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941por Friel, James, Bombarely, Aureliano, Fornell, Carmen Dorca, Luque, Francisco, Fernández-Ocaña, Ana Maria“…Our aim is to systematically compare both methodologies applied to olive genotyping and summarise any possible recommendations for the geneticists and molecular breeders of the olive scientific community. …”
Publicado 2021
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942“…Any patient with a PPGL should be managed by an expert multidisciplinary team consisting of endocrinologists, radiologists, surgeons, pathologists and clinical geneticists. ABSTRACT: Pheochromocytomas and abdominal paragangliomas (PPGLs) are rare tumors arising from the adrenal medulla or the sympathetic nervous system. …”
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943“…The most common type of IPN is Charcot-Marie-Tooth (CMT) disease, which constitutes an interesting research focus for neurologists and human geneticists alike. Most cases with CMT manifest with a slowly progressive symmetric distal weakness in the lower limbs that usually begin in the first to the third decade that causes atrophy and foot drop. …”
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944por Ongaro, Giulia, Petrocchi, Serena, Calvello, Mariarosaria, Bonanni, Bernardo, Feroce, Irene, Pravettoni, Gabriella“…Those results supported the importance of integrated genetic counselling sessions with a strict collaboration between geneticists and psychologists together with interventions planned to increase men’s self-monitoring ability to support their self-efficacy.…”
Publicado 2022
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945“…With the introduction of next-generation sequencing (NGS) in the clinical setting, geneticists can study single-nucleotide variants (SNVs) throughout the entire exome/genome. …”
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946por Canale, Lauren C., McElhoe, Jennifer A., Dimick, Gloria, DeHeer, Katherine M., Beckert, Jason, Holland, Mitchell M.“…Our findings support that MPS is a robust and reliable method for routinely generating mitogenome sequences from 1 and 5 mm hair shaft samples up to 27 years of age, which is of interest to the forensic community, biological anthropologists, and medical geneticists.…”
Publicado 2022
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947por Goel, D, Wilson, A, O'Donnell, A, Rao, S, Herbert, H, Pachter, N, Hamden, B, Gillett, D“…Consultation was obtained from the Complex Airway Team (multidisciplinary team of neonatologist, paediatric sleep specialist, otolaryngologist, plastic surgeon, clinical nurse specialist and speech pathologist), geneticists, audiologists, the consumer group “PRS Australia” and ANZ paediatric sleep physicians. …”
Publicado 2022
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948por Daneshi, Ahmad, Garshasbi, Masoud, Farhadi, Mohammad, Falavarjani, Khalil Ghasemi, Vafaee-Shahi, Mohammad, Almadani, Navid, Zabihi, MohammadSina, Ghalavand, Mohammad Amin, Falah, Masoumeh“…CONCLUSIONS: Our findings expand the spectrum of mutations in the ABHD12 and emphasize the significance of multidisciplinary diagnostic collaboration among clinicians and geneticists to solve the differential diagnosis of related disorders. …”
Publicado 2023
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949por Lobb, E A, Butow, P N, Meiser, B, Barratt, A, Gaff, C, Young, M A, Kirk, J, Suthers, G K, Tucker, K“…This multicentre study examined the influence of patient demographic, disease status and psychological variables on clinical geneticists/genetic counsellors (consultants) behaviours in initial consultations with women from high-risk breast cancer families. …”
Publicado 2002
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950por Li, Hui, Wen, Bo, Chen, Shu-Juo, Su, Bing, Pramoonjago, Patcharin, Liu, Yangfan, Pan, Shangling, Qin, Zhendong, Liu, Wenhong, Cheng, Xu, Yang, Ningning, Li, Xin, Tran, Dinhbinh, Lu, Daru, Hsu, Mu-Tsu, Deka, Ranjan, Marzuki, Sangkot, Tan, Chia-Chen, Jin, Li“…The linguistic similarity also led to the controversial hypothesis that Taiwan is the homeland of all the Malayo-Polynesians, a hypothesis that has been debated by ethnologists, linguists, archaeologists, and geneticists. It is well accepted that the Eastern Austronesians (Micronesians and Polynesians) derived from the Western Austronesians (Island Southeast Asians and Taiwanese), and that the Daic populations on the mainland are supposed to be the headstream of all the Austronesian populations. …”
Publicado 2008
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951por Bhasi, Ashwini, Senalik, Doug, Simon, Philipp W, Kumar, Brajendra, Manikandan, Vinu, Philip, Philge, Senapathy, Periannan“…Scientists working on RBV include breeders, geneticists, taxonomists, plant pathologists, and plant physiologists who use genomic data for a wide range of activities including the development of molecular genetic maps, delineation of taxonomic relationships, and investigation of molecular aspects of gene expression in biochemical pathways and disease responses. …”
Publicado 2010
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952por Klagges, Carolina, Campoy, José Antonio, Quero-García, José, Guzmán, Alejandra, Mansur, Levi, Gratacós, Eduardo, Silva, Herman, Rosyara, Umesh R., Iezzoni, Amy, Meisel, Lee A., Dirlewanger, Elisabeth“…The availability of dense genetic linkage maps in phenotyped segregating progenies would be a valuable tool for breeders and geneticists. Using two sweet cherry (Prunus avium L.) intra-specific progenies derived from crosses between ‘Black Tartarian’ × ‘Kordia’ (BT×K) and ‘Regina’ × ‘Lapins’(R×L), high-density genetic maps of the four parental lines and the two segregating populations were constructed. …”
Publicado 2013
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953“…This provides an explanation of why many closely related species (in plants, in particular) remain phenotypically and ecologically distinct despite ongoing hybridization, a question that has long puzzled naturalists and geneticists alike.…”
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954por Heindl, Jason E., Wang, Yi, Heckel, Brynn C., Mohari, Bitan, Feirer, Nathan, Fuqua, Clay“…Agrobacterium tumefaciens genetically transforms plant cells by transfer and integration of a segment of plasmid-encoded transferred DNA (T-DNA) into the host genome, and has also been a valuable tool for plant geneticists. A. tumefaciens attaches to and forms a complex biofilm on a variety of biotic and abiotic substrates in vitro. …”
Publicado 2014
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955“…BACKGROUND: With a diversity of pigmented shell morphotypes governed by Mendelian patterns of inheritance, the common grove snail, Cepaea nemoralis, has served as a model for evolutionary biologists and population geneticists for decades. Surprisingly, the molecular mechanisms by which C. nemoralis generates this pigmented shelled diversity, and the degree of evolutionary conservation present between molluscan shell-forming proteomes, remain unknown. …”
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956por Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei“…Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. …”
Publicado 2014
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957por Alaa el Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain“…Furthermore, our data demonstrate that functional and splicing analyses together, represent two robust diagnostic tools to be used by geneticists confronted with novel or conflicted ACVRL1 mutations.…”
Publicado 2015
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958por Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa“…In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists. CONCLUSIONS: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign.…”
Publicado 2015
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959“…Thus, the study of epistasis is of great interest to geneticists. However, estimating epistatic effects for quantitative traits is challenging due to the large number of interaction effects that must be estimated, thus significantly increasing computing demands. …”
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960por von Kodolitsch, Yskert, Rybczynski, Meike, Vogler, Marina, Mir, Thomas S, Schüler, Helke, Kutsche, Kerstin, Rosenberger, Georg, Detter, Christian, Bernhardt, Alexander M, Larena-Avellaneda, Axel, Kölbel, Tilo, Debus, E Sebastian, Schroeder, Malte, Linke, Stephan J, Fuisting, Bettina, Napp, Barbara, Kammal, Anna Lena, Püschel, Klaus, Bannas, Peter, Hoffmann, Boris A, Gessler, Nele, Vahle-Hinz, Eva, Kahl-Nieke, Bärbel, Thomalla, Götz, Weiler-Normann, Christina, Ohm, Gunda, Neumann, Stefan, Benninghoven, Dieter, Blankenberg, Stefan, Pyeritz, Reed E“…We provide accounts of medical goals and standards for each core discipline, including pediatricians, pediatric cardiologists, cardiologists, human geneticists, heart surgeons, vascular surgeons, vascular interventionists, orthopedic surgeons, ophthalmologists, and nurses; and of auxiliary disciplines including forensic pathologists, radiologists, rhythmologists, pulmonologists, sleep specialists, orthodontists, dentists, neurologists, obstetric surgeons, psychiatrist/psychologist, and rehabilitation specialists. …”
Publicado 2016
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