Results 201 to 210 of about 28,343 (239)

Detection of FMR1 CGG Repeat Expansions Using Buccal Swab and Blood Samples of Children With Intellectual Disability in A Resource-Limited Country. [PDF]

J Genet Eng Biotechnol
Aulia SF, Amir M, Razari I, Prayuni K, Nedra W, Damayanti NA, Irwandi N, Utomo A, Tan VJ, Chong SS, Faradz SMH.   +10 more
europepmc   +1 more source

Characterization of copy number variation and methylation status of the FMR1 and AFF2 genes through MS-MLPA in males with X-linked intellectual disability

, 2015
Thaís Fernandez Gonçalves
openalex   +1 more source

Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome. [PDF]

J Neurosci
Vlasits AL, Syeda M, Wickman A, Laskey E, Guzman P, Schmidt TM.   +5 more
europepmc   +1 more source

Epigenetic Editing in Neurological and Neuropsychiatric Disorders: Pioneering Next-Gen Therapeutics for Precision Gene Control. [PDF]

Mol Neurobiol
Marei HE.
europepmc   +1 more source

The implications of LncRNAs and premature ovarian insufficiency. [PDF]

J Ovarian Res
Zhao Q, Li XL, Lin GY, Sui CL, Zhang BF, Bai YQ, Xu LW.   +6 more
europepmc   +1 more source

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Expression of the FMR1 gene

Cytogenetic and Genome Research, 2003
Fragile X syndrome is a trinucleotide repeat disorder in which a (CGG)_n element located within the 5′ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene expands to more than 200 copies (full mutation) and becomes hypermethylated.
F, Tassone, P J, Hagerman
openaire   +2 more sources

The FMR1 premutation and reproduction

Fertility and Sterility, 2007
To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk
Michael D, Wittenberger, Randi J, Hagerman, Stephanie L, Sherman, Allyn, McConkie-Rosell, Corrine K, Welt, Robert W, Rebar, Emily C, Corrigan, Joe Leigh, Simpson, Lawrence M, Nelson   +8 more
openaire   +2 more sources