Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Authors: Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., Paschou, Peristera

Source: In Biological Psychiatry 15 July 2024 96(2):114-124

dAUTObase: Mining gems on autoimmune diseases utilizing web visualization technologies

Authors: Antoniou, Dimitris I., Georgitsi, Marianthi A., Gkantouna, Vassiliki A., Patrinos, George P., Poulas, Konstantinos A., Tsakalidis, Athanasios K., Tzimas, Giannis E., Viennas, Emmanouil S.

Source: Proceedings of the 10th IEEE International Conference on Information Technology and Applications in Biomedicine Information Technology and Applications in Biomedicine (ITAB), 2010 10th IEEE International Conference on. :1-5 Nov, 2010

Relation: 2010 10th IEEE International Conference on Information Technology and Applications in Biomedicine (ITAB 2010)

Variants in clock genes could be associated with lower risk of type 2 diabetes in an elderly Greek population

Authors: 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

Source: Maturitas. 152:20-25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150033133.0x000001&indx=1&recIds=ETOCvdc_100150033133.0x000001

Association between CUBN gene variants, type 2 diabetes and vitamin D concentrations in an elderly Greek population

Authors: Tsekmekidou, Xanthippi, Tsetsos, Fotis, Koufakis, Theocharis, Karras, Spyridon N., Georgitsi, Marianthi, Papanas, Nikolaos, Papazoglou, Dimitrios, Roumeliotis, Athanasios, Panagoutsos, Stylianos, Thodis, Elias, Theodoridis, Marios, Pasadakis, Ploumis, Maltezos, Eustratios, Paschou, Peristera, Kotsa, Kalliopi ^*

Source: In Journal of Steroid Biochemistry and Molecular Biology April 2020 198

Anti‐dopamine D2 receptor antibodies in chronic tic disorders

Authors: Addabbo, Francesco, Baglioni, Valentina, Schrag, Anette, Schwarz, Markus J, Dietrich, Andrea, Hoekstra, Pieter J, Martino, Davide, Buttiglione, Maura, Anastasiou, Zacharias, Apter, Alan, Ball, Juliane, Bartolini, Erika, Benaroya‐Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Creti, Roberta, Debes, Nanette M, Efstratiou, Androulla, Ferro, Maria Cristina, Fremer, Carolin, Garcia‐Delgar, Blanca, Gariup, Maria, Georgitsi, Marianthi, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J, Heyman, Isobel, Huyser, Chaim, Imperi, Monica, Karagiannidis, Iordanis, Laviola, Giovanni, Macri, Simone, Madruga‐Garrido, Marcos, Margarit, Immaculada, Marotta, Anna, Meier, Ute C, Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller‐Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Openneer, Thaïra J.C., Orefici, Graziella, Paschou, Peristera, Periañez, Angela, Pellico, Vasco Alessandra, Petruzzelli, Onofrio, Plessen, Kerstin, Porcelli, Cesare, Redondo, Marina, Rizzo, Renata, Roazzi, Paolo, Roessner, Veit, Ruhrman, Daphna, Schnell, Jaana M.L., Schütze, Gregor A, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Stöber, Sara, Tallon, Marco, Gloor, Friederike Tagwerker, Walitza, Susanne, Tübing, Jennifer, Turner, Victoria, Weidinger, Elif, Tarnok, Zsanett

Source: Developmental medicine & child neurology. 62(10):1205-1212

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114965406.0x000001&indx=1&recIds=ETOCvdc_100114965406.0x000001

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Authors: Abdulkadir, Mohamed, Arbelaez, Juan, Bodmer, Benjamin, Bromberg, Yana, Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Deng, Li, Dietrich, Andrea, Dong, Shan, Duhn, Clif, Elzerman, Lonneke, Fernandez, Thomas V., Fremer, Carolin, Garcia-Delgar, Blanca, Gilbert, Donald L., Grice, Dorothy E., Hagstrøm, Julie, Hedderly, Tammy, Heiman, Gary A., Heyman, Isobel, Hoekstra, Pieter J., Hong, Hyun Ju, Huyser, Chaim, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, King, Robert A., Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L, Ludolph, Andrea G., Madruga-Garrido, Marcos, Mandell, Jeffrey D., Maras, Athanasios, Mir, Pablo, Morer, Astrid, Morris, Montana T, Müller-Vahl, Kirsten, Münchau, Alexander, Murphy, Tara L., Nasello, Cara, Plessen, Kerstin J., Poisner, Hannah, Roessner, Veit, Sanders, Stephan J., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Sun, Nawei, Thackray, Joshua K., Tischfield, Jay A., Tübing, Jennifer, Visscher, Frank, Wanderer, Sina, Wang, Sheng, Willsey, A Jeremy, Woods, Martin, Xing, Jinchuan, Zhang, Yeting, Zhao, Xin, Zinner, Samuel H., Androutsos, Christos, Barta, Csaba, Farkas, Luca, Fichna, Jakub, Georgitsi, Marianthi, Janik, Piotr, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Paschou, Peristera, Puchala, Joanna, Rizzo, Renata, Szejko, Natalia, Szymanska, Urszula, Tarnok, Zsanett, Tsironi, Vaia, Wolanczyk, Tomasz, Zekanowski, Cezary, Barr, Cathy L., Batterson, James R., Berlin, Cheston, Bruun, Ruth D., Budman, Cathy L., Cath, Danielle C., Chouinard, Sylvain, Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Davis, Lea K., Dion, Yves, Freimer, Nelson B., Grados, Marco A., Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., Mathews, Carol A., MacMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Pauls, David L., Posthuma, Danielle, Ramensky, Vasily, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Scharf, Jeremiah M., Singer, Harvey S., Smit, Jan, Sul, Jae-Hoon, Yu, Dongmei, Kumar, Yogesh, Morris, Montana T., Yang, Zhiyu, Padmanabhuni, Shanmukha S., Khalifa, Najah, Dahl, Niklas, Buxbaum, Joseph D., De Rubeis, Silvia, Willsey, A. Jeremy

Source: In Cell Reports 25 September 2018 24(13):3441-3454

Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging

Authors: Alexander, John, Ströbel, Thomas, Georgitsi, Marianthi, Hönigschnabl, Selma, Reiner, Angelika, Fischer, Peter, Tsifintaris, Margaritis, Paschou, Peristera, Kovacs, Gabor G.

Source: Alzheimer disease and associated disorders. 33(1):7-14

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100077073472.0x000001&indx=1&recIds=ETOCvdc_100077073472.0x000001

European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents

Authors: Schrag, Anette, Martino, Davide, Apter, Alan, Ball, Juliane, Bartolini, Erika, Benaroya-Milshtein, Noa, Buttiglione, Maura, Cardona, Francesco, Creti, Roberta, Efstratiou, Androulla, Gariup, Maria, Georgitsi, Marianthi, Hedderly, Tammy, Heyman, Isobel, Margarit, Immaculada, Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller, Norbert, Müller-Vahl, Kirsten, Münchau, Alexander, Orefici, Graziella, Plessen, Kerstin J., Porcelli, Cesare, Paschou, Peristera, Rizzo, Renata, Roessner, Veit, Schwarz, Markus J., Steinberg, Tamar, Tagwerker Gloor, Friederike, Tarnok, Zsanett, Walitza, Susanne, Dietrich, Andrea, Hoekstra, Pieter J.

Source: European child & adolescent psychiatry. 28(1):91-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100126890148.0x000001&indx=1&recIds=ETOCvdc_100126890148.0x000001

Variant Ranker: a web-tool to rank genomic data according to functional significance

Authors: Alexander, John, Mantzaris, Dimitris, Georgitsi, Marianthi, Drineas, Petros, Paschou, Peristera

Source: BMC bioinformatics. 18(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163637238.0x000001&indx=1&recIds=ETOCvdc_100163637238.0x000001

Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene

Authors: Vierimaa, Outi, Georgitsi, Marianthi, Lehtonen, Rainer, Vahteristo, Pia, Kokko, Antti, Raitila, Anniina, Tuppurainen, Karoliina, Salmela, Pasi I., Paschke, Ralf, Gündogdu, Sadi, De Menis, Ernesto, Mäkinen, Markus J., Launonen, Virpi, Karhu, Auli, Aaltonen, Lauri A.

Source: Science, 2006 May . 312(5777), 1228-1230.

Access URL: https://www.jstor.org/stable/3846271

PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders.

Authors: 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

Source: Frontiers in Immunology; 2023, p01-15, 15p

Subject Terms: GENETIC correlations, AUTOIMMUNE diseases, JUVENILE idiopathic arthritis, DISEASE risk factors, TYPE 1 diabetes, HLA histocompatibility antigens

Geographic Terms: UNITED Kingdom

Population-ethnic group specific genome variation allele frequency data: A querying and visualization journey

Authors: Viennas, Emmanouil, Gkantouna, Vassiliki, Ioannou, Marina, Georgitsi, Marianthi, Rigou, Maria, Poulas, Konstantinos, Patrinos, George P., Tzimas, Giannis

Source: In Genomics August 2012 100(2):93-101

Molecular Diagnosis of Pituitary Adenoma Predisposition Caused by Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations

Authors: Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, Tuppurainen, Karoliina, Mäkinen, Markus J., Vierimaa, Outi, Paschke, Ralf, Saeger, Wolfgang, van der Luijt, Rob B., Sane, Timo, Robledo, Mercedes, De Menis, Ernesto, Weil, Robert J., Wasik, Anna, Zielinski, Grzegorz, Lucewicz, Olga, Lubinski, Jan, Launonen, Virpi, Vahteristo, Pia, Aaltonen, Lauri A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Mar 01. 104(10), 4101-4105.

Access URL: https://www.jstor.org/stable/25426788

Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

Authors: Tafrali, Christina, Paizi, Arsinoi, Borg, Joseph, Radmilovic, Milena, Bartsakoulia, Marina, Giannopoulou, Emily, Giannakopoulou, Olga, Stojiljkovic-Petrovic, Maja, Zukic, Branka, Poulas, Konstantinos, Stavrou, Eleana F, Lambropoulou, Polyxeni, Kourakli, Alexandra, Felice, Alexander E, Papachatzopoulou, Adamantia, Philipsen, Sjaak, Pavlovic, Sonja, Georgitsi, Marianthi, Patrinos, George P

Source: Pharmacogenomics. 14(5):469-483

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121259346.0x000001&indx=1&recIds=ETOCvdc_100121259346.0x000001

A Single Nucleotide Polymorphism in the HBBP1 Gene in the Human β-Globin Locus is Associated with a Mild β-Thalassemia Disease Phenotype

Authors: Giannopoulou, Emily, Bartsakoulia, Marina, Tafrali, Christina, Kourakli, Alexandra, Poulas, Konstantinos, Stavrou, Eleana F., Papachatzopoulou, Adamantia, Georgitsi, Marianthi, Patrinos, George P.

Source: Hemoglobin. 36(5):433-445

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105340410.0x000001&indx=1&recIds=ETOCvdc_100105340410.0x000001

6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner

Authors: Kotur, Nikola, Stankovic, Biljana, Kassela, Katerina, Georgitsi, Marianthi, Vicha, Anna, Leontari, Iliana, Dokmanovic, Lidija, Janic, Dragana, Krstovski, Nada, Klaassen, Kristel, Radmilovic, Milena, Stojiljkovic, Maja, Nikcevic, Gordana, Simeonidis, Argiris, Sivolapenko, Gregory, Pavlovic, Sonja, Patrinos, George P, Zukic, Branka

Source: Pharmacogenomics. 13(3):283-295

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121258017.0x000001&indx=1&recIds=ETOCvdc_100121258017.0x000001

KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

Authors: Borg, Joseph, Phylactides, Marios, Bartsakoulia, Marina, Tafrali, Christina, Lederer, Carsten, Felice, Alexander E, Papachatzopoulou, Adamantia, Kourakli, Alexandra, Stavrou, Eleana F, Christou, Soteroula, Hou, Jun, Karkabouna, Sophia, Lappa-Manakou, Christina, Özgur, Zeliha, van IJcken, Wilfred, von Lindern, Marieke, Grosveld, Frank G, Georgitsi, Marianthi, Kleanthous, Marina, Philipsen, Sjaak, Patrinos, George P

Source: Pharmacogenomics. 13(13):1487-1500

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121257546.0x000001&indx=1&recIds=ETOCvdc_100121257546.0x000001

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27 Kip1 and p18 INK4C) mutations

Authors: Georgitsi, Marianthi

Source: In Best Practice & Research Clinical Endocrinology & Metabolism 2010 24(3):425-437

Mice with Inactivation of Aryl Hydrocarbon Receptor-Interacting Protein ( Aip) Display Complete Penetrance of Pituitary Adenomas with Aberrant ARNT Expression

Authors: Raitila, Anniina ^*, Lehtonen, Heli J. ^*, Arola, Johanna, Heliövaara, Elina ^*, Ahlsten, Manuel ^*, Georgitsi, Marianthi ^*, Jalanko, Anu, Paetau, Anders, Aaltonen, Lauri A. ^*, Karhu, Auli ^*

Source: In The American Journal of Pathology 2010 177(4):1969-1976

Transcriptional regulation and pharmacogenomics

Authors: Georgitsi, Marianthi, Zukic, Branka, Pavlovic, Sonja, Patrinos, George P

Source: Pharmacogenomics. 12(5):655-673

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121257092.0x000001&indx=1&recIds=ETOCvdc_100121257092.0x000001