Results 111 to 120 of about 230,797 (353)
Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
Possible causes of catatonia in autistic spectrum disorders [PDF]
, 2000 Robert Chaplin
openalex +1 more source
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Affective communication of infants with autistic spectrum disorder and internal representation of their mothers [PDF]
, 2000 Ryuji Kobayashi
openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart +12 more
wiley +1 more source
Altered gut microbiota and short chain fatty acids in Chinese children with autism spectrum disorder
Scientific Reports, 2019 Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by impairments in social interactions and communication, restricted interests and repetitive behaviors. Several studies report a high prevalence of gastrointestinal (GI)
Simeng Liu +10 more
doaj +1 more source
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals [PDF]
, 2001 Maria Johansson +5 more
openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino +8 more
wiley +1 more source
Measles-mumps-rubella vaccine and autistic spectrum disorder: A hypothesis only [PDF]
, 2001 openalex +1 more source