Results 71 to 80 of about 8,261 (127)

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome

Biology
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene.
Maja Stojkovic, Milan Petrovic, Maria Capovilla, Sara Milojevic, Vedrana Makevic, Dejan B. Budimirovic, Louise Corscadden, Shuhan He, Dragana Protic   +8 more
doaj   +1 more source

Women with the FMR1 premutation: a within-family observational sibling study

BMJ Connections Clinical Genetics and Genomics
Introduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carriers, their families and clinicians ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M Berry-Kravis, Marsha Mailick   +4 more
doaj   +1 more source

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

Reproductive Biology and Endocrinology
Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI).
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge   +10 more
doaj   +1 more source

The elusive folding mechanism of KH1 domain of Fragile X messenger ribonucleoprotein 1

Francesca Troilo, Flavia Catalano, Eleonora Comparini, G. Pistoia, Giorgio Giardina, Adele Di Matteo, Angelo Toto, Carlo Travaglini‐Allocatelli   +7 more
openalex   +1 more source

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

Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype

Roslyn Harold, Roma Kamat, Wei Siong Neo, Keisha Novak, Gianna Nossa, Humberto Monsivais, Phillip Durham, Xiaopeng Zhou, Ulrike Dydak, Elizabeth Berry-Kravis, Dan Foti, Bridgette L. Kelleher   +11 more
openalex   +1 more source

<i>Fmr1</i> Deletion and Early-Life Stress Interact to Increase Cell Proliferation and Glial Populations at the Expense of Immature Neurons in the Adult Dentate Gyrus. [PDF]

Int J Mol Sci
Latchney SE, Ominuta JE, Smitha LEL, Blandin KJ, Lugo JN.   +4 more
europepmc   +1 more source

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. [PDF]

Front Neurosci
Huang J, Kang B, Xia X, Guo Z, Lv Y, Yang W, Wang C, Wang J, Liao S.   +8 more
europepmc   +1 more source

Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome. [PDF]

J Neurodev Disord
Pu Q, Bennett N, Sekhar TC, Stanley MT, Berry-Kravis E.   +4 more
europepmc   +1 more source