Results 11 to 20 of about 405 (120)
Psychometric approaches to defining cognitive phenotypes in the Old Order Amish. [PDF]
Int J Geriatr Psychiatry, 2023 Abstract Objective Memory and cognitive problems are central to the diagnosis of Alzheimer's disease (AD). Psychometric approaches to defining phenotypes can aid in identify genetic variants associated with AD. However, these approaches have mostly been limited to affected individuals. Defining phenotypes of both affected and unaffected individuals may
Zaman A +16 more
europepmc +2 more sources
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health. [PDF]
Clin GenetIn 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Mayer de Lima LB +8 more
europepmc +2 more sources
Social factors in mixed language emergence: Solving the puzzle of Amish Shwitzer [PDF]
, 2023 Mixed languages are stable languages stemming from at least two parental languages from which they inherit larger parts of their linguistic system, e.g. gram-matical structure from one parental language and lexicon from another parental language.
Hasse, Anja; https://orcid.org/ +1 more
core +1 more source
From preschool wheezing to asthma: Environmental determinants
Pediatric Allergy and Immunology, Volume 34, Issue 11, November 2023., 2023 Abstract Wheezing is common among preschool children, representing a group of highly heterogeneous conditions with varying natural history. Several phenotypes of wheezing have been proposed to facilitate the identification of young children who are at risk of subsequent development of asthma.
Yuhan Xing +2 more
wiley +1 more source
A Theory of Planetary Social Pedagogy
Educational Theory, Volume 73, Issue 4, Page 615-637, August 2023., 2023 Abstract The escalating planetary crises of human‐induced climate change, the depletion of natural resources, and declining biodiversity call for urgent actions to be taken at all levels of society and by the global community. The current political strategy for a sustainable future that emphasizes economic and technological progress is insufficient to ...
Arto O. Salonen +3 more
wiley +1 more source
Bipolar Disorders, Volume 25, Issue 4, Page 278-288, June 2023., 2023 Abstract Objectives Several studies have suggested that anxiety disorders in childhood and adolescence often precede the onset of bipolar disorder. We therefore systematically reviewed the relationship between child and adolescent anxiety and later bipolar disorder.
Vanessa Buckley +2 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 46, Issue 3, Page 482-519, May 2023., 2023 Abstract Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3‐hydroxyglutaric acid, glutaconic acid and ...
Nikolas Boy +33 more
wiley +1 more source
Rhinitis associated with asthma is distinct from rhinitis alone: The ARIA‐MeDALL hypothesis
Allergy, Volume 78, Issue 5, Page 1169-1203, May 2023., 2023 Abstract Asthma, rhinitis, and atopic dermatitis (AD) are interrelated clinical phenotypes that partly overlap in the human interactome. The concept of “one‐airway‐one‐disease,” coined over 20 years ago, is a simplistic approach of the links between upper‐ and lower‐airway allergic diseases. With new data, it is time to reassess the concept.
J. Bousquet +249 more
wiley +1 more source
Genetic and molecular architecture of familial hypercholesterolemia
Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023 Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
wiley +1 more source
Genetics Research , Volume 2023, Issue 1, 2023., 2023 Background. Health and economies are both affected by the coronavirus disease‐19 (COVID‐19) global pandemic. Angiotensin‐converting enzyme 2 (ACE2) is a polymorphic enzyme that is a part of the renin‐angiotensin system, and it plays a crucial role in viral entry.
Taravat Talebi +6 more
wiley +1 more source