Results 91 to 100 of about 109,973,714 (148)

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

The influence of gallic acid on the lipid profile of the Drosophila melanogaster model of fragile X syndrome

high compatibility with the human genome. Around 75% of human genes causing diseases have orthologues in the fly's genome. One such gene with ortholog in Drosophila is Fragile X Messenger Ribonucleoprotein 1 (FMR1).
Trajković, Ksenia, Protić, Dragana, Tosti, Tomislav, Milojević, Sara, Stojković, Maja, Tasić, Aleksandra   +5 more
core  

Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research

Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the single-gene cause of autism, is caused by decreased expression of the fragile X messenger ribonucleoprotein protein (FMRP), a ribosomal-associated RNA-binding ...
Jeffrey L. Neul
core   +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

Shaping the fragile brain : early-life stress and Fmr1 deletion alter synaptic and behavioral trajectories in a mouse model of Fragile X Syndrome.

Fragile X syndrome (FXS), the most heritable cause of intellectual disability and autism spectrum disorder (ASD), affects 1 in 7,000 males and 1 in 11,000 females. FXS results from reduced translation of the Fragile X messenger ribonucleoprotein 1 (FMR1)
Blandin, Katherine J. (Katherine Julie), 1996-
core   +2 more sources

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

The majority of patients affected by fragile X syndrome (OMIM #300624), a common inherited form of autism spectrum disorders and intellectual disability, displays a CGG triplet repeat expansion in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene ...
Van Dijck, Anke, Bastini, Lina, van Eeghen, Agnies M., Kooy, R. Frank, van Haelst, Mieke, Dierickx, Bram, Mateiu, Ligia, Annear, Dale John, Elinck, Ellen, Vingerhoets, Claudia, Konings, Anthony, D'Incal, Claudio Peter, D’Incal, Claudio Peter, D' Incal, Claudio   +13 more
core   +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. [PDF]

Neurobiol Dis
Harold R, Kamat R, Neo WS, Novak K, Nossa G, Monsivais H, Durham P, Zhou X, Dydak U, Berry-Kravis E, Foti D, Kelleher BL.   +11 more
europepmc   +1 more source

Autonomic Nervous System Function and Sensory Sensitivity in 12-Month-Old Infants with the <i>FMR1</i> Premutation. [PDF]

Int J Mol Sci
Morton A, Arnold H, Hamrick L, Chase A, Cobb S, Roberts J.   +5 more
europepmc   +1 more source

Evolution of fragile X syndrome and neurodevelopmental disorders research: a Scopus-based bibliometric analysis. [PDF]

J Yeungnam Med Sci
Zakaria WNA, Yunus NM, Annuar AA, Aziz AAA, Musa N, Husain M, Rawi RM.   +6 more
europepmc   +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