a complex genetic architecture and limited understanding of its neuropathology, reflected by the lack of diagnostic measures and effective pharmacological treatments. Geneticists have recently identified more than 145 risk loci comprising hundreds of common variants of small effect sizes, most of which lie in noncoding genomic regions. …”
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499“…To address this, recent years have seen a sharp spike in the number of splice prediction tools leveraging machine learning approaches, leaving clinical geneticists with a plethora of choices for in silico analysis. …”
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500por Marcus, Joseph H., Posth, Cosimo, Ringbauer, Harald, Lai, Luca, Skeates, Robin, Sidore, Carlo, Beckett, Jessica, Furtwängler, Anja, Olivieri, Anna, Chiang, Charleston W. K., Al-Asadi, Hussein, Dey, Kushal, Joseph, Tyler A., Liu, Chi-Chun, Der Sarkissian, Clio, Radzevičiūtė, Rita, Michel, Megan, Gradoli, Maria Giuseppina, Marongiu, Patrizia, Rubino, Salvatore, Mazzarello, Vittorio, Rovina, Daniela, La Fragola, Alessandra, Serra, Rita Maria, Bandiera, Pasquale, Bianucci, Raffaella, Pompianu, Elisa, Murgia, Clizia, Guirguis, Michele, Orquin, Rosana Pla, Tuross, Noreen, van Dommelen, Peter, Haak, Wolfgang, Reich, David, Schlessinger, David, Cucca, Francesco, Krause, Johannes, Novembre, John“…The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia’s genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. …”
Publicado 2020
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