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Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections;
Akash Rajaratnam +5 more
doaj +4 more sources
Pediatric Neurology Briefs, 1987 Japanese patients with infantile autism were studied cytogenetically for the occurrence of fragile X (fra(x)) syndrome at the Universities of Kurume and Nagasaki.
J Gordon Millichap
doaj +9 more sources
Current Biology, 2021 Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
Paul J. Hagerman, Randi Hagerman
semanticscholar +4 more sources
Pediatric Neurology Briefs, 1988 A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj +5 more sources
Psychopathology in Fragile X Syndrome
Pediatric Neurology Briefs, 1989 The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
doaj +3 more sources
Developmental studies in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2020 Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak +2 more
doaj +2 more sources
Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
doaj +3 more sources
Epigenetics of fragile X syndrome and fragile X‐related disorders [PDF]
Developmental Medicine & Child Neurology, 2018 The fragile X mental retardation 1 gene (FMR1)‐related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
C. Kraan, D. Godler, D. Amor
semanticscholar +5 more sources
Modeling Fragile X Syndrome in Drosophila
Frontiers in Molecular Neuroscience, 2018 Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd +5 more
doaj +2 more sources
Archivio stomatologico, 1990 The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
Simon Halstead +2 more
openalex +4 more sources