Results 121 to 130 of about 3,423 (189)

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models

, 2007
Fragile X syndrome is caused by the absence or reduction of the fragile X mental retardation protein (FMRP) because FMR1 gene expression is reduced. Alleles with repeat sizes of 55-200 are classified as premutations, and it has been demonstrated that ...
Garcia Alegria, Eva, Arantza, Sanz-Parra, Elena, Beristain, Valiente, Alberto, Martínez-Bouzas, Cristina, Monica, Minguez, Poch, Marisa, Tejada, Maria-Isabel, Ibanez, Berta   +8 more
core   +1 more source

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation

Neurobiology of Disease
Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by the FMR1 premutation allele, is associated with brain degeneration, yet the mechanisms behind this neurodegeneration still need to be elucidated.
Poonnada Jiraanont, Jun Yi Wang, Blythe Durbin-Johnson, Ye Hyun Hwang, David Hessl, Susan M. Rivera, Randi J. Hagerman, Flora Tassone   +7 more
doaj   +1 more source

Clinical implications of somatic allele expansion in female FMR1 premutation carriers. [PDF]

Sci Rep, 2023
Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, Hagerman R, Tassone F.   +7 more
europepmc   +1 more source

Verbal Fluency in Women With the FMR1 Premutation and the Broad Autism Phenotype

, 2021
Women who carry a premutation allele on the FMR1 gene can experience limitations due to their genetic status, including executive function deficits. These subtle deficits are often shared by women who possess the broad autism phenotype (BAP).
Szabo, Emily
core  

Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS). [PDF]

Cells, 2023
Santos E, Clark C, Biag HMB, Tang SJ, Kim K, Ponzini MD, Schneider A, Giulivi C, Montanaro FAM, Gipe JT, Dayton J, Randol JL, Yao PJ, Manolopoulos A, Kapogiannis D, Hwang YH, Hagerman P, Hagerman R, Tassone F.   +18 more
europepmc   +1 more source

The association between a carrier state of FMR1 premutation and numeric sex chromosome variations. [PDF]

J Assist Reprod Genet, 2023
Malcov M, Blickstein O, Brabbing-Goldstein D, Reches A, Kalma Y, Fouks Y, Azem F, Cohen Y.   +7 more
europepmc   +1 more source

The Relationship Between General Anxiety and Language Dysfluencies in Mothers with the FMR1 Premutation

, 2017
The FMR1 premutation is an X-linked genetic mutation that causes an increase in CGG repeats on the FMR1 gene. This mutation affects one in every 151 females.
Nolan, Haley
core  

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. [PDF]

Cells, 2023
Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F.   +9 more
europepmc   +1 more source

Harms of Deception in FMR1 Premutation Genotype-Driven Recruitment [PDF]

The American Journal of Bioethics, 2017
Sam, Doernberg, Sara Chandros, Hull
openaire   +2 more sources

The FMR1 Premutation Phenotype and Mother-Youth Synchrony in Fragile X Syndrome. [PDF]

Am J Intellect Dev Disabil, 2021
Moser C, Mattie L, Abbeduto L, Klusek J.
europepmc   +1 more source