Results 181 to 190 of about 546,840 (293)

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Direct and Indirect Effects of a Glyphosate-Based Herbicide on Spodoptera frugiperda Multiple Nucleopolyhedrovirus (Baculoviridae) on Diet, Maize Plants and Soil. [PDF]

Insects
Gómez-Díaz JS, Cubas AY, Arias-Robledo MJ, Williams T.   +3 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Quantification of Ligand-Membrane Interactions Using DNP-NMR Relaxometry. [PDF]

Anal Chem
Qi C, Pradhan N, Hilty C.
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Diet-lifestyle oxidative balance in relation to cardiometabolic multimorbidity: findings from the national health and nutrition examination survey. [PDF]

Exp Biol Med (Maywood)
Shi W, Zhao Y, Park J, Chen W.
europepmc   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Association between serum 25(OH)D, oxidative balance score, and mortality among individuals with metabolic syndrome: a cohort study. [PDF]

Diabetol Metab Syndr
Zhang X, Feng X, Liu J, Zhang X, Zhou Q, Xu Y, Wang W, Luo W.   +7 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A Homogeneously Catalyzed Paired Electrolytic Cell for Hydrogen Peroxide Production

Angewandte Chemie, EarlyView.
Cu(tmpa) and Sn‐TMPyP are compatible and efficient catalysts for 2e−‐ORR and 2e−‐WOR, respectively, which have been employed to assemble an efficient paired electrochemical cell for H2O2 production. The presence of a carbonate buffer is essential to achieve a high activity in the anode compartment, while control over mass transport is essential for a ...
Caterina Trotta, Jesse Orta, Hendrik C. de Heer, Pim G. J. van Duren, Maxime A. Siegler, Gabriel Menendez Rodriguez, Alceo Macchioni, D. G. H. Hetterscheid   +7 more
wiley   +2 more sources