Alper Eken, Bülent Soyupak, Meltem Açıl, Taner Arpacı, Tuğana Akbaş,
We compare and evaluate the safety, efficacy, and short-term outcomes of the new GreenLight XPS 180W (GL-XPS) laser system with the former generation GreenLight HPS 120W (GL-HPS) system for the treatment of benign prostatic hyperplasia (BPH) in a prospective nonrandomized single-centre study.From May 2012 to June 2013, 161 consecutive patients with lower urinary tract symptoms secondary to BPH were included: 88 patients were treated with the GL-HPS system and 73 were treated with the GL-XPS system. ...
Tópico(s): Pelvic floor disorders treatments
2015 - | Canadian Urological Association Journal
Objective To evaluate the safety and efficacy of the 180-W GreenLight XPS laser system for the treatment of benign prostatic hyperplasia in patients taking oral anticoagulants. Methods All consecutive patients admitted for lower urinary tract symptoms associated with benign prostatic hyperplasia from November 2012 to October 2016 and who underwent photoselective vaporization of the prostate with the 180-W GreenLight XPS laser were included in the study. The perioperative outcomes examined were the ...
Tópico(s): Pelvic floor disorders treatments
2018 - SAGE Publishing | Journal of International Medical Research
Tahir Serkan Irmak, Seda Yolsal‐Çevikbilen, Tuna Eken, Bülent Doğan, Ceyhun Erman, Evrim Yavuz, Hakan Alçık, Peter Gaebler, Ali Pınar, Tuncay Taymaz,
SUMMARY The Central Marmara Sea region hosts the northwestern branch of the North Anatolian Fault Zone (NAFZ) with its known seismic gap between the 1912 Ganos (Mw 7.2) and 1999 Izmit (Mw 7.4) major devastating earthquakes and thus poses a significant seismic hazard potential for the megacity Istanbul. The 26 September 2019 Mw 5.7 Silivri High-Kumburgaz Basin (central Marmara Sea) earthquake ruptured a thrust fault with a minor strike-slip component at the north of the eastern end of this gap relatively ...
Tópico(s): Earthquake Detection and Analysis
2021 - Oxford University Press | Geophysical Journal International
Tülay Kaya Eken, Sabri Bülent Tank, M. K. Tunçer, I. Igor Rokoityansky, E. Tolak, Timur Savchenko,
Abstract The magnetotelluric (MT) method has been applied to show resistivity variations in the vicinity of the epicenter of the 1999 Düzce earthquake ( M w = 7.2) where a large rupture velocity difference was seen between the western and eastern parts of the epicenter. MT data for frequencies ranging between 320 and 0.0005 Hz were acquired along two parallel profiles to the west and the east of Düzce earthquake’s epicenter. Both profiles crossed the Düzce basin and the Düzce fault in the north and the ...
Tópico(s): Seismic Waves and Analysis
2009 - Springer Nature | Earth Planets and Space
Eken’s essay contends that the mass insurrection that resulted in a fifteen-day occupation of Gezi Park in Istanbul in June 2013 can be seen as a response to the ongoing implementation of new forms of social control in Turkey. Itself the result of a process of convergence with global capitalism, the new regime of domination capitalizes on culture as a site for monitoring social desire. In Turkey, “memory” and “minorities” emerged as two privileged topics of cultural discourse through which the state ...
Tópico(s): Populism, Right-Wing Movements
2014 - Duke University Press | South Atlantic Quarterly
Tülay Kaya Eken, Takafumi Kasaya, Sabri Bülent Tank, Yasuo Ogawa, M. K. Tunçer, Naoto Oshiman, Yoshimori Honkura, Masaki Matsushima,
The first magnetotelluric study in the Marmara Sea, Turkey, was undertaken to resolve the structure of the crust and upper mantle in the region, and to determine the location of the westward extension of the North Anatolian Fault (NAF) in the Çinarcik area. Long-period ocean bottom magnetotelluric data were acquired at six sites along two profiles crossing the Çinarcik Basin, where a significant increase in microseismic activity was observed following the devastating 1999 İzmit and Düzce earthquakes. ...
Tópico(s): Geochemistry and Geologic Mapping
2013 - Oxford University Press | Geophysical Journal International
Ali Avcı, Bülent Erol, Cenker Eken, Yaşar Özgök,
Nonpalpable testicular masses are usually diagnosed during routine ultrasonography (US) examinations for other conditions. There are conflicting results on the final diagnosis and management of these lesions. In the present study we report the results of a large US series of 5104 patients on nonpalpable testicular masses and discuss the management of these patients.This retrospective observational study was performed in a secondary care military hospital. A total of 5104 patients underwent a US and ...
Tópico(s): Urologic and reproductive health conditions
2008 - Wiley | International Journal of Urology
Cenker Eken, Dilek Durmaz, Bülent Erol,
Renal colic is one of the painful conditions in emergency medicine practice. Opiates and nonsteroidal anti-inflammatory drugs are the cornerstone of pain management in renal colic. However, alternative procedures should be considered in patients refractory to conventional therapies. We present a case of renal colic successfully treated by trigger point injection that was refractory to 150 microg fentanyl and 5 mg morphine.
Tópico(s): Acupuncture Treatment Research Studies
2009 - Elsevier BV | The American Journal of Emergency Medicine
Suna Kabil Kucur, Meryem Kürek Eken, Ilhan Sanli, Tayfun Kutlu, Bülent Emre Bilgiç, Şükriye Leyla Altuntaş, Özge Çevik, Enis Özkaya,
To evaluate the effect of serum and follicular fluid (ff) Chemerin levels on Assisted Reproductive Technology (ART) outcomes in lean patients with PCOS.The study included 76 infertile reproductive aged women, between 21-35 years who underwent intracytoplasmic sperm injection (ICSI) procedure. Serum and ff Chemerin levels were evaluated. Fertilization and clinical pregnancy rate were compared between the groups.Serum (13.32 ng/ml versus 29.82 ng/ml) and ff chemerin (35.90 ng/ml versus 87.60 ng/ml) levels ...
Tópico(s): Endometriosis Research and Treatment
2021 - Informa | Gynecological Endocrinology
V.T. Yılmaz, Cenker Eken, Ali Avcı, Adil Duman, Yaşar Tuna, Mete Akın, Bülent Yıldırım,
Brain natriuretic peptide is a cardiac neurohormone secreted from ventricles in response to end diastolic pressure and increased volume. It has diuretic, natriuretic and vasodilator effects. In cirrhosis, a hyperdynamic circulation occurs because of hemodynamic and hemostatic alterations. The increase in brain natriuretic peptide concentration shows parallelism with the stage of cirrhosis. The aim of this study is to investigate the relation of increased brain natriuretic peptide level with the ...
Tópico(s): Organ Transplantation Techniques and Outcomes
2010 - | The Turkish Journal of Gastroenterology
İlhan Şanverdi, Enis Özkaya, Suna Kabil Kucur, Dilsat Bilen, Meryem Kürek Eken, Bülent Emre Bilgiç,
Abstract Objectives To determine the predictive value of antral follicle diameter variance within each ovary for ovarian response in cases with normal ovarian reserve tests. Methods This is a prospective observational study. One hundred and thirty nine infertile women who underwent ART in IVF-ICSI unit of Zeynep Kamil women and children’s Health Training and research hospital between January 2017 to June 2017 were recruited. Blood samples were collected on day 2/day 3 for assessment of serum FSH ...
Tópico(s): Ovarian cancer diagnosis and treatment
2018 - Thieme Medical Publishers (Germany) | Experimental and Clinical Endocrinology & Diabetes
Barbaros Şahin Karagün, Utku Aygüneş, Alper Eken, Tuğana Akbaş, Engin Melek, Bülent Antmen,
BK virus-associated hemorrhagic cystitis is a common complication of allogeneic hematopoietic stem cell transplant. It is known to be associated with cyclophosphamide therapy and the intensity of the conditioning regimen as well as infection with the BK virus. Data are limited for BK virus-associated hemorrhagic cystitis in pediatric recipients of allogeneic hematopoietic stem cell transplant. Therefore, we aimed to identify the risk factors and etiology of BK virus-associated hemorrhagic cystitis ...
Tópico(s): Polyomavirus and related diseases
2021 - Başkent University | Experimental and Clinical Transplantation
Bülent Erol, Ali Avcı, Cenker Eken, Yaşar Özgök,
Zona zoster infection is often associated with painful erythematous vesicular eruptions of the skin or mucous membranes. Varicella zoster virus which stays latent in the sensorial root ganglia causes zona zoster infection. The most recognized feature of zona zoster is the dermatomal distribution of vesicular rashes. In the present case report, we state an unusual presentation of sacral zona zoster with urinary retention, erectile dysfunction and meningitis.
Tópico(s): Dermatology and Skin Diseases
2009 - Karger Publishers | Urologia Internationalis
Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hákon Hákonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna‐Elina Lehesjoki, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El‐Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birutė Tumienė, Lynette G. Sadleir, Chontelle King, Emily Mountier, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Uluç Yiş, Pınar Topaloğlu, Bülent Kara, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nicholas Bass, Andrew M. McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Célia Barreto Carvalho, Eric D. Achtyes, M.H. Azevedo, Roman Kotov, Douglas S. Lehrer, Dolores Malaspina, Stephen R. Marder, Helena Medeiros, Christopher P. Morley, Diana O. Perkins, Janet L. Sobell, P.F. Buckley, Fabìo Macciardi, Mark Hyman Rapaport, James A. Knowles, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey Gabriel, Mark J. Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel F. Berkovic, Benjamin M. Neale,
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies ( ...
Tópico(s): Epilepsy research and treatment
2019 - Elsevier BV | The American Journal of Human Genetics
Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J. Daly, Aarno Palotie, Dennis Lal, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Tracy Air, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, David B. Goldstein, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Brigid M. Regan, Caitlin A. Bennett, Susannah T. Bellows, Esther C Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Patrick Kwan, Slavé Petrovski, Marian Todaro, Sarah Weckhuysen, Hannah Stamberger, Peter De Jonghe, Chantal Depondt, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna‐Elina Lehesjoki, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Sanjay M. Sisodiya, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Anthony G Marson, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Patrick Kwan, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung Lui, Nina Barišić, Gianpiero L. Cavalleri, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El‐Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Pasquale Striano, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Lorenzo Muccioli, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birutė Tumienė, Rūta Mameniškienė, Algirdas Utkus, Rūta Praninskienė, Jurgita Grikinienė, Rūta Samaitienė, Lynette G. Sadleir, Chontelle King, Emily Mountier, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Uluç Yiş, Pınar Topaloğlu, Bülent Kara, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Beth Rosen Sheidley, Catherine Shain, Annapurna Poduri, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Dennis Dlugos, Warren Lo, Michael Privitera, Jacqueline A. French, Patrick Cossette, Steven C. Schachter, Hákon Hákonarson, Ruben Kuzniecky, Dennis Dlugos, Orrin Devinsky, Ruben Kuzniecky, Jacqueline A. French, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo,
Abstract Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2020 - Oxford University Press | Brain
Taner Arpacı, İlgen Şaşmaz, Tuğana Akbaş, Alper Eken, Anıl Özgür, Bülent Antmen,
Following joint hemorrhages, intramuscular hemorrhages are the second most prevalent bleeding pattern in hemophiliac patients. hematomas of the iliopsoas muscle are a well‑known complication of hemophilia; however, obturator muscle hematomas are rare. We herein report a case of spontaneous bleeding of the bilateral external obturator muscles, which occured three times within a period of 9 months in a hemophilia patient with factor VIII inhibitors. To the best of our knowledge, this is the first ...
Tópico(s): Infectious Diseases and Tuberculosis
2016 - Spandidos Publishing | Molecular and Clinical Oncology
Çiğdem Yayla Abide, Enis Özkaya, İlhan Şanverdi, Evrim Bostancı Ergen, Meryem Kürek Eken, Belgin Devranoğlu, Bülent Emre Bilgiç, Çetin Kılıççı, S Eser,
<b><i>Objective:</i></b> To compare embryo transfer (ET) technique based on catheter rotation during its withdrawal in cases with unexplained infertility in a prospective, randomized trial (NCT03097042). <b><i>Methods:</i></b> Two hundred intracytoplasmic sperm injection (ICSI) patients undergoing ET with cleaving or blastocyst-stage fresh embryos were randomized into 2 groups: cases with (<i>n</i> = 100), and without (<i>n</i> = 100) catheter rotation ...
Tópico(s): Prenatal Screening and Diagnostics
2018 - Karger Publishers | Gynecologic and Obstetric Investigation
Gülşah İlhan, Besim Haluk Bacanakgıl, Ayşe Köse Vuruşkan, Meryem Kürek Eken, Ayşe Filiz Gökmen Karasu, Bülent Emre Bilgiç, Ayça Kubat Küçükyurt,
Oocyte matched follicular fluid oxidant, antioxidant status, and pro- and anti-inflammatory cytokine levels were assessed to reveal a possible effect of local-intrafollicular levels of these markers on the individual oocyte with its quality, ability to achieve fertilization, further embryo development, and pregnancy. A cross-sectional study of infertile women with diminished ovarian reserve undergoing antagonist protocol in vitro fertilization (IVF); in the form of ICSI, and fresh single embryo transfer ...
Tópico(s): Reproductive System and Pregnancy
2023 - Wolters Kluwer | Medicine
Abdul-Karim Mustapha, Bülent Eken,
Tópico(s): Historical Geopolitical and Social Dynamics
2001 - Routledge | Rethinking Marxism
Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hákon Hákonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter DeJonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas vanBaalen, Sarah vonSpiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna‐Elina Lehesjoki, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El‐Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birutė Tumienė, Lynette G. Sadleir, Chontelle King, Emily Mountier, Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Uluç Yiş, Pınar Topaloğlu, Bülent Kara, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nicholas Bass, Andrew M. McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Célia Barreto Carvalho, Eric D. Achtyes, M.H. Azevedo, Roman Kotov, Douglas S. Lehrer, Dolores Malaspina, Stephen R. Marder, Helena Medeiros, Christopher P. Morley, Diana O. Perkins, Janet L. Sobell, P.F. Buckley, Fabìo Macciardi, Mark Hyman Rapaport, James A. Knowles, Genomic Psychiatry Cohort, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey Gabriel, Mark J Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel F. Berkovic, Benjamin M. Neale,
Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a comprehensive range of biologically informed gene-sets presumed to be implicated in epileptogenesis.The burden of 12 URV types in 92 gene-sets was compared between cases and controls using whole exome sequencing data from individuals of European descent with developmental and epileptic encephalopathies (DEE, n = 1,003), genetic generalized ...
Tópico(s): Mitochondrial Function and Pathology
2021 - Elsevier BV | EBioMedicine
Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael E. Talkowski, Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, David B. Goldstein, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Stephanie L. Leech, Costin Leu, David Lewis‐Smith, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Chantal Depondti, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Christou Yiolanda, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias H. Baumgartner, Randi von Wrede, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele, Christian Hengsbach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Ingo Borggräfe, Christoph J. Schankin, Susanne Schubert‐Bast, Herbert Schreiber, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna‐Elina Lehesjoki, Sylvain Rheims, Gaëtan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartoloméi, Édouard Hirsch, Véronique Michel, Francine Chassoux, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko‐Shadrach, Charlotte Lawthom, Joe Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Patrick Kwan, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin H. T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El‐Naggar, Peter Widdess‐Walsh, Nina Barišić, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, Antonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpietro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lorenzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, Atsushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie K. Zgheib, Birutė Tumienė, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Pınar Topaloğlu, Bülent Kara, Uluç Yiş, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Meng‐Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I‐Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad Najm, Dennis Lal, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Dennis Dlugos, Warren Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan M. Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidiswaran, Eryn Fitch, Charles R. Newton, Symon M. Kariuki, Ryan G. Wagner, Seth Owusu‐Agyei, Andrew J. Cole, Christopher M. McGraw, S. Anthony Siena, Lea K. Davis, Donald Hucks, Annika Faucon, David Wu, Bassel Abou‐Khalil, Kevin F. Haas, R. Taneja, Ingo Helbig, Costin Leu, Dennis Lal,
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, ...
Nature Portfolio
Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Yiolanda Christou, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias Baumgartner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele, Christian Hengsbach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Ingo Borggräfe, Christoph J. Schankin, Susanne Schubert‐Bast, Herbert Schreiber, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna‐Elina Lehesjoki, Sylvain Rheims, Gaëtan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartoloméi, Édouard Hirsch, Véronique Michel, Francine Chassoux, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko‐Shadrach, Charlotte Lawthom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael Johnson, Pauls Auce, Graeme J. Sills, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El‐Naggar, Peter Widdess‐Walsh, Nina Barišić, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, Antonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpietro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisabetta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lorenzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, Atsushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie K. Zgheib, Birutė Tumienė, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Pınar Topaloğlu, Bülent Kara, Uluç Yiş, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, YeşÇiğdem Özkara, Meng‐Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I‐Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan M. Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidiswaran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein,
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures ...
Tópico(s): Epilepsy research and treatment
2021 - Elsevier BV | The American Journal of Human Genetics
Sunay Usluer, Seda Salar, Mutluay Arslan, Uluç Yiş, Bülent Kara, Pınar Tektürk, Betül Baykan, Cihan Meral, Dilşad Türkdoğan, Nerses Bebek, Özlem Yalçın Çapan, Aslı Gündoğdu Eken, S. Hande Çağlayan,
The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotype-phenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the ...
Tópico(s): Ion channel regulation and function
2016 - Elsevier BV | Seizure
The discussions of the end of cinema tend to privilege the emergence of digital technology as a turning point. In this paper, I argue for the centrality of the category of the “viewer”, which as a concept makes visible the essence of the medium of cinema. This essence is the preservation of time in which the viewer has a stake in relation to his or her memory. This then shows the limits for a possible discussion of the end of cinema. If there is a certain type of film that leaves no room for the ...
Tópico(s): Art, Politics, and Modernism
2016 - Turkish Online Journal of Qualitative Inquiry (TOJQI) | International Journal of Social Sciences and Education Research
Abstract This article reveals a central yet hitherto unsuspected meditation in Wallace Stevens on the problem of the other person in relation to the concept of the other construed by Gilles Deleuze as the “expression of a possible world” (1990: 308). It demonstrates that, seen from this perspective, the figure of subjectivity appears to be a rhetorical means in the service of a poetics centered on the other. In readings of Stevens, it traces the way in which he thinks through the question of the other ...
Tópico(s): Samuel Beckett and Modernism
2017 - De Gruyter | Anglia - Zeitschrift für englische Philologie
Emin Aydur, Bülent Erol, Lütfi Tahmaz, Hasan Cem Irkılata, Cenker Eken, Ahmet Fuat Peker,
A 21-year-old man presented with an enlarged giant hemangioma on glans penis which also causes an erectile dysfunction (ED) that partially responded to the intracavernous injection stimulation test. Although the findings in magnetic resonance imaging (MRI) indicated a glandular hemangioma, penile colored Doppler ultrasound revealed an invaded cavernausal hemangioma to the glans. Surgical excision was avoided according to the broad extension of the gland lesion. Holmium laser coagulation was applied ...
Tópico(s): Genital Health and Disease
2008 - Medknow | Asian Journal of Andrology
Banu Yiğit, Gürkan Yetkın, Bülent Çıtgez, Kamile Gülçin Eken, Hamdi Özşahin,
Pilonidal sinüs cilt ve cilt altı dokusunun kronik inflamatuar bir hastalığı olup,akıntılı bir sinüs ağzı ve apse ile karakterize, içi kıl yumağı dolu bir kisttir. Hastalık tipik olarak sakrokoksigeal bölgede görülür. Ancak nadiren saçlı deride, burunda, boyunda, intermammarian (sternal) alanda, aksillada, parmak arasında (interdijital bölge), kasıkta ve dış genital bölgede görülebilir. Çalışmamızda çok nadir olarak rastlanılan intermammarian (sternal) pilonidal sinüs olgusu, literatür eşliğinde sunuldu.
Tópico(s): Colorectal and Anal Carcinomas
2020 - Journal of Surgery and Medicine | Journal of Surgery and Medicine
Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Yiolanda Christou, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias Baumgartner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele, Christian Hengsbach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Ingo Borggräfe, Christoph J. Schankin, Susanne Schubert‐Bast, Herbert Schreiber, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna‐Elina Lehesjoki, Sylvain Rheims, Gaëtan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartoloméi, Édouard Hirsch, Véronique Michel, Francine Chassoux, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko‐Shadrach, Charlotte Lawthom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El‐Naggar, Peter Widdess‐Walsh, Nina Barišić, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, Antonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpietro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisabetta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lorenzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Ida Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, Atsushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie K. Zgheib, Birutė Tumienė, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Pınar Topaloğlu, Bülent Kara, Uluç Yiş, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Meng‐Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I‐Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan M. Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidiswaran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein,
(The American Journal of Human Genetics 108, 965–982; June 3, 2021) In the original version of this paper, the following authors were omitted from the list of Epi25 Collaborative consortium members: Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, and Çiğdem Özkara. The consortium member list has been corrected online, and the supplemental information has been corrected to include these individuals’ affiliations. The authors apologize for this omission. ...
Tópico(s): RNA modifications and cancer
2021 - Elsevier BV | The American Journal of Human Genetics
Gökhan Karcıoğlu, Sabri Bülent Tank, Aysan Gürer, Elif Tolak Çiftçi, Tülay Kaya Eken, M. K. Tunçer,
Tópico(s): Geophysical Methods and Applications
2013 - Springer Science+Business Media | Studia Geophysica et Geodaetica
Atay Vural, Gülşah Şimşir, Şeyma Tekgül, Cemile Koçoğlu, Fulya Akçimen, Ece Kartal, Nesli Ece Şen, Suna Lahut, Özgür Ömür, Nazan Saner, Tuğçe Gül, Elif Bayraktar, Robin Palvadeau, Ceren Tunca, Caroline Pirkevi, Aslı Gündoğdu Eken, Irmak Şahbaz, Müge Kovancılar Koç, Özgür Öztop Çakmak, Haşmet Hanağası, Başar Bılgıç, Mefküre Eraksoy, Ayşegül Gündüz, Hülya Apaydın, Güneş Kızıltan, Sibel Özekmekçi, Aksel Sıva, Ayşe Altıntaş, Zeynep Ece Kaya Güleç, Yeşim Parman, Piraye Oflazer, Feza Deymeer, Hacer Durmuş, Erdi Şahin, Arman Çakar, Zeynep Tüfekçıoğlu, Pınar Tektürk, Osman Corbali, Hülya Tireli, Gülden Akdal, Uluç Yiş, Semra Hız, İhsan Şükrü Şengün, Elçin Bora, Gül Serdaroğlu, Sevda Erer Özbek, Kadriye Ağan, Dilek İnce Günal, Önder Us, Semiha Kurt, Dürdane Aksoy, Ayşe Bora Tokçaer, Muhsin Elmas, Murat Gültekin, Sefer Kumandaş, Hamit Acer, Gül Demet Kaya Özçora, Vıldan Yayla, Aysun Soysal, Gençer Genç, Halil Güllüoğlu, Dilcan Kotan, Zeynep Özözen Ayas, Hüseyin Şahin, Ersin Tan, Meral Topçu, Esen Saka Topçuoğlu, Cenk Akbostancı, Filiz Koç, Sibel Ertan, Bülent Elibol, A. Nazlı Başak,
Abstract Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. Objective To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. Methods Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by ...
Tópico(s): Neurological disorders and treatments
2021 - Wiley | Movement Disorders