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801por Shaffer, John R., Li, Jinxi, Lee, Myoung Keun, Roosenboom, Jasmien, Orlova, Ekaterina, Adhikari, Kaustabh, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, González-José, Rolando, Pfeffer, Paige E., Wollenschlaeger, Christopher A., Hecht, Jacqueline T., Wehby, George L., Moreno, Lina M., Ding, Anan, Jin, Li, Yang, Yajun, Carlson, Jenna C., Leslie, Elizabeth J., Feingold, Eleanor, Marazita, Mary L., Hinds, David A., Cox, Timothy C., Wang, Sijia, Ruiz-Linares, Andrés, Weinberg, Seth M.“…The genetic basis of earlobe attachment has been a matter of debate since the early 20(th) century, such that geneticists argue both for and against polygenic inheritance. …”
Publicado 2017
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802por Gjyshi, Olsi, Vashi, Pankaj, Seewald, Laura, Kohan, Mitra, Abboud, Elham, Fowler, Eric, Suppiah, Revathi, Halabi, Hatem“…We strongly recommend that an interdisciplinary team inclusive of clinical and surgical oncologists, along with geneticists, social work, and psychological support, should follow the patients in a longitudinal and comprehensive manner in order to achieve full recovery and return to normalcy, as with our patients.…”
Publicado 2018
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803por Tognetto, Alessia, Michelazzo, Maria Benedetta, Ricciardi, Walter, Federici, Antonio, Boccia, Stefania“…The aim of this study was to identify core competencies in genetics for non-geneticists, both physicians and non-physicians. METHODS: We performed a literature review by searching MEDLINE, SCOPUS, and ISI Web of Science databases to identify studies reporting competencies in genetics in terms of knowledge, attitudes and abilities for non-genetic healthcare professionals. …”
Publicado 2019
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804por Bakhuizen, J. J., Velthuizen, M. E., Stehouwer, S., Bleiker, E. M., Ausems, M. G.“…Fifty-seven professionals completed the questionnaire (response rate overall 54%, clinical geneticists 70%). Most respondents reported that they discuss the option of TP53 genetic testing—simultaneously with BRCA 1/2—during the initial counselling visit, especially in case of referral for treatment-focused genetic counselling. …”
Publicado 2018
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805“…Knowledge on the reproductive biology of cassava, relevant to breeders and molecular geneticists, is still limited. Therefore, different studies were carried out to determine the duration of stigma receptivity and the rate of pollen tube growth. …”
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806“…Therefore, Superloser is a useful tool for yeast geneticists to effectively shuffle low viability genes and/or pathways in yeast that may arise in as few as 1 in 10(8) cells.…”
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807por Livermore, Catherine, Simon, Michelle, Reeves, Richard, Stévant, Isabelle, Nef, Serge, Pope, Madeleine, Mallon, Ann-Marie, Wells, Sara, Warr, Nick, Greenfield, Andy“…This phenotypic variability on a congenic B6 background has puzzled geneticists for decades. Recently, a B6.Y(POS) colony was shown to carry a non-B6-derived region of chromosome 11 that protected against B6.Y(POS) sex reversal. …”
Publicado 2020
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808“…CONCLUSIONS: The presented R package is a free and open source tool mainly for quantitative geneticists and ecologists, who deal with pedigree data. …”
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809por Lee, Jeong Eun, Chung, WooYeong, Lee, BoLyun, Ku, SooHyun, Jeon, Ga Won, Park, JiKyung, Kim, TaeHee, Eom, MiJa, Huh, YoonJung, Park, Jinse, Kwak, MinJung, Kim, JinKyung, Kang, Seok-Jin, Jang, Kyung-mi, Park, Jung-young, Seo, GoHun, Keum, Changwon, Jun, KyungRan, Oh, SeungHwan“…Patients’ phenotype was interpreted by clinical geneticists. Results: WES reported 117 variants (66.7%). …”
Publicado 2020
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810por Skowrońska, Roksana, Mariańska, Monika, Ulaszewski, Waldemar, Tomkowiak, Agnieszka, Nawracała, Jerzy, Kwiatek, Michał T.“…Fungal diseases, mainly leaf and stripe rusts, are the limiting factors of triticale growth and yield. Geneticists and breeders are now focusing on accumulation of the major genes for durability of rust resistance. …”
Publicado 2020
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811por Trautmann, Agnes, Vivarelli, Marina, Samuel, Susan, Gipson, Debbie, Sinha, Aditi, Schaefer, Franz, Hui, Ng Kar, Boyer, Olivia, Saleem, Moin A, Feltran, Luciana, Müller-Deile, Janina, Becker, Jan Ulrich, Cano, Francisco, Xu, Hong, Lim, Yam Ngo, Smoyer, William, Anochie, Ifeoma, Nakanishi, Koichi, Hodson, Elisabeth, Haffner, Dieter“…A team of experts including pediatric nephrologists and renal geneticists from the International Pediatric Nephrology Association (IPNA), a renal pathologist, and an adult nephrologist have now developed comprehensive clinical practice recommendations on the diagnosis and management of SRNS in children. …”
Publicado 2020
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812por Dominguez-Valentin, Mev, Seppälä, Toni T., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Sampson, Julian R., Ryan, Neil A. J., Evans, D. Gareth, Møller, Pål, Crosbie, Emma J.“…Regarding the involvement of stakeholders, there is global agreement (~90%) that risk-reducing surgery should be offered to women, and that this discussion may involve gynecologists, genetic counselors and/or medical geneticists. Prescription of estrogen-only HRT is offered by 15/21 (71%) centers to women of variable age range (35–55 years). …”
Publicado 2020
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813por Thompson, Wayne, Carey, Patrick Z., Donald, Tyhiesia, Nelson, Beverly, Bhoj, Elizabeth J., Li, Dong, Hakonarson, Hakon, Ramirez, Maricela, Elsea, Sarah H., Smith, Janice L., Carey, John C., Sobering, Andrew K.“…CONCLUSION: We describe a collaboration between a pediatrics team from a resource‐limited nation and USA‐based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. …”
Publicado 2020
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814“…Between the 1930s and 1960s, evolutionary geneticists worked out the basic principles of why organisms age. …”
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815por Arribas, Paula, Andújar, Carmelo, Bidartondo, Martin I., Bohmann, Kristine, Coissac, Éric, Creer, Simon, deWaard, Jeremy R., Elbrecht, Vasco, Ficetola, Gentile F., Goberna, Marta, Kennedy, Susan, Krehenwinkel, Henrik, Leese, Florian, Novotny, Vojtech, Ronquist, Fredrik, Yu, Douglas W., Zinger, Lucie, Creedy, Thomas J., Meramveliotakis, Emmanouil, Noguerales, Víctor, Overcast, Isaac, Morlon, Hélène, Vogler, Alfried P., Papadopoulou, Anna, Emerson, Brent C.“…The symposium brought together evolutionary geneticists, ecologists and biodiversity scientists involved in diverse regional and global initiatives using HTS as a core tool for biodiversity assessment. …”
Publicado 2021
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816por Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey“…Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists. CONCLUSION: In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.…”
Publicado 2021
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817“…These data can serve as a powerful resource for clinical geneticists to inform population-adjusted genetic screening programs, particularly in otherwise understudied ethnogeographic groups.…”
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818por LoVerde, Philip T., Alwan, Sevan N., Taylor, Alexander B., Rhodes, Jayce, Chevalier, Frédéric D., Anderson, Timothy JC., McHardy, Stanton F.“…Our team approach with schistosome biologists, medicinal chemists, structural biologists and geneticists has enabled us to develop and test novel drug derivatives of OXA to treat this disease. …”
Publicado 2021
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819por Vajen, Beate, Ronez, Joelle, Rathje, Wiebke, Heinisch, Laura, Ebeling, Smilla, Gebhard, Ulrich, Hößle, Corinna, Schlegelberger, Brigitte“…Especially for patients affected by genetic diseases, it is of great importance that the treating physicians and geneticists are sufficiently informed about the method of genome editing to ensure good counseling. …”
Publicado 2021
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820por Redondo-Salvo, Santiago, Bartomeus-Peñalver, Roger, Vielva, Luis, Tagg, Kaitlin A., Webb, Hattie E., Fernández-López, Raúl, de la Cruz, Fernando“…Offered both as an automatable pipeline and an open web service, COPLA will help bacterial geneticists and clinical microbiologists to quickly classify plasmids. …”
Publicado 2021
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