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Juan Carlos

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https://www.readbyqxmd.com/read/28732268/validation-comparison-and-combination-of-algorithms-for-automatic-detection-of-pulmonary-nodules-in-computed-tomography-images-the-luna16-challenge
#1
Arnaud Arindra Adiyoso Setio, Alberto Traverso, Thomas de Bel, Moira S N Berens, Cas van den Bogaard, Piergiorgio Cerello, Hao Chen, Qi Dou, Maria Evelina Fantacci, Bram Geurts, Robbert van der Gugten, Pheng Ann Heng, Bart Jansen, Michael M J de Kaste, Valentin Kotov, Jack Yu-Hung Lin, Jeroen T M C Manders, Alexander Sóñora-Mengana, Juan Carlos García-Naranjo, Evgenia Papavasileiou, Mathias Prokop, Marco Saletta, Cornelia M Schaefer-Prokop, Ernst T Scholten, Luuk Scholten, Miranda M Snoeren, Ernesto Lopez Torres, Jef Vandemeulebroucke, Nicole Walasek, Guido C A Zuidhof, Bram van Ginneken, Colin Jacobs
Automatic detection of pulmonary nodules in thoracic computed tomography (CT) scans has been an active area of research for the last two decades. However, there have only been few studies that provide a comparative performance evaluation of different systems on a common database. We have therefore set up the LUNA16 challenge, an objective evaluation framework for automatic nodule detection algorithms using the largest publicly available reference database of chest CT scans, the LIDC-IDRI data set. In LUNA16, participants develop their algorithm and upload their predictions on 888 CT scans in one of the two tracks: 1) the complete nodule detection track where a complete CAD system should be developed, or 2) the false positive reduction track where a provided set of nodule candidates should be classified...
July 13, 2017: Medical Image Analysis
https://www.readbyqxmd.com/read/28729370/anterior-segment-optical-coherence-tomography-angle-and-vault-analysis-after-toric-and-non-toric-implantable-collamer-lens-v4c-implantation-in-patients-with-high-myopia
#2
Guillermo Garcia-De la Rosa, Andrew Olivo-Payne, Juan Carlos Serna-Ojeda, Maria Sandra Salazar-Ramos, Alejandro Lichtinger, Arturo Gomez-Bastar, Arturo Ramirez-Miranda, Alejandro Navas, Enrique O Graue-Hernandez
OBJECTIVE: To assess anterior segment changes, including iridocorneal angle and vault, after toric and non-toric implantable collamer lens (ICL) V4c (STAAR Surgical AG) implantation under different lighting conditions. METHODS: Longitudinal, prospective, case series. Patients with high myopia (>6 dioptres) underwent toric and non-toric ICL V4c implantation. Optical coherence tomography measurements were taken under different lighting conditions preoperatively and at 1 week and 1, 6 and 12 months of follow-up...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729040/-long-term-effects-of-intensive-intervention-on-changes-in-lifestyle-in-patients-with-hyperfibrinogenaemia-and-moderate-high-cardiovascular-risk
#3
Laura Illamola Martin, Juan José Rodríguez Cristobal, Carlos Alonso-Villaverde, Betlem Salvador-González, Irene Moral Pelaez
OBJECTIVES: To determine whether the benefit on cardiovascular risk factors (CVRF) persists 5 years after an intensive intervention in lifestyle (LS) that lasted 2 years, in patients with hyperfibrinogenaemia and moderate or high cardiovascular risk. DESIGN: multicentre prospective observational study. LOCATION: 13 Primary Care Centres in Barcelona and Baix Llobregat. PARTICIPANTS: A total of 300 patients who completed the EFAP study (146 intervention group, 154 control group)...
July 17, 2017: Atencion Primaria
https://www.readbyqxmd.com/read/28728796/-lifetime-psychiatric-disorders-a-comparision-study-between-offspring-of-parents-with-bipolar-disorder-type-i-versus-the-offspring-of-community-controls-parents
#4
Juan David Palacio-Ortiz, Cristian Esteban Peña-Quintero, María Alejandra Gómez-Valero, Paula Andrea Bustamante-Gómez, Pilar Helena Arroyave-Sierra, Cristian David Vargas-Upeguí, Carlos López-Jaramillo
INTRODUCTION: Literature reports show that Bipolar Offspring (BO) present with a wide range of psychiatric disorders. Comparison between BO and Control Parent Offspring (CPO) may help to identify which psychopathological findings are specific to this high-risk group. OBJECTIVE: To compare the psychopathological characteristics between a group of BO type-I and a group of CPO, by identifying the presence of psychiatric disorders according the DSM-IV-TR. METHODS: A descriptive-correlational, cross-sectional and comparative study was conducted with 127 offspring of parents with bipolar disorder type-I from the multimodal intervention program (PRISMA) and with 150 CPO between 6 and 30 years of age...
July 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28728742/a-clinical-score-model-to-predict-lethal-events-in-young-patients-%C3%A2-19-years-with-the-brugada-syndrome
#5
M Cecilia Gonzalez Corcia, Juan Sieira, Gudrun Pappaert, Carlo de Asmundis, Gian Battista Chierchia, Andrea Sarkozy, Pedro Brugada
Risk stratification in Brugada syndrome in young patients remains challenging. We investigated the clinical characteristics, prognosis, and risk in young patients with the Brugada syndrome. We studied 95 patients with the Brugada syndrome aged ≤19 years. The median age at diagnosis was 12.9 years. The clinical presentation was sudden cardiac death in 7% and syncope in 21%. The remaining 72% were asymptomatic at diagnosis. Electrical abnormalities were present in 36%, including spontaneous type I electrocardiogram (12%), sinus node dysfunction (9%), atrioventricular block (17%), intraventricular conduction delay (16%), and atrial arrhythmias (8%)...
June 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28728561/understanding-the-genetics-behind-complex-human-disease-with-large-scale-ipsc-collections
#6
Amanda E Yamasaki, Athanasia D Panopoulos, Juan Carlos Izpisua Belmonte
Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
July 20, 2017: Genome Biology
https://www.readbyqxmd.com/read/28728359/influence-of-supplemental-canola-or-soybean-oil-on-milk-yield-fatty-acid-profile-and-postpartum-weight-changes-in-grazing-dairy-goats
#7
Israel Lerma-Reyes, G D Mendoza-Martínez, Rolando Rojo-Rubio, Mario Mejia, Juan Carlos Garcia-Lopez, Hector Aaron Lee-Rangel
Objective: This experiment was designed to evaluate the effect of supplementation with soybean or canola oil on milk production and the composition of long chain fatty acids as well as weight changes in the goats and their kids. Methods: Thirty nine mulitparous crossed Alpine x Nubian goats (initial BW 43.5 ± 1.7 kg) from the day of parturition were assigned to the treatments: grazing control (n=15); grazing plus 20 mL/goat/d of supplemental soybean oil (n=12); and grazing plus 20 mL/goat/d of supplemental canola oil (n=12)...
June 27, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28727985/comparative-study-and-analytical-verification-of-pcr-methods-for-the-diagnosis-of-congenital-chagas-disease
#8
Carolina Inés Cura, Juan Carlos Ramírez, Marcelo Rodríguez, Constanza Lopez-Albízu, Lucía Irazu, Karenina Scollo, Sergio Sosa-Estani
Congenital infection is currently the first cause of new cases of Chagas disease in Argentina and nonendemic areas worldwide. Its diagnosis is of utmost importance to guarantee curative treatment. To improve such diagnosis, a transfer process of PCR tests to the national laboratory network has been initiated. We performed a comparative study of four PCR assays [two end-point PCR and two duplex real-time quantitative PCR (qPCR) procedures] to detect Trypanosoma cruzi DNA in blood samples. Because satellite DNA and kinetoplastid DNA qPCR methods have the best performance and the use of two different molecular targets for confirmatory purposes has been recommended, these methods selected to perform the transfer process and, in consequence, subjected to an analytical verification protocol based on international guidelines...
July 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28727227/long-term-outcomes-of-simultaneous-heart-and-kidney-transplantation-in-pediatric-recipients
#9
Patricia L Weng, Juan Carlos Alejos, Nancy Halnon, Qiuheng Zhang, Elaine F Reed, Eileen Tsai Chambers
Pediatric sHKTx has become an effective therapy for patients with combined cardiac and renal failure. Often, these patients develop human leukocyte antigen antibodies from their previous allografts and are therefore more difficult to re-transplant. We describe the largest case series of a predominantly sensitized pediatric sHKTx with emphasis on medical management and patient outcomes. Demographics, clinical characteristics, antibody, and biopsy data were retrospectively collected from University of California, Los Angeles database and correlated with short- and long-term patient and allograft outcomes of all sHKTx performed between 2002 and 2015...
July 20, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28725258/a-meta-analysis-of-resuscitative-endovascular-balloon-occlusion-of-the-aorta-reboa-or-open-aortic-cross-clamping-by-resuscitative-thoracotomy-in-non-compressible-torso-hemorrhage-patients
#10
REVIEW
Ramiro Manzano Nunez, Maria Paula Naranjo, Esteban Foianini, Paula Ferrada, Erika Rincon, Herney Andrés García-Perdomo, Paola Burbano, Juan Pablo Herrera, Alberto F García, Carlos A Ordoñez
BACKGROUND: The objective of this systematic review and meta-analysis was to determine the effect of REBOA, compared to resuscitative thoracotomy, on mortality and among non-compressible torso hemorrhage trauma patients. METHODS: Relevant articles were identified by a literature search in MEDLINE and EMBASE. We included studies involving trauma patients suffering non-compressible torso hemorrhage. Studies were eligible if they evaluated REBOA and compared it to resuscitative thoracotomy...
2017: World Journal of Emergency Surgery: WJES
https://www.readbyqxmd.com/read/28724057/impaired-flow-mediated-dilation-response-and-carotid-intima-media-thickness-in-patients-with-type-1-diabetes-mellitus-with-a-mean-disease-duration-of-4-1-years
#11
Lúcia Helena Bonalume Tacito, Antonio Carlos Pires, Juan Carlos Yugar-Toledo
Objective: This study aimed at assessing the endothelial function in patients with Type 1 diabetes (T1DM) using flow-mediated dilation (FMD) response and carotid artery intima-media thickness (CIMT). Materials and methods: This study enrolled 32 T1DM patients (mean disease duration 4.1 years) and 28 age-matched controls (CTL Group). Endothelial function and CIMT were assessed with high-resolution ultrasound using standardized offline measurements. Results: FMD was significantly lower in patients in the T1DM Group (8...
July 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28723276/can-an-app-help-identify-psychomotor-function-impairments-during-drinking-occasions-in-the-real-world-a-mixed-method-pilot-study
#12
Brian Suffoletto, Akash Goyal, Juan Carlos Puyana, Tammy Chung
BACKGROUND: Being able to measure the acute effects of alcohol consumption on psychomotor functions in natural settings could be useful in injury prevention interventions. This study examined the feasibility and acceptability of collecting app-based measures of information processing, working memory and gait stability during times of typical alcohol consumption among young adults. METHODS: Ten young adults (aged 21-26) with hazardous drinking completed a baseline assessment and ecological momentary assessments (EMA) on 4 consecutive Fridays and Saturdays, every hour from 8pm to 12am...
July 19, 2017: Substance Abuse
https://www.readbyqxmd.com/read/28722344/a-large-scale-assessment-of-european-rabbit-damage-to-agriculture-in-spain
#13
Miguel Delibes-Mateos, Miguel Ángel Farfán, Carlos Rouco, Jesús Olivero, Ana Luz Márquez, John E Fa, Juan Mario Vargas, Rafael Villafuerte
BACKGROUND: Numerous small and medium-sized mammal pests cause widespread and economically significant damage to crops all over the globe. However, most research on pest species has focused on accounts of the level of damage. There are fewer studies concentrating on the description of crop damage caused by pests at large geographical scales, or on analysing the ecological and anthropogenic factors correlated with these observed patterns. We investigated the relationship between agricultural damage by the European rabbit (Oryctolagus cuniculus) and environmental and anthropogenic variables throughout Spain...
July 19, 2017: Pest Management Science
https://www.readbyqxmd.com/read/28721849/effective-protection-of-mice-against-shigella-flexneri-with-a-new-self-adjuvant-multicomponent-vaccine
#14
Yadira Pastor, Ana Camacho, Ana Gloria Gil, Rocío Ramos, Adela López de Ceráin, Iván Peñuelas, Juan M Irache, Carlos Gamazo
PURPOSE: The aim of this study was to develop an immunogenic protective product against Shigella flexneri by employing a simple and safe heat treatment-based strategy. METHODOLOGY: The physicochemical characteristics of naturally produced (OMV) and heat-induced (HT) outer-membrane vesicles from S. flexneri were examined, including a comparison of the protein content of the products. Toxicological and biodistribution studies, and a preliminary experiment to examine the protective effectiveness of HT in a murine model of S...
July 18, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28721334/draft-genome-sequence-of-bradyrhizobium-paxllaeri-lmtr-21-t-isolated-from-lima-bean-phaseolus-lunatus-in-peru
#15
Ernesto Ormeño-Orrillo, Luis Rey, David Durán, Carlos A Canchaya, Marco A Rogel, Doris Zúñiga-Dávila, Juan Imperial, Tomás Ruiz-Argüeso, Esperanza Martínez-Romero
Bradyrhizobium paxllaeri is a prevalent species in root nodules of the Lima bean (Phaseolus lunatus) in Peru. LMTR 21(T) is the type strain of the species and was isolated from a root nodule collected in an agricultural field in the Peruvian central coast. Its 8.29 Mbp genome encoded 7635 CDS, 71 tRNAs and 3 rRNAs genes. All genes required to stablish a nitrogen-fixing symbiosis with its host were present. The draft genome sequence and annotation have been deposited at GenBank under the accession number MAXB00000000...
September 2017: Genomics Data
https://www.readbyqxmd.com/read/28719850/tinzaparin-in-cancer-associated-thrombosis-beyond-6months-ticat-study
#16
Luis Jara-Palomares, Aurora Solier-Lopez, Teresa Elias-Hernandez, Maribel Asensio-Cruz, Isabel Blasco-Esquivias, Lucia Marin-Barrera, Maria Rodriguez de la Borbolla-Artacho, Juan Manuel Praena-Fernandez, Emilio Montero-Romero, Silvia Navarro-Herrero, Maria Pilar Serrano-Gotarredona, José María Sánchez-Díaz, Carlos Palacios, Remedios Otero
INTRODUCTION: The safety and efficacy of low-molecular-weight heparin (LMWH) treatment in patients with cancer-associated thrombosis (CAT) beyond 6months are unknown. Our aim was to determine the safety of long-term tinzaparin use in patients with CAT. METHODS: We performed a prospective, open, single arm, multicentre study in patients with CAT receiving treatment with tinzaparin. We evaluated the rate of clinically relevant bleeding events (major and non-major clinically relevant bleeding) and venous thromboembolism (VTE) recurrence...
July 12, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28717233/effect-of-ldl-cholesterol-statins-and-presence-of-mutations-on-the-prevalence-of-type-2-diabetes-in-heterozygous-familial-hypercholesterolemia
#17
Elisenda Climent, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Nuria Plana, Rosa Sánchez, Emilio Ros, Juan F Ascaso, Jose Puzo, Fátima Almagro, Carlos Lahoz, Fernando Civeira, Juan Pedro-Botet
Patients with heterozygous familial hypercholesterolemia (HeFH) have been reported to be less vulnerable to type 2 diabetes mellitus (T2DM), although the mechanism is unknown. The aims of the present study were to assess the effects of low density lipoprotein (LDL) cholesterol concentration and the presence of FH-causing mutations on T2DM prevalence in HeFH. Data were collected from the Dyslipidemia Registry of the Spanish Arteriosclerosis Society. Inclusion criteria were definite or probable HeFH in patients aged ≥18 years...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715788/smoke-free-homes-and-attitudes-towards-banning-smoking-in-vehicles-carrying-children-in-spain-2016
#18
Ana Díez-Izquierdo, Cristina Lidón-Moyano, Juan Carlos Martín-Sánchez, Nuria Matilla-Santander, Pia Cassanello-Peñarroya, Albert Balaguer, Jose M Martínez-Sánchez
OBJECTIVE: To describe the voluntary adoption of smoke-free homes and social attitudes in Spain towards banning smoking in vehicles in which children are present. METHODS: Cross-sectional study of a representative sample of the adult Spanish population age range, 18-75 years (n=1036). The field work was conducted via a computer-assisted telephone survey in March and April 2016. Survey respondents answered questions about smoking rules at home and attitudes towards a smoking ban in cars with or without children...
July 14, 2017: Environmental Research
https://www.readbyqxmd.com/read/28715362/resuscitative-endovascular-balloon-occlusion-of-the-aorta-for-placenta-percreta-previa
#19
Michael W Parra, Carlos Alberto Ordonez, Juan P Herrera-Escobar, Adolfo Gonzalez-Garcia, Jon Guben
No abstract text is available yet for this article.
July 15, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28714976/rare-coding-variants-in-plcg2-abi3-and-trem2-implicate-microglial-mediated-innate-immunity-in-alzheimer-s-disease
#20
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, W T Longstreth Jr, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p...
July 17, 2017: Nature Genetics
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