Results 261 to 270 of about 220,549 (336)

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify. [PDF]

Diabetes
Sharp LN, Mirshahi UL, Colclough K, Hall TS, Haley JS, Cannon SJ, Laver TW, Weedon MN, Hattersley AT, Carey DJ, Patel KA.   +10 more
europepmc   +1 more source

Autonomy and Consent in Biobanks [PDF]

, 2010
Schwartz, Peter H.
core  

Mixed-model association for biobank-scale datasets

Nature Genetics, 2018
Po-Ru Loh, Gleb Kichaev, S. Gazal, A. Schoech, A. Price   +4 more
semanticscholar   +1 more source

The cervico‐vaginal DNA methylation WID‐qEC test: An epigenetic marker associated with ovarian cancer in the absence of endometrial and cervical cancer

International Journal of Cancer, EarlyView.
What's New? The DNA methylation‐based WID‐qEC test has been validated for the accurate detection of endometrial and cervical cancers using cervico‐vaginal samples. However, a small proportion of women test positive despite the absence of these cancers. This study explored the associated biological and clinical characteristics to inform potential follow‐
Elisa Redl, Chiara Herzog, Charlotte Vavourakis, James Barrett, Allison Jones, Iona Evans, Daniel Reisel, Ranjit Manchanda, Line Bjørge, Michal Zikan, David Cibula, Twana Alkasalias, Angelique Flöter Rådestad, Kristina Gemzell‐Danielsson, Louis Dubeau, Nicola MacDonald, Davor Jurkovic, Nora Pashayan, Martin Widschwendter   +18 more
wiley   +1 more source

Attitudes of blood and plasma donors towards biobanking for longitudinal health research. [PDF]

PLoS One
Joosten KF, van Dammen L, Merz EM, Novotný VMJ, Thijssen-Timmer DC, van den Hurk K.   +5 more
europepmc   +1 more source

Detection of recurrent endometrial cancer via DNA methylation analysis of cervicovaginal self‐samples and urine

International Journal of Cancer, EarlyView.
What's New? Post‐treatment surveillance for endometrial cancer aims to detect recurrence early, potentially improving outcome. Emerging evidence suggests that DNA methylation analysis of self‐collected cervicovaginal and urine samples is a promising approach.
Annick J. Nouwens, Mirte Schaafsma, Nienke E. van Trommel, Jenneke C. Kasius, Renske D. M. Steenbergen, Maaike C. G. Bleeker   +5 more
wiley   +1 more source

Genetic liability to psoriasis predicts severe disease outcomes. [PDF]

Genome Med
Saklatvala JR, Lessard S, Teder-Laving M, Thomas LF, Ramessur R, Zierer J, Åsvold BO, Barton A, Baudry D, Bowes J, Brumpton B, Bruno S, Chandran V, Chatelain C, de Rinaldis E, Elder JT, Ellinghaus D, Foerster J, Franke A, Gladman DD, Gulliver W, Hüffmeier U, Huilaja L, Hveem K, Khader S, Kingo K, Klinger K, Kolbinger F, Kõks S, Liao W, Nair RP, Nititham J, Rahman P, Reis A, Sagoo MK, Stuart PE, Tasanen K, Traks T, Tsoi LC, Uebe S, Watts K, BSTOP study group, Barker JN, Mahil SK, Langan SM, FinnGen, Estonian Biobank research team, Brown SJ, Løset M, Paternoster L, Dand N, Smith CH, Simpson MA.   +52 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Biological aging and lifespan in men and women using a Mendelian randomization study. [PDF]

Hum Genomics
Schooling CM, Li S, Jiesisibieke ZL.
europepmc   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source