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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
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
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
Epigenetic insights into Fragile X Syndrome [PDF]
Frontiers in Cell and Developmental BiologyFragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie +8 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
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Cells, 2022 The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring +2 more
doaj +1 more source
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%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism.
McLennan, Yingratana +3 more
openaire +6 more sources