Results 131 to 140 of about 36,869 (295)

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

Egyptian Journal of Medical Human Genetics
Background A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes.
Sunny Kumar Jignesh Kumar Patel, Shagufa Sheikh, Birendranath Banerjee   +2 more
doaj   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

Oogenesis and germinal bed morphology of the brown anole (A. sagrei)

Developmental Dynamics, EarlyView.
Abstract Background The brown anole is a model species of the genus Anolis, a squamate (encompassing lizards and snakes) group widely studied in evolutionary, behavioral, and developmental biology. Full genome annotation, the establishment of gene editing techniques, and comprehensive description of reproductive tract morphology and embryogenesis in ...
Bonnie K. Kircher, Antonia Weberling, Erin J. Vance, Natalia A. Shylo, Katherine Starr, Zoe B. Griffin, Hannah Wilson, Melainia McClain, Florian Hollfelder, Suzannah A. Williams, Thomas J. Sanger, Richard R. Behringer, Paul A. Trainor   +12 more
wiley   +1 more source

Cytogenetic Evaluation of Couples With Spontaneous Abortion, Still Birth and Recurrent Miscarriage in Qazvin: Report and Review [PDF]

, 2016
Background: Chromosomal abnormality plays an important role in different types of miscarriages. Objectives: The present study was designed to investigation chromosomal anomalies in three groups of couples with recurrent abortion (RA), spontaneous ...
Ansari, Javad, Jalilvand, Mavijeh, Moghbelinejad, Sahar, Najafipour, Reza   +3 more
core  

Multivariate Trajectories of Eating Disorder Symptoms and Weight Status in 10‐ to 17‐Year‐Old Children and Adolescents

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Eating disorders (EDs) often emerge in adolescence, but developmental trajectories across different core features remain largely unclear. Method The prospective, community‐based study included N = 898 participants aged 9.5–17.5 years (47.6% female, age 11.8 ± 1.4 years) with annual follow‐up over 2–6 (3.4 ± 1.2) years.
Anja Hilbert, Danielle Schewe, Andreas Hiemisch, Antje Körner, Wieland Kiess, Ricarda Schmidt   +5 more
wiley   +1 more source

Reviewing Research on Transgender and Nonbinary People in Social Psychology: Insights and Future Research Directions

European Journal of Social Psychology, EarlyView.
ABSTRACT Transgender and nonbinary (TGNB) identities and issues faced by TGNB people are receiving growing attention in social psychology. At the same time, this is a relatively new area, and most research on LGBTQ+ issues primarily focuses on sexual minorities, whereas most research on gender focuses on women and men.
Thekla Morgenroth, Kira Kay Means
wiley   +1 more source

Cytogenetic effects of irradiation on somatic and germ cells [PDF]

, 1999
This paper summarizes the results obtained in two of the research projects carried out in our laboratory within the radiation protection programs of the Consejo de Seguridad Nuclear and the European Union.
Barrios, L., Caballín, M. R., Egozcue, Josep,, Miró, Rosa, Ponsa Arjona, Immaculada, Tusell Padrós, Laura, Álvarez Arpal, Ricardo   +6 more
core   +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

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

International Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto, Sophie Gibert, Caroline Delmas, David Tougeron, Amaury Paumier, Alexandre Taillez, Samuel Le Sourd, Delphine Argo Leignel, Philippe Ronchin, Ariane Darut Jouve, Véronique Vendrely, Olivier Riou, Jérôme Martin‐Babau, Thomas Leroy, Laurent Quéro, Naïma Hanoun, Pierre Cordelier, Veronica Pezzella, Jean Pierre Delord, Rosine Guimbaud, Elizabeth Moyal, Catherine Seva   +21 more
wiley   +1 more source