Results 141 to 150 of about 15,002 (209)

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan. [PDF]

BMC Genom Data
Chen L, Zhang X, Song Y, Chen L, He Y, Li Y, Cai Y, Shi Q.   +7 more
europepmc   +1 more source

Screening of CGG Trinucleotide Repeats Within <i>FMR1</i> Gene in Bangladeshi Children With Autism Spectrum Disorder: Exploring a Possible Link With Fragile X Syndrome. [PDF]

J Korean Acad Child Adolesc Psychiatry
Noman AA, Saba AA, Adiba M, Rahman M, Sayem M, Nabi AHMN, Yasmin T.   +6 more
europepmc   +1 more source

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers. [PDF]

Brain Sci, 2020
Wang Z, Lane C, Terza M, Khemani P, Lui S, McKinney WS, Mosconi MW.   +6 more
europepmc   +1 more source

Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene. [PDF]

Int J Mol Sci, 2021
Nolin SL, Napoli E, Flores A, Hagerman RJ, Giulivi C.   +4 more
europepmc   +1 more source

Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome. [PDF]

Biol Sex Differ
Giua G, Iezzi D, Caceres-Rodriguez A, Strauss B, Chavis P, Manzoni OJ.   +5 more
europepmc   +1 more source

Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice. [PDF]

Genes (Basel)
Agustí I, Méndez M, Borrás A, Goday A, Guimerà M, Peralta S, Ribera L, Rodriguez-Revenga L, Manau D.   +8 more
europepmc   +1 more source

Reduced RNA expression of the FMR1 gene in women with low (CGGn<26) repeats. [PDF]

PLoS One, 2018
Wang Q, Barad DH, Darmon SK, Kushnir VA, Wu YG, Lazzaroni-Tealdi E, Zhang L, Albertini DF, Gleicher N.   +8 more
europepmc   +1 more source

NORMAL PHENOTYPE IN 2 BROTHERS WITH A FULL FMR1 MUTATION

, 1995
The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene.
VERHEIJ, CE, WILLEMSEN, R, HOOGEVEEN, AT, SMEETS, HJM, SMITS, APT, Oosterwijk, JC, OOSTRA, BA, THEELEN, JPG, VANDEBURGT, [No Value]   +8 more
core  

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age. [PDF]

BMC Med Genet, 2019
Ma Y, Wei X, Pan H, Wang S, Wang X, Liu X, Zou L, Wang X, Wang X, Yang H, Wang F, Wang K, Sun L, Qiao X, Yang Y, Ma X, Liu D, Ding G, Ma J, Yang X, Zhu S, Qi Y, Yin C.   +22 more
europepmc   +1 more source

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity. [PDF]

Mol Genet Genomic Med, 2019
Manor E, Gonen R, Sarussi B, Keidar-Friedman D, Kumar J, Tang HT, Tassone F.   +6 more
europepmc   +1 more source