Results 201 to 210 of about 24,446 (224)

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

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Advances in Laboratory Medicine, 2020
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia   +5 more
doaj   +1 more source

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor [PDF]

, 2012
Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau   +22 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

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

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, EarlyView.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

High prevalence of genetic variants previously associated with LQT syndrome in new exome data [PDF]

, 2012
Lena Refsgaard, Anders G. Holst, Golnaz Sadjadieh, Stig Haunsø, Jonas B. Nielsen, Morten S. Olesen   +5 more
openalex   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

New Genetic Associations Detected in an Exome-Wide Association Study for Toxicity Related to Thiopurine Treatments in Inflammatory Bowel Disease

, 2011
María Chaparro, William Zabala‐Fernández, Manuel Barreiro‐de Acosta, Julián Panés, María Esteve, Montserrat Andreu, Esther García-Planella, Eugeni Domènech, Ana Echarri, Daniel Carpio, Raquel Cruz, Francisco Barros, Javier P. Gisbert   +12 more
openalex   +1 more source