Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Genetic Testing in Movement Disorders: Riding the Wave Without Being Swept Under
Movement Disorders, EarlyView.
Alessio Di Fonzo, Francesca Magrinelli
wiley +1 more source
Breathing in Plants and Chaos—Cosmic Tree Events in Cameroon and Beyond
Anthropology of Consciousness, EarlyView.ABSTRACT Contemporary practices of tapping into the wisdom of ancestral trees are described through three entangled recent events lived within the context of Bantu practices in Cameroon. In the three instances, the steered or chance encounters with high potency trees were serendipitous telling moments which brought something new to the horizon.
Julie Laplante +3 more
wiley +1 more source
Cholinergic inputs to motoneurons in the spinal cord augment focal muscle spasticity in rodents
British Journal of Pharmacology, EarlyView.Background and Purpose Cholinergic premotor inputs to motoneurons support high levels of motor output when required. However, the possible role of these inputs in pathologically elevated muscle tone has not been characterised. To address this, we examined the modulatory effect of spinal acetylcholine (ACh) on experimental spastic paralysis ...
Patrik Meglić +10 more
wiley +1 more source
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives To explore how Dutch adults with rheumatoid arthritis (RA) perceive their oral health around the diagnostic process and the early disease course. The primary objective was to describe these perceptions in depth, and a secondary objective was to identify areas for future patient‐centred research.
Nadine Isabel Bhagwandas +2 more
wiley +1 more source
Gut Microbiome Dysbiosis as a Potential Risk Factor for Idiopathic Toe-Walking in Children: A Review. [PDF]
Int J Mol Sci, 2023 Kononova S +5 more
europepmc +1 more source
Clinical Genetics, EarlyView.Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund +5 more
wiley +1 more source
Clinical Genetics, EarlyView.We report 13 additional individuals from nine families, evaluating in detail the genotypic and phenotypic spectrum in comparison with the previously reported individuals. Our work substantially broadens the phenotypic spectrum, ranging from the severe and lethal to a milder developmental phenotype.
Radhakrishnan Periyasamy +15 more
wiley +1 more source
Geophysical Monograph Series, Page 263-304., 2021 Exploring the links between Large Igneous Provinces and dramatic environmental impact
An emerging consensus suggests that Large Igneous Provinces (LIPs) and Silicic LIPs (SLIPs) are a significant driver of dramatic global environmental and biological changes, including mass extinctions.
Jessica H. Whiteside +3 more
wiley +1 more source
Ankle Kinematics Characterization in Children with Idiopathic Toe Walking: Does the Foot Model Change the Clinical Evaluation? [PDF]
Healthcare (Basel), 2023 Brasiliano P +5 more
europepmc +1 more source