Results 231 to 240 of about 125,953 (296)

Resolving spatial subclonal genomic heterogeneity of loss of heterozygosity and extrachromosomal DNA in gliomas. [PDF]

Nat Commun
Webb MG, Chow F, McCullough CG, Zhang B, Lee JJY, Bassiouni R, Garrett NE, Hurth K, Carpten JD, Zada G, Craig DW.   +10 more
europepmc   +1 more source

Circulating growth differentiation factor‐15 levels are associated with early echocardiographic signs of diastolic function impairment in the STANISLAS cohort: A 20‐year follow‐up study

European Journal of Heart Failure, EarlyView.
Summary of the study design and key findings. The (+) and (−) signs mean that the variable has a positive or a negative association with growth differentiation factor‐15 (GDF‐15) levels in the fully adjusted model (age, gender, current smoker, body mass index, total cholesterol, systolic blood pressure and N‐terminal pro‐B‐type natriuretic peptide ...
Luca Monzo, Constance Xhaard, João Pedro Ferreira, Guillaume Baudry, Zohra Lamiral, Kevin Duarte, Erwan Bozec, Jean‐Marc Boivin, Olivier Huttin, Patrick Rossignol, Faiez Zannad, Nicolas Girerd   +11 more
wiley   +1 more source

Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene. [PDF]

J Eat Disord
Lutter M.
europepmc   +1 more source

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

, 2012
Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde   +11 more
openalex   +1 more source

Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis

European Journal of Heart Failure, EarlyView.
Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis. Clonal haematopoiesis and heart failure: a meta‐analysis. CH, clonal haematopoiesis; CI, confidence interval; HF, heart failure. [Correction added on 15 March 2025, after first online publication: The graphical image was corrected in ...
Paschalis Karakasis, Eleftheria Lefkou, Konstantinos Pamporis, Dimitrios Farmakis, Dimitrios Patoulias, Antonios P. Antoniadis, Stephane Heymans, Gerasimos Filippatos, Nikolaos Fragakis   +8 more
wiley   +1 more source

Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. [PDF]

BMC Psychiatry
Wang Y, Xu Z, Zhang Y, Li H.
europepmc   +1 more source

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

, 2012
Degui Zhi, Rui Chen
openalex   +2 more sources

Genotype‐guided cardiac device intervention in LMNA‐related cardiac conduction disorder: The need for timely genetic testing

European Journal of Heart Failure, EarlyView.
Sudden cardiac death is a catastrophic event, making its prevention important. However, patient selection for primary prevention remains controversial. We report two cases of cardiac conduction disorder initially treated with permanent pacemaker implantation.
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro   +19 more
wiley   +1 more source

Clinical and analytical validation of a combined RNA and DNA exome assay across a large tumor cohort. [PDF]

Commun Med (Lond)
Yudina A, Tazearslan C, Baisangurov A, Nuzhdina E, Lauziere K, Segodin V, Podsvirova S, Starikov S, Chasse M, Shaposhnikov K, Kaneunyenye L, Klimchuk O, Kuzkina N, English N, Khegai G, Sookiasian D, Shafranskaya D, Fernandez D, Lozinsky Y, Sobolev A, Abdou M, Turova P, Chernyshov K, Efremov A, Andrewes S, Feinberg A, McKenna B, Brown JH, Love A, Curran J, Lennerz J, Bagaev A.   +31 more
europepmc   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source