Results 91 to 100 of about 731,889 (291)

IDGenerator: unique identifier generator for epidemiologic or clinical studies

BMC Medical Research Methodology, 2016
Background Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data.
Matthias Olden, Rolf Holle, Iris M. Heid, Klaus Stark   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. [PDF]

, 2014
To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and ...
Abecasis, Goncalo R, Adair, Linda S, Almgren, Peter, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, Atalay, Mustafa, Aung, Tin, Baldassarre, Damiano, Balkau, Beverley, Bao, Yuqian, Barnett, Anthony H, Barroso, Ines, Basit, Abdul, Been, Latonya F, Beilby, John, Bell, Graeme I, Below, Jennifer E, Benediktsson, Rafn, Bergman, Richard N, Boehm, Bernhard O, Boerwinkle, Eric, Bonnycastle, Lori L, Burtt, Noël, Cai, Qiuyin, Campbell, Harry, Carey, Jason, Cauchi, Stephane, Caulfield, Mark, Chan, Juliana CN, Chang, Li-Ching, Chang, Tien-Jyun, Chang, Yi-Cheng, Charpentier, Guillaume, Chen, Chien-Hsiun, Chen, Han, Chen, Yuan-Tsong, Chia, Kee-Seng, Chidambaram, Manickam, Chines, Peter S, Cho, Nam H, Cho, Young Min, Chuang, Lee-Ming, Chuang, Lee-Ming, Collins, Francis S, Cornelis, Marylin C, Couper, David J, Crenshaw, Andrew T, Danesh, John, Das, Debashish, de Faire, Ulf, Dedoussis, George, Deloukas, Panos, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Dimas, Antigone S, Dina, Christian, Doney, Alex S, Donnelly, Peter J, Dorkhan, Mozhgan, Dupuis, Josée, Edkins, Sarah, Elliott, Paul, Emilsson, Valur, Erbel, Raimund, Eriksson, Johan G, Escobedo, Jorge, Esko, Tonu, Eury, Elodie, Ferreira, Teresa, Florez, Jose C, Fontanillas, Pierre, Forouhi, Nita G, Forsen, Tom, Fox, Caroline, Fraser, Ross M, Frayling, Timothy M, Froguel, Philippe, Frossard, Philippe, Gao, Yutang, Gaulton, Kyle J, Gertow, Karl, Gieger, Christian, Gigante, Bruna, Go, Min Jin, Grallert, Harald, Grant, George B, Groves, Chrisropher J, Grrop, Leif C, Horikoshi, Momoko, Johnson, Andrew D, Mahajan, Anubha, Mexican American Type 2 Diabetes (MAT2D) Consortium, Ng, Maggie CY, Prokopenko, Inga, Saleheen, Danish, South Asian Type 2 Diabetes (SAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, van Dam, Rob M, van Duijn, Cornelia, Wang, Xu, Zeggini, Eleftheria, Zhang, Weihua   +99 more
core  

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]

, 2019
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.
23andMe Research Team, Bjornsdottir, Gyda, Boardman, Jason D, Boehnke, Michael, Boomsma, Dorret I, Brazel, David M, Chen, Chu, Chen, Fang, Choquet, Hélène, Cucca, Francesco, Datta, Gargi, Davies, Gareth E, Davila-Velderrain, Jose, Docherty, Anna R, Eaton, Charles B, Ehringer, Marissa A, Esko, Tõnu, Faul, Jessica D, Fiorillo, Edoardo, Foerster, Johanna R, Fritsche, Lars G, Gabrielsen, Maiken Elvestad, Gillespie, Nathan A, Gordon, Scott D, Gudbjartsson, Daniel F, Haessler, Jeffrey, Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C, Hewitt, John K, Hickie, Ian B, Hokanson, John E, Hopfer, Christian J, Hottenga, Jouke-Jan, Huang, Hongyan, HUNT All-In Psychiatry, Hunter, David J, Iacono, William G, Jang, Seon-Kyeong, Jansen, Philip R, Jiang, Yu, Johnson, Eric O, Kamatani, Yoichiro, Kardia, Sharon LR, Keller, Matthew C, Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S, Laakso, Markku, Li, Yue, Lind, Penelope A, Ling, Yueh, Liu, Mengzhen, Loukola, Anu, Lutz, Sharon M, Madden, Pamela AF, Martin, Nicholas G, Matoba, Nana, McGue, Matt, McGuire, Daniel, McMahon, George, McQueen, Matthew B, Medland, Sarah E, Metspalu, Andres, Mohlke, Karen L, Mulas, Antonella, Mägi, Reedik, Nielsen, Jonas B, Okada, Yukinori, Orrù, Valeria, Palviainen, Teemu, Pandit, Anita, Peters, Ulrike, Polderman, Tinca JC, Posthuma, Danielle, Reginsson, Gunnar W, Reiner, Alexander P, Rice, John P, Rimm, Eric, Rose, Richard J, Runarsdottir, Valgerdur, Skogholt, Anne Heidi, Smith, Jennifer A, Stallings, Michael C, Stančáková, Alena, Stefansson, Hreinn, Taylor, Amy E, Thai, Khanh K, Tian, Chao, Tindle, Hilary A, Turman, Constance, Wedow, Robbee, Willemsen, Gonneke, Young, Hannah, Young, Kendra A, Zajac, Gregory JM, Zhan, Xiaowei, Zhao, Wei, Zhou, Wei   +99 more
core  

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Medical records confidentiality and public health research: two values at stake? An italian survey focus on individual preferences

Journal of Public Health Research, 2015
In a time when Europe is preparing to introduce new regulations on privacy protection, we conducted a survey among 1700 twins enrolled in the Italian Twin Register about the access and use of their medical records for public health research without ...
Virgilia Toccaceli, Corrado Fagnani, Maria Antonietta Stazi   +2 more
doaj   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Epidemiology/Genetics [PDF]

Diabetes, 2013
openaire   +5 more sources

Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue

BMC Genomics, 2018
Background Intermittent fasting and time-restricted diets are associated with lower risk biomarkers for cardio-metabolic disease. The shared mechanisms underpinning the similar physiological response to these events is not established, but circadian ...
Alexessander Couto Alves, Craig A. Glastonbury, Julia S. El-Sayed Moustafa, Kerrin S. Small   +3 more
doaj   +1 more source