Results 1 to 10 of about 503,381 (321)

Fragile X syndrome. [PDF]

Colombia medica (Cali, Colombia), 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 therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a ...
Saldarriaga, Wilmar, Tassone, Flora, González-Teshima, Laura Yuriko, Forero-Forero, Jose Vicente, Ayala-Zapata, Sebastián, Hagerman, Randi   +5 more
openaire   +8 more sources

Fragile X Syndrome

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   +5 more sources

Fragile-X Syndrome

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   +4 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, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman   +5 more
doaj   +3 more sources

Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of fragile X syndrome. [PDF]

Elife
Wang HB, Smale NE, Brown SH, Villanueva SAMB, Zhou D, Mulji A, Bhandal DS, Nguyen-Ngo K, Harvey JR, Ghiani CA, Colwell CS.   +10 more
europepmc   +2 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, Kirsten Johnson, Jörg Richstein   +2 more
doaj   +1 more source

Fragile X Syndrome: Recent Research Updates toward Capturing Treatments’ Improvement in Clinical Trials

Brain Sciences, 2022
This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Dejan B. Budimirovic, Dragana D. Protic
doaj   +1 more source

Fragile X syndrome [PDF]

European Journal of Human Genetics, 2008
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B, Garber, Jeannie, Visootsak, Stephen T, Warren   +2 more
openaire   +2 more sources

Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source

FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [PDF]

Vojnosanitetski Pregled, 2016
nema
Budimirovic Dejan B., Protic Dragana
doaj   +1 more source