Results 131 to 140 of about 88,012 (270)
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. [PDF]
Clin Dysmorphol, 2021 Mishra S, Girisha KM, Shukla A.
europepmc +1 more source
The bargaining model of depression [PDF]
, 2002 Minor depression—low mood often accompanied by a loss of motivation—is almost certainly an adaptation to circumstances that, in ancestral environments, imposed a fitness cost. It is, in other words, the psychic equivalent of physical pain.
Hagen, Edward H
core
The Journal of Physiology, EarlyView.Abstract figure legend Paracetamol (acetaminophen) is commonly taken during pregnancy for pain and fever. To gain a more comprehensive understanding of paracetamol's effects during pregnancy, several elements need to be examined including the transfer of paracetamol across the placenta and into the developing brain, the short‐ and long‐term effects of ...
Yifan Huang, Liam Koehn
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Schizophrenia Genetics Modulates Clinical Depressive Features
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 180-193, April 2026.ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti +13 more
wiley +1 more source
Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2. [PDF]
Front Genet, 2021 Tao Y +5 more
europepmc +1 more source
Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone +8 more
wiley +1 more source
The Aicardi syndrome. A case report and review of the literature
The Turkish Journal of Pediatrics, 1993 A case of Aicardi's syndrome is described. The main features described are infantile spasms, pathognomonic chorioretinal lacunar defects, agenesis of the corpus callosum, psychomotor retardation, female sex, characteristic EEG changes and ...
S Altinbaşak +3 more
doaj
The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype
Annals of Neurology, Volume 99, Issue 4, Page 883-896, April 2026.Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi +16 more
wiley +1 more source