Results 271 to 280 of about 3,197,012 (359)

Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics. [PDF]

Acta Diabetol
Catamo E, Conti A, Franceschi R, Dovc K, Morosini C, Tinti D, Aldegheri L, Cappellani S, Tamaro G, Zanfardino A, Faleschini E, Rabbone I, Bonfanti R, Battelino T, Iafusco D, Tornese G, Robino A.   +16 more
europepmc   +1 more source

Association of Multiple Trait Polygenic Risk Score with Obesity and Cardiometabolic Diseases in Korean Population

Jinyeon Jo, Na‐Young Ha, Yunmi Ji, Ah Ra, Je Hyun Seo, Bumjo Oh, Sungkyoung Choi, Eun Kyung Choe, Woojoo Lee, Jang‐Won Son, Sungho Won   +10 more
openalex   +1 more source

Population‐based cohort validation and replication reveals limited generalizability of cluster‐based MASLD subtypes

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims MASLD, defined as a steatotic liver disease in the presence of one or more cardiometabolic risk factors and the absence of harmful alcohol intake, exhibits substantial heterogeneity complicating risk stratification. A prior clustering model proposed liver‐specific and cardiometabolic subtypes, yet its generalizability and prognostic ...
Junjie Wu, Weiwei Xu, Guyu Zeng, Junfeng Wang   +3 more
wiley   +1 more source

Gene X Environment Interactions: Polygenic Scores and the Impact of an Early Childhood Intervention in Colombia

Orazio Attanasio, Gabriella Conti, Pamela Jervis, Costas Meghir, Aysu Okbay   +4 more
openalex   +1 more source

Machine Learning-Based Prediction of Gout Using Polygenic Risk Scores and Clinical Variables: A Korean Cohort Study [PDF]

Duck-Joo Kwak, Hyunjung Kim, Heewon Park, Sun Shim Choi, Ki Won Moon   +4 more
openalex   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Polygenic Score Approach to Predicting Risk of Metabolic Syndrome. [PDF]

Genes (Basel)
Timasheva Y, Kochetova O, Balkhiyarova Z, Korytina G, Prokopenko I, Nouwen A.   +5 more
europepmc   +1 more source

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

, 2019
Tom G. Richardson, Sean Harrison, Gibran Hemani, George Davey Smith   +3 more
openalex   +1 more source

Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort [PDF]

, 2018
Bierut, Laura, et al,, Hartz, Sarah, Horton, Amy   +3 more
core   +1 more source

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan, M. Scott Perry, Ingrid E. Scheffer, James Wheless, Susana Boronat, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Gerard Gioia, Rebecca Shaffer, Madison M. Berl, Mary Wojnaroski, Sarah Christensen, Alexander King, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +28 more
wiley   +1 more source