Results 21 to 30 of about 7,199,374 (204)

An “Omic” Overview of Fragile X Syndrome

Biology, 2021
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its ...
Olivier Dionne, François Corbin
doaj   +1 more source

New Targeted Treatments for Fragile X Syndrome [PDF]

, 2019
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of \u3e200 Cytosine Guanine Guanine (CGG) repeats in the 5\u27 untranslated
Potter, Laura A, Salcedo-Arellano, Maria J, Hagerman, Randi J, Protic, Dragana, Dy, Jeanne Barbara   +4 more
core   +2 more sources

Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice

Cell Reports, 2023
Summary: Individuals with fragile X syndrome (FXS) are frequently diagnosed with autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviors (RRBs).
Francesco Longo, Sameer Aryal, Paul G. Anastasiades, Marta Maltese, Corey Baimel, Federica Albanese, Joanna Tabor, Jeffrey D. Zhu, Mauricio M. Oliveira, Denise Gastaldo, Claudia Bagni, Emanuela Santini, Nicolas X. Tritsch, Adam G. Carter, Eric Klann   +14 more
doaj   +1 more source

Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome

Frontiers in Genetics, 2022
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are primary examples of fragile X-related disorders (FXDs) caused by abnormal expansion of CGG repeats above a certain threshold in the 5′-untranslated region of the fragile
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi   +2 more
doaj   +1 more source

Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome

Frontiers in Genetics, 2019
Fragile X syndrome (FXS) is the most common congenital hereditary disease of low intelligence after Down syndrome. Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X ...
Ge Huang, He Zhu, Shuying Wu, Manhua Cui, Tianmin Xu   +4 more
doaj   +1 more source

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening [PDF]

Health Expectations, 2012
AbstractBackgroundGenetic carrier screening is increasingly possible for many conditions, but it is important to ensure decisions are informed. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to evaluate informed choice in prenatal screening for Down syndrome, measuring knowledge, attitudes and uptake.
Alice G, Ames, Alice, Jaques, Obioha C, Ukoumunne, Alison D, Archibald, Rony E, Duncan, Jon, Emery, Sylvia A, Metcalfe   +6 more
openaire   +2 more sources

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

Stem Cell Reports, 2015
Summary: Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients’ fibroblasts.
Tomer Halevy, Christian Czech, Nissim Benvenisty   +2 more
doaj   +1 more source

Fragile X Syndrome: From Molecular Aspect to Clinical Treatment [PDF]

, 2022
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome.
Randi J. Hagerman, Aishworiya, Ramkumar, Ramkumar Aishworiya, Jelena Milisavljevic, Hagerman, Randi J, Tang, Si Jie, Filip Mitrovic, Milisavljevic, Jelena, Mitrovic, Filip, Budimirovic, Dejan B, Si Jie Tang, Protic, Dragana D, Dejan B. Budimirovic, Dragana D. Protic, Maria Jimena Salcedo-Arellano, Salcedo-Arellano, Maria Jimena   +15 more
core   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study

Journal of Neurodevelopmental Disorders, 2019
Background Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically
Michael P. Hong, Eleanor M. Eckert, Ernest V. Pedapati, Rebecca C. Shaffer, Kelli C. Dominick, Logan K. Wink, John A. Sweeney, Craig A. Erickson   +7 more
doaj   +1 more source