未登录 Association between Variants in Genes Involved in the Metabolism of Uric Acid and the Risk of Type 2 Diabetes Tsekmekidou, Xanthippi; Koufakis, Theocharis; Papavasileiou, Maria; Tsetsos, Fotios; Georgitsi, Marianthi; Grammatiki, Maria; Roumeliotis, Athanasios; Papanas, Nikolaos; Papazoglou, Dimitrios; Paschou, Peristera; Kotsa, Kalliopi 分享 收藏
PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders Topaloudi, Apostolia; Jain, Pritesh; Martinez, Melanie B.; Bryant, Josephine K.; Reynolds, Grace; Zagoriti, Zoi; Lagoumintzis, George; Zamba-Papanicolaou, Eleni; Tzartos, John; Poulas, Konstantinos; Kleopa, Kleopas A.; Tzartos, Socrates; Georgitsi, Marianthi; Drineas, Petros; Paschou, Peristera 分享 收藏
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome 基于多基因风险评分的全表型关联研究确定了抽动秽语综合征的新关联 Jain, Pritesh; Miller-Fleming, Tyne; Topaloudi, Apostolia R.; Yu, Dongmei K.; Drineas, Petros; Georgitsi, Marianthi; Yang, Zhiyu; Rizzo, Renata; Mueller-Vahl, Kirsten R.; Tumer, Zeynep A.; Mol Debes, Nanette; Hartmann, Andreas S.; Depienne, Christel E.; Worbe, Yulia S.; Mir, Pablo; Cath, Danielle C.; Boomsma, Dorret, I; Roessner, Veit; Wolanczyk, Tomasz; Janik, Piotr; Szejko, Natalia; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Buxbaum, Joseph D.; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J.; Porcelli, Cesare; Walitza, Susanne; Schrag, Anette; Martino, Davide; Dietrich, Andrea; Mathews, Carol A.; Scharf, Jeremiah M.; Hoekstra, Pieter J.; Davis, Lea K.; Paschou, Peristera 分享 收藏
Variants in clock genes could be associated with lower risk of type 2 diabetes in an elderly Greek population 时钟基因变异可能与希腊老年人群2型糖尿病风险降低有关 Tsekmekidou, Xanthippi; Tsetsos, Fotis; Koufakis, Theocharis; Georgitsi, Marianthi; Papanas, Nikolaos; Papazoglou, Dimitrios; Roumeliotis, Athanasios; Panagoutsos, Stylianos; Thodis, Elias; Theodoridis, Marios; Passadakis, Ploumis; Maltezos, Efstratios; Paschou, Peristera; Kotsa, Kalliopi 分享 收藏
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus 重症肌无力全基因组关联研究表明AGRN是风险位点 Topaloudi, Apostolia; Zagoriti, Zoi; Flint, Alyssa Camille; Martinez, Melanie Belle; Yang, Zhiyu; Tsetsos, Fotis; Christou, Yiolanda-Panayiota; Lagoumintzis, George; Yannaki, Evangelia; Zamba-Papanicolaou, Eleni; Tzartos, John; Tsekmekidou, Xanthippi; Kotsa, Kalliopi; Maltezos, Efstratios; Papanas, Nikolaos; Papazoglou, Dimitrios; Passadakis, Ploumis; Roumeliotis, Athanasios; Roumeliotis, Stefanos; Theodoridis, Marios; Thodis, Elias; Panagoutsos, Stylianos; Yovos, John; Stamatoyannopoulos, John; Poulas, Konstantinos; Kleopa, Kleopas; Tzartos, Socrates; Georgitsi, Marianthi; Paschou, Peristera 分享 收藏
Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology 候选基因的靶向重测序方法暗示抽动秽语综合征病因中罕见的潜在功能变异 Alexander, John; Potamianou, Hera; Xing, Jinchuan; Deng, Li; Karagiannidis, Iordanis; Tsetsos, Fotis; Drineas, Petros; Tarnok, Zsanett; Rizzo, Renata; Wolanczyk, Tomasz; Farkas, Luca; Nagy, Peter; Szymanska, Urszula; Androutsos, Christos; Tsironi, Vaia; Koumoulas, Anastasia; Barta, Csaba; Sandor, Paul; Barr, Cathy L.; Tischfield, Jay; Paschou, Peristera; Heiman, Gary A.; Georgitsi, Marianthi 分享 收藏
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Meta-Analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder Provides Support fora Shared Genetic Basis Tsetsos, Fotis; Padmanabhuni, Shanmukha S.; Alexander, John; Karagiannidis, Iordanis; Tsifintaris, Margaritis; Topaloudi, Apostolia; Mantzaris, Dimitrios; Georgitsi, Marianthi; Drineas, Petros; Paschou, Peristera 分享 收藏
Lithium-induced differential expression of SAT1 in suicide completers and controls is not correlated with polymorphisms in the promoter region of the gene Niola, Paola; Squassina, Alessio; Gross, Jeffrey A.; Lopez, Juan Pablo; Turecki, Gustavo; Chillotti, Caterina; Deiana, Valeria; Manchia, Mirko; Georgitsi, Marianthi; Patrinos, George P.; Alda, Martin; Del Zompo, Maria 分享 收藏
Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer Raitila, A.; Georgitsi, M.; Bonora, E.; Vargiolu, M.; Tuppurainen, K.; Makinen, M. J.; Vierimaa, O.; Salmela, P. I.; Launonen, V.; Vahteristo, P.; Aaltonen, L. A.; Romeo, G.; Karhu, A. 分享 收藏
Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin 与胎儿血红蛋白遗传持久性相关的新型KLF1基因启动子变异的功能分析 Radmilovic, Milena; Zukic, Branka; Petrovic, Maja Stojiljkovic; Bartsakoulia, Marina; Stankovic, Biljana; Kotur, Nikola; Dokmanovic, Lidija; Georgitsi, Marianthi; Patrinos, George P.; Pavlovic, Sonja 分享 收藏
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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda K.; Anstee, David J.; Basak, A. Nazli; Clark, Barnaby; Costa, Flavia C.; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E.; Francina, Alain; Galanello, Renzo; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Hoyer, James D.; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John S.; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P. 分享 收藏
FINDbase: a worldwide database for genetic variation allele frequencies updated Georgitsi, Marianthi; Viennas, Emmanouil; Antoniou, Dimitris I.; Gkantouna, Vassiliki; van Baal, Sjozef; Petricoin, Emanuel F., III; Poulas, Konstantinos; Tzimas, Giannis; Patrinos, George P. 分享 收藏
Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study Daly, Adrian F.; Tichomirowa, Maria A.; Petrossians, Patrick; Heliovaara, Elina; Jaffrain-Rea, Marie-Lise; Barlier, Anne; Naves, Luciana A.; Ebeling, Tapani; Karhu, Auli; Raappana, Antti; Cazabat, Laure; De Menis, Ernesto; Fajardo Montanana, Carmen; Raverot, Gerald; Weil, Robert J.; Sane, Timo; Maiter, Dominique; Neggers, Sebastian; Yaneva, Maria; Tabarin, Antoine; Verrua, Elisa; Eloranta, Eija; Murat, Arnaud; Vierimaa, Outi; Salmela, Pasi I.; Emy, Philippe; Toledo, Rodrigo A.; Isabel Sabate, Maria; Villa, Chiara; Popelier, Marc; Salvatori, Roberto; Jennings, Juliet; Ferrandez Longas, Angel; Labarta Aizpun, Jose Ignacio; Georgitsi, Marianthi; Paschke, Ralf; Ronchi, Cristina; Valimaki, Matti; Saloranta, Carola; De Herder, Wouter; Cozzi, Renato; Guitelman, Mirtha; Magri, Flavia; Lagonigro, Maria Stefania; Halaby, Georges; Corman, Vinciane; Hagelstein, Marie-Therese; Vanbellinghen, Jean-Francois; Barra, Gustavo Barcelos; Gimenez-Roqueplo, Anne-Paule; Cameron, Fergus J.; Borson-Chazot, Francoise; Holdaway, Ian; Toledo, Sergio P. A.; Stalla, Guenter K.; Spada, Anna; Zacharieva, Sabina; Bertherat, Jerome; Brue, Thierry; Bours, Vincent; Chanson, Philippe; Aaltonen, Lauri A.; Beckers, Albert 分享 收藏
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Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition Vierimaa, O.; Villablanca, A.; Alimov, A.; Georgitsi, M.; Raitila, A.; Vahteristo, P.; Larsson, C.; Ruokonen, A.; Eloranta, E.; Ebeling, T. M. L.; Ignatius, J.; Aaltonen, L. A.; Leisti, J.; Salmela, P. I. 分享 收藏
Large genomic deletions in AIP in pituitary adenoma predisposition Georgitsi, Marianthi; Heliovaara, Elina; Paschke, Ralf; Kumar, Ajith V. K.; Tischkowitz, Marc; Vierimaa, Outi; Salmela, Pasi; Sane, Timo; De Menis, Ernesto; Cannavo, Salvatore; Guendogdu, Sadi; Lucassen, Anneke; Izatt, Louise; Aylwin, Simon; Bano, Gul; Hodgson, Shirley; Koch, Christian A.; Karhu, Auli; Aaltonen, Lauri A. 分享 收藏
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas Georgitsi, Marianthi; De Menis, Ernesto; Cannavo, Salvatore; Makinen, Markus J.; Tuppurainen, Karoliina; Pauletto, Paolo; Curto, Lorenzo; Weil, Robert J.; Paschke, Ralf; Zielinski, Grzegorz; Wasik, Anna; Lubinski, Jan; Vahteristo, Pia; Karhu, Auli; Aaltonen, Lauri A. 分享 收藏
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