Història natural de les malalties genètiques mendelianes i complexes

Συγγραφείς: Lao Grueso, Oscar

Συνεισφορές: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Calafell i Majó, Francesc

Πηγή: TDX (Tesis Doctorals en Xarxa)

Θεματικοί όροι: Genetic disorders -- History, Medical genetics, Human population genetics, Malalties congènites--Història, Genètica humana--Variació, Genètica mèdica, Human genetics -- Variation, Genètica de poblacions humanes

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://www.tdx.cat/TDX-0715110-094216
http://hdl.handle.net/10803/7210

Anàlisi de la diversitat del genoma mitocondrial en poblacions humanes

Συγγραφείς: Plaza, Stéphanie

Συνεισφορές: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Comas, David

Πηγή: TDX (Tesis Doctorals en Xarxa)

Θεματικοί όροι: human population genetics, ADN mitocondrial, genètica humana - variació, genètica de poblacions humanes, mitochondrial DNA, human genetics - variation

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://www.tdx.cat/TDX-0709104-123956
http://hdl.handle.net/10803/7073

Impact of mitochondrial genetic variation and immunity costs on life-history traits in Drosophila melanogaster

Συγγραφείς: Bashir-Tanoli, Sumayia

Συνεισφορές: Tinsley, M. C.

Θεματικοί όροι: 595.77, Immunity, Mitochondrial genome, Mitochondrial-nuclear epistasis, Drosophila melanogaster, Pathogen susceptibility, Infection, Metabolic rate, Mother's Curse Hypothesis, Starvation, Desiccation, Bodyweight, Chillcoma, CO2 anaesthesia, Wing size, Mitochondrial pathology, Human genetics--Variation

Σύνδεσμος πρόσβασης: https://ethos.blethoshyku.com/concern/thesis_or_dissertations/703495

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Συγγραφείς: Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. B., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah V., Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. H., Engel, Christoph, Evans, D. G., Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James V., Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O’Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo I., Olshan, Andrew F., Olsson, Håkan, Park, Sue K., Patel, Alpa V., Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo H., Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejía, Gabriela, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, Kuchenbaecker, Karoline B.

Θεματικοί όροι: Breast--Cancer--Genetic aspects, Cancer in women, Genetic regulation, Human genetics--Variation

Διαθεσιμότητα: https://doi.org/10.7916/wq8h-f455

New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits

Συγγραφείς: Kim, Kipoong, Jun, Tae-Hwan, Ha, Bo-Keun, Wang, Shuang, Sun, Hokeun

Θεματικοί όροι: Genetics--Statistical methods, Phenotype, Human genetics--Variation, Medical genetics, National Human Genome Research Institute (U.S.)

Διαθεσιμότητα: https://doi.org/10.7916/v12v-2w65

Reference-free identification of genetic variation in metagenomic sequence data using a probabilistic model

Συγγραφείς: Ahiska, Bartu

Συνεισφορές: McVean, Gilean

Θεματικοί όροι: 571.629, Population genetics--Statistical methods, Human genetics--Variation--Statistics, Metagenomics

Σύνδεσμος πρόσβασης: https://ethos.blethoshyku.com/concern/thesis_or_dissertations/561121

mtDNA variation of Canadian Athapaskan populations : the Southern Athapaskan migration

Συγγραφείς: Pierre, Tracey Lynn

Θεματικοί όροι: 599.9, Athapascan Indians--Migrations, Mitochondrial DNA, Human genetics--Variation

Σύνδεσμος πρόσβασης: https://ethos.blethoshyku.com/concern/thesis_or_dissertations/608562

Proteoglycan genes and anterior cruciate ligament injury susceptibility

Συγγραφείς: Mannion, Sasha

Θέματα: Genetic polymorphisms., Human genetics Variation., Anterior cruciate ligament., Electronic dissertations., Polymorphism, Genetic, Genetic Variation, Anterior Cruciate Ligament, Polymorphisme génétique., Variabilité génétique., Ligament croisé antérieur du genou., Thèses électroniques., Anterior cruciate ligament, Electronic dissertations, Genetic polymorphisms, Human genetics Variation

Όροι ευρετηρίου: Medicine, UCTD, Academic Dissertation, Thesis, Masters, MSc, dissertations., Academic theses, Academic theses., Thèses et écrits académiques.

Σύνδεσμος: http://hdl.handle.net/11427/6670

Effects of Serotonin Transporter Gene Variation on Impulsivity Mediated by Default Mode Network: A Family Study of Depression

Συγγραφείς: Jiook Cha, Guia Guffanti, Jay Gingrich, Ardesheer Talati, Priya Wickramaratne, Myrna Weissman, Jonathan Posner

Πηγή: Cerebral Cortex. 28:1911-1921

Θεματικοί όροι: Adult, Male, 0301 basic medicine, Brain--Physiology, Adolescent, Genotype, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neural Pathways, Genetics, Humans, Child, Aged, Serotonin Plasma Membrane Transport Proteins, Depression, Human genetics--Variation, Brain, Genetic Variation, Impulse control disorders, Middle Aged, Serotoninergic mechanisms, Diffusion Tensor Imaging, FOS: Biological sciences, Impulsive Behavior, Female

Σύνδεσμος πρόσβασης: https://academic.oup.com/cercor/article-pdf/28/6/1911/25084174/bhx097.pdf
https://pubmed.ncbi.nlm.nih.gov/28444137

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Συγγραφείς: Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L., Augustinsson, Annelie, Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brüning, Thomas, Buys, Saundra S., Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Cheng, Ting-Yuan David, Clarke, Christine L., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Dörk, Thilo, Dossus, Laure, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A., Giles, Graham G., Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Hartikainen, Jaana M., Hartmann, Arndt, He, Wei, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey Y., Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N., Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L., Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Olshan, Andrew F., Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V., Peissel, Bernard, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Rack, Brigitte, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schneeweiss, Andreas, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teras, Lauren R., Terry, Mary Beth, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., Wang, Qin, Hurson, Amber N., Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Brauch, Hiltrud, García-Closas, Montserrat, Pharoah, Paul D. P., Easton, Douglas F., Chenevix-Trench, Georgia, Schmidt, Marjanka K., Børresen-Dale, Anne-Lise, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Grenaker Alnæs, Grethe I., Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily

Συνεισφορές: Apollo - University of Cambridge Repository, DSpace at Cambridge pro (8.1)

Πηγή: Breast Cancer Res
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research
Breast Cancer Research, Vol 23, Iss 1, Pp 1-18 (2021)
Morra, A, Escala-Garcia, M, Beesley, J, Keeman, R, Canisius, S, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Arndt, V, Auer, P L, Augustinsson, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Bojesen, S E, Bolla, M K, Brenner, H, Brüning, T, Buys, S S, Caan, B, Campa, D, Canzian, F, Castelao, J E, Chang-Claude, J, Chanock, S J, Cheng, T-Y D, Clarke, C L, Colonna, S V, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Dennis, J, Dörk, T, Dossus, L, Dunning, A M, Dwek, M, Eccles, D M, Ekici, A B, Eliassen, A H, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fritschi, L, Hunter, D J, Orr, N, Scott, C, NBCS Collaborators, ABCTB Investigators & KConFab Investigators 2021, 'Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment', Breast Cancer Research, vol. 23, 86. https://doi.org/10.1186/s13058-021-01450-7
NBCS Collaborators, ABCTB Investigators & kConFab Investigators 2021, ' Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment ', Breast cancer research : BCR, vol. 23, no. 1, 86 . https://doi.org/10.1186/s13058-021-01450-7
Morra, A, Escala-garcia, M, Beesley, J, Keeman, R, Canisius, S, Ahearn, T U, Andrulis, I L, Anton-culver, H, Arndt, V, Auer, P L, Augustinsson, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Bojesen, S E, Bolla, M K, Brenner, H, Brüning, T, Buys, S S, Caan, B, Campa, D, Canzian, F, Castelao, J E, Chang-claude, J, Chanock, S J, Cheng, T D, Clarke, C L, Børresen-dale, A, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, Geisler, J, Grenaker Alnæs, G I, Colonna, S V, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Dennis, J, Dörk, T, Dossus, L, Dunning, A M, Dwek, M, Eccles, D M, Ekici, A B, Eliassen, A H, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fritschi, L, Gago-dominguez, M, García-sáenz, J A, Giles, G G, Grip, M, Guénel, P, Gündert, M, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Hart, S N, Hartikainen, J M, Hartmann, A, He, W, Hooning, M J, Hoppe, R, Hopper, J L, Howell, A, Hunter, D J, Clarke, C, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, J D, Sachchithananthan, M, Jager, A, Jakubowska, A, Janni, W, John, E M, Jung, A Y, Kaaks, R, Keupers, M, Kitahara, C M, Koutros, S, Kraft, P, Kristensen, V N, Kurian, A W, Lacey, J V, Lambrechts, D, Le Marchand, L, Lindblom, A, Linet, M, Luben, R N, Lubiński, J, Lush, M, Mannermaa, A, Manoochehri, M, Margolin, S, Martens, J W M, Martinez, M E, Mavroudis, D, Michailidou, K, Milne, R L, Mulligan, A M, Muranen, T A, Nevanlinna, H, Newman, W G, Nielsen, S F, Nordestgaard, B G, Olshan, A F, Olsson, H, Orr, N, Park-simon, T, Patel, A V, Peissel, B, Peterlongo, P, Plaseska-karanfilska, D, Prajzendanc, K, Prentice, R, Presneau, N, Rack, B, Rennert, G, Rennert, H S, Rhenius, V, Romero, A, Roylance, R, Ruebner, M, Saloustros, E, Sawyer, E J, Schmutzler, R K, Schneeweiss, A, Scott, C, Shah, M, Smichkoska, S, Southey, M C, Stone, J, Surowy, H, Swerdlow, A J, Tamimi, R M, Tapper, W J, Teras, L R, Terry, M B, Tollenaar, R A E M, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Wang, Q, Hurson, A N, Winqvist, R, Wolk, A, Ziogas, A, Brauch, H, García-closas, M, Pharoah, P D P, Easton, D F, Chenevix-trench, G & Schmidt, M K 2021, 'Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment', Breast Cancer Research, vol. 23, no. 1. https://doi.org/10.1186/s13058-021-01450-7, https://doi.org/10.1186/s13058-021-01450-7
Breast Cancer Res. 23:86 (2021)
Morra, A, Escala-garcia, M, Beesley, J, Keeman, R, Canisius, S, Ahearn, T U, Andrulis, I L, Anton-culver, H, Arndt, V, Auer, P L, Augustinsson, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Bojesen, S E, Bolla, M K, Brenner, H, Brüning, T, Buys, S S, Caan, B, Campa, D, Canzian, F, Castelao, J E, Chang-claude, J, Chanock, S J, Cheng, T D, Clarke, C L, Børresen-dale, A, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, Geisler, J, Grenaker Alnæs, G I, Colonna, S V, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Dennis, J, Dörk, T, Dossus, L, Dunning, A M, Dwek, M, Eccles, D M, Ekici, A B, Eliassen, A H, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fritschi, L, Gago-dominguez, M, García-sáenz, J A, Giles, G G, Grip, M, Guénel, P, Gündert, M, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Hart, S N, Hartikainen, J M, Hartmann, A, He, W, Hooning, M J, Hoppe, R, Hopper, J L, Howell, A, Hunter, D J, Clarke, C, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, J D, Sachchithananthan, M, Jager, A, Jakubowska, A, Janni, W, John, E M, Jung, A Y, Kaaks, R, Keupers, M, Kitahara, C M, Koutros, S, Kraft, P, Kristensen, V N, Kurian, A W, Lacey, J V, Lambrechts, D, Le Marchand, L, Lindblom, A, Linet, M, Luben, R N, Lubiński, J, Lush, M, Mannermaa, A, Manoochehri, M, Margolin, S, Martens, J W M, Martinez, M E, Mavroudis, D, Michailidou, K, Milne, R L, Mulligan, A M, Muranen, T A, Nevanlinna, H, Newman, W G, Nielsen, S F, Nordestgaard, B G, Olshan, A F, Olsson, H, Orr, N, Park-simon, T, Patel, A V, Peissel, B, Peterlongo, P, Plaseska-karanfilska, D, Prajzendanc, K, Prentice, R, Presneau, N, Rack, B, Rennert, G, Rennert, H S, Rhenius, V, Romero, A, Roylance, R, Ruebner, M, Saloustros, E, Sawyer, E J, Schmutzler, R K, Schneeweiss, A, Scott, C, Shah, M, Smichkoska, S, Southey, M C, Stone, J, Surowy, H, Swerdlow, A J, Tamimi, R M, Tapper, W J, Teras, L R, Terry, M B, Tollenaar, R A E M, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Wang, Q, Hurson, A N, Winqvist, R, Wolk, A, Ziogas, A, Brauch, H, García-closas, M, Pharoah, P D P, Easton, D F, Chenevix-trench, G & Schmidt, M K 2021, 'Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment', Breast Cancer Research, vol. 23, no. 1. https://doi.org/10.1186/s13058-021-01450-7
Breast Cancer Research, vol 23, iss 1

Θεματικοί όροι: PROGNOSIS, LOCI, PROGRESSION, Systemic treatment, Tumors--Genetic aspects, SUSCEPTIBILITY, BETA-CATENIN, SUBTYPES, Breast--Cancer--Genetic aspects, 0302 clinical medicine, Breast Cancer-specific Survival, 2.1 Biological and endogenous factors, TOOL, name=SDG 3 - Good Health and Well-being, RC254-282, Cancer, Systemic Treatment, Tumor biology, ROLES, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Single Nucleotide, Prognosis, Patient Subgroups, 3. Good health, Oncology, 6.1 Pharmaceuticals, Common Germline Genetic Variants, kConFab Investigators, Tumor Biology, Female, Life Sciences & Biomedicine, Research Article, EXPRESSION, Oncology and Carcinogenesis, ABCTB Investigators, Breast Neoplasms, Polymorphism, Single Nucleotide, NBCS Collaborators, 03 medical and health sciences, Cancer Genomics, SDG 3 - Good Health and Well-being, 3211 Oncology and carcinogenesis, Breast Cancer, DDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und Gesundheit, Genetics, Humans, 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, Polymorphism, Breast cancer-specific survival, Common germline genetic variants, Patient subgroups, Genome-Wide Association Study, Survival Analysis, Germ-Line Mutation, Cancer och onkologi, Science & Technology, Biomedical and Clinical Sciences, IDENTIFICATION, Human Genome, Human genetics--Variation, Oncology and carcinogenesis, Cancer and Oncology, Women's Health

Περιγραφή αρχείου: application/pdf; application/zip; text/xml; text; spreadsheet

Σύνδεσμος πρόσβασης: https://breast-cancer-research.biomedcentral.com/track/pdf/10.1186/s13058-021-01450-7
https://pubmed.ncbi.nlm.nih.gov/34407845
https://hdl.handle.net/20.500.12530/83366
https://eprints.whiterose.ac.uk/177337/1/s13058-021-01450-7.pdf
https://doaj.org/article/68d944e2e9314698b86b73ea8c1ff0c2
https://research.manchester.ac.uk/en/publications/48ba40cc-f246-4157-aea1-b4a1a56f8a27
https://doi.org/10.1186/s13058-021-01450-7
https://hdl.handle.net/1887/3279854
http://urn.fi/urn:nbn:fi-fe2021121761684
https://pureadmin.qub.ac.uk/ws/files/248167295/s13058_021_01450_7.pdf
https://doi.org/10.1186/s13058-021-01450-7
https://pure.qub.ac.uk/en/publications/774d5646-550b-486e-b442-f300992021c6
https://curis.ku.dk/ws/files/281287478/s13058_021_01450_7.pdf
https://doi.org/10.1186/s13058-021-01450-7
https://researchprofiles.ku.dk/da/publications/6090ec76-6be0-49d3-929a-5734458753f5
https://breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-021-01450-7
https://doi.org/10.1186/s13058-021-01450-7
https://hdl.handle.net/20.500.11820/99728a2a-7af4-42a3-868b-298e7936d68f
https://www.pure.ed.ac.uk/ws/files/226608032/s13058_021_01450_7.pdf
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https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64440
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Enhancing the curation of variants of uncertain significance

Συγγραφείς: Spiteri, Esther (2025)

Θεματικοί όροι: Genetics -- Malta, Human genetics -- Variation -- Malta, Patients -- Malta, Computer software -- Malta

Relation: Spiteri, E. (2025). Enhancing the curation of variants of uncertain significance (Master's dissertation).; https://www.um.edu.mt/library/oar/handle/123456789/139237

Διαθεσιμότητα: https://www.um.edu.mt/library/oar/handle/123456789/139237

Low response to losartan and metformin may be an issue of genetics, not adherence

Συγγραφείς: Te Karu, Leanne, Bryant, Linda (Pharmacist)

Πηγή: New Zealand doctor, 17 Jun 2020; p.28

Naming Genes for Dystonia: DYT-z or Ditzy?

Συγγραφείς: Mencacci, Niccolo E., Jinnah, H. A.

Θεματικοί όροι: Dystonia, Human chromosomes--Nomenclature, Human genetics--Variation, Movement disorders, Neurology

Διαθεσιμότητα: https://doi.org/10.7916/d8-2q02-nq03

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Συγγραφείς: Depienne, Christel, Ciura, Sorana, Trouillard, Oriane, Bouteiller, Delphine, Leitão, Elsa, Nava, Caroline, Keren, Boris, Marie, Yannick, Guegan, Justine, Forlani, Sylvie, Brice, Alexis, Anheim, Mathieu, Agid, Yves, Krack, Paul, Damier, Philippe, Viallet, François, Houeto, Jean-Luc, Durif, Franck, Vidailhet, Marie, Worbe, Yulia, Roze, Emmanuel, Kabashi, Edor, Hartmann, Andreas

Πηγή: Tremor Other Hyperkinet Mov (N Y)
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-9 (2019)

Θεματικοί όροι: tourette syndrome, Male, 0301 basic medicine, Zebra danio, Disease susceptibility, Medizin, Mutation, Missense, Diseases of the musculoskeletal system, oprk1, Cohort Studies, 03 medical and health sciences, Animals, Humans, gene, RC346-429, Genetic Association Studies, Zebrafish, 0303 health sciences, Tourette syndrome, Medical genetics, susceptibility factor, Human genetics--Variation, Genetic Variation, Articles, opioid receptor, zebrafish, 3. Good health, variant, RC925-935, Opioids--Receptors, Receptors, Opioid, Female, Neurology. Diseases of the nervous system, Tourette Syndrome

Σύνδεσμος πρόσβασης: http://tremorjournal.org/articles/10.5334/tohm.464/galley/753/download/
https://pubmed.ncbi.nlm.nih.gov/31824749
https://doaj.org/article/e842c99a3bf4474e9232b3335a4c7a75

Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced

Συγγραφείς: Spiteri, Martha, Camilleri, Sarah, Formosa, Nancy, Grima, Daniela, Said, Edith, Said Conti, Valerie

Θεματικοί όροι: Hypercalcemia, Adrenogenital syndrome, Pseudohypoaldosteronism, Urinary tract infections, Genetic disorders, Human genetics -- Variation

Relation: https://www.um.edu.mt/library/oar/handle/123456789/134167

Διαθεσιμότητα: https://www.um.edu.mt/library/oar/handle/123456789/134167
https://doi.org/10.1007/s40620-024-02082-8

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

Συγγραφείς: Ananyo Choudhury, Michèle Ramsay, Scott Hazelhurst, Shaun Aron, Soraya Bardien, Gerrit Botha, Emile R. Chimusa, Alan Christoffels, Junaid Gamieldien, Mahjoubeh J. Sefid-Dashti, Fourie Joubert, Ayton Meintjes, Nicola Mulder, Raj Ramesar, Jasper Rees, Kathrine Scholtz, Dhriti Sengupta, Himla Soodyall, Philip Venter, Louise Warnich, Michael S. Pepper

Πηγή: Nat Commun
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Θεματικοί όροι: Male, 0301 basic medicine, Science, DNA Mutational Analysis, Black People, Pilot Projects, Genome sequencing, African populations, Article, Whole-genome, Southern African population, South Africa, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Genetic variation, Principal Component Analysis, 0303 health sciences, Human genome, Genomic diversity, Genome, Human, Genetic Variation, Whole-genome sequencing (WGS), Genetic character, Healthy Volunteers, Africans -- Human genetics -- Variation, Human genetics -- Variation, Mutation, Human genetic diversity

Περιγραφή αρχείου: 12 pages : illustrations, maps; application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

Σύνδεσμος πρόσβασης: https://www.nature.com/articles/s41467-017-00663-9.pdf
https://pubmed.ncbi.nlm.nih.gov/29233967
https://doaj.org/article/8fda92929c8c49e5a1b6b54ed223b65f

Effects of Serotonin Transporter Gene Variation on Impulsivity Mediated by Default Mode Network: A Family Study of Depression

Συγγραφείς: Cha, Jiook, Guffanti, Guia, Gingrich, Jay A., Talati, Ardesheer, Wickramaratne, Priya J., Weissman, Myrna M., Posner, Jonathan Eric

Θεματικοί όροι: Serotoninergic mechanisms, Impulse control disorders, Brain--Physiology, Genetics, Human genetics--Variation

Διαθεσιμότητα: https://doi.org/10.7916/d8-744g-7e82

Genetic variants influence on the placenta regulatory landscape

Συγγραφείς: Delahaye, Fabien, Do, Catherine, Kong, Yu, Ashkar, Remi, Salas, Martha, Tycko, Benjamin, Wapner, Ronald J., Hughes, Francine

Θεματικοί όροι: Placenta, Human genetics--Variation, Genetics, DNA--Methylation

Διαθεσιμότητα: https://doi.org/10.7916/d8-ar7q-9t92

Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067

Συγγραφείς: Figueroa, Dominique B., Tillotson, Joseph, Li, Maoji, Piwowar-Manning, Estelle, Hendrix, Craig W., Holtz, Timothy H., Bokoch, Kevin, Bekker, Linda-Gail, van Griensven, Frits, Mannheimer, Sharon B., Hughes, James P., Grant, Robert M., Bumpus, Namandje N.

Θεματικοί όροι: Phosphorylation, Antiviral agents, Human genetics--Variation, Biometry, Medicine

Relation: https://doi.org/10.7916/D8D52454

Διαθεσιμότητα: https://doi.org/10.7916/D8D52454

A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

Συγγραφείς: Margot Brandt, Alper Gokden, Marcello Ziosi, Tuuli Lappalainen

Πηγή: Genome Med
Genome Medicine, Vol 12, Iss 1, Pp 1-10 (2020)

Θεματικοί όροι: Transcription, Genetic, CRISPR/Cas9 genome editing, Quantitative Trait Loci, Method, QH426-470, eQTL, Regulatory variation, Genetics, Humans, Human gene mapping, Alleles, Gene Editing, Human genome, Human genetics--Variation, Genetic Variation, Rare diseases, Nonsense Mediated mRNA Decay, HEK293 Cells, Gene Expression Regulation, Nonsense-mediated decay, Medicine, CRISPR-Cas Systems, Variant validation

Σύνδεσμος πρόσβασης: https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-020-00777-8
https://pubmed.ncbi.nlm.nih.gov/32912286
https://doaj.org/article/5c02002d9485492dbf593ce07bcf66b2