Results 231 to 240 of about 67,612 (348)

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Development of a novel meta-polygenic risk score for risk assessment and clinical manifestation prediction in systemic lupus erythematosus. [PDF]

RMD Open
Qiao Y, Cao M, Li M, Gai Y, Ding Y, Li Y, Qian J, Zhao J, Li C, Yang X, Li M.   +10 more
europepmc   +1 more source

The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia [PDF]

, 2019
Alexandros Rammos, Lara A. Neira Gonzalez, Daniel R. Weinberger, Kevin J. Mitchell, Kristin K. Nicodemus   +4 more
openalex   +1 more source

The development of type 2 diabetes amongst sibling pairs in the South‐South region of Nigeria: The effect of genetics, environment and lifestyle

Diabetic Medicine, EarlyView.
Abstract Introduction Type 2 diabetes is a complex condition with a multifactorial pathogenesis. The pathogenesis is considered to be polygenic due to complex interactions between genetic/epigenetic and environmental factors. The aim of this study is to determine the genetic, environmental and lifestyle factors associated with the development of type 2
Sunny Chinenye, Ibi Erekosima, Adrian H. Heald, Gesiye Bozimo, Simon G. Anderson, Samuel Seidu, Kariba Akhidue, Adaeze Ugwu, Chioma Unachukwu, Ibitrokoemi Korubo, Kingsley Chukwuemeka Patrick‐Iwuanyanwu, Victoria Gomba, Uwoma Batubo, Victoria Akanatei, Victor Ken‐Uba, Iyeopu Siminialayi, Sokiprim Akoko, Justin Ideozu, Hamilton Opurum   +18 more
wiley   +1 more source

Associations Between Polygenic Risk Score for Blood Pressure and Risk of Hypertension in Northeast Asian Individuals. [PDF]

J Am Heart Assoc
Kim NY, Park J, Nam K, Lee S, Lee H.
europepmc   +1 more source

The relationship between polygenic risk scores and cognition in Schizophrenia

Walters J.T.R., Loohuis L.M.O, Muhamad Isna N W, Peter Holmans, Richards A.L, Thomas Espeseth, Bettina Konte, Owen M.J., Ophoff R.A, Rutten B.P.F., Pardiñas A.F, Laura Ferraro, Bloklande G.A.M., F Degenhardt, Gary Donohoe, Kjetil Sundet, Ingrid Melle, Håkan Nyman, Donna Cosgrove, Aura Frizzati, Diego Quattrone, Ina Giegling, Legge S.E, Andreassen O.A, Jönsson E.G, Van Ose J, O’Donovan M.C., Sullivan P.F, Fabian Streit, Dan Rujescu, Tansey K.E, Savage J.E, Blokland G.A.M, Michael Wagner, van Os J, Aiden Corvin, Petryshen T.L., Valentina Escott‐Price, Craig Morgan, Charlotte Gayer‐Anderson, H M, Srdjan Djurovic, Leonhard Lennertz, Van Haren N.E, Marcella Rietschel, Van Osk J., Ingrid Agartz, Lynham A.J, Hubert J.J, Jana Strohmaier, Murray R.M   +50 more
openalex   +1 more source

Polygenic Risk Score Predicts Prostate Cancer Risk Independent of Type 2 Diabetes

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Type 2 diabetes mellitus (T2DM) has been inversely associated with prostate cancer (PrCa) risk. However, it remains unclear whether a polygenic risk score (PRS) for PrCa can effectively stratify risk among men with T2DM. The primary objective of this study was to assess whether a PrCa PRS predicts PrCa risk independently of T2DM status ...
Guk Jin Lee, Sang‐Hyuk Jung, Jonghyun Lee, Ki Won Moon, Penn Medicine Biobank, Daniel J. Rader, Marylyn D. Ritchie, JoEllen Weaver, Nawar Naseer, Giorgio Sirugo, Afiya Poindexter, Yi‐An Ko, Kyle P. Nerz, Meghan Livingstone, Fred Vadivieso, Stephanie DerOhannessian, Teo Tran, Julia Stephanowski, Salma Santos, Ned Haubein, Joseph Dunn, Colleen Morse Kripke, Marjorie Risman, Renae Judy, Colin Wollack, Anurag Verma, Shefali S. Verma, Scott Damrauer, Yuki Bradford, Scott Dudek, Theodore Drivas, Jae‐Seung Yun, Dokyoon Kim   +32 more
wiley   +1 more source

Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort. [PDF]

Sci Rep
Neylan CJ, Ueland T, Abramowitz SA, DePaolo JS, Tsao NL, Roberson JL, Hawkins AT, Carey DJ, Smelser DT, Levin MG, Hoffman RL, Damrauer SM, Maguire LH.   +12 more
europepmc   +1 more source

A Modular Pipeline for the Construction and Validation of Polygenic Risk Scores in Oncology

Eleonora Pascucci, Riccardo Galarducci, Stefania Boccia, Roberta Pastorino   +3 more
openalex   +1 more source

Toward Personalized Medicine in Type 1 Diabetes: Understanding How Patient Heterogeneity Influences Therapeutic Efficacy

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Pharmacologic interventions for type 1 diabetes (T1D) have advanced significantly in recent years with the advent of the first FDA approved therapy teplizumab for delaying symptomatic disease onset in 2022. Despite this progress, major hurdles remain in moving toward personalized medicine approaches for T1D.
Jasmine Pipella, Peter J. Thompson
wiley   +1 more source