Results 11 to 20 of about 206,873 (358)
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 +11 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
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 +6 more sources
Current Genomics, 2011 Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%).
Hagerman, Randi +3 more
core +9 more sources
, 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián +5 more
core +5 more sources
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995 Davies, Kay E. +4 more
core +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
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 +3 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