Results 21 to 30 of about 39,289 (120)

Early Diagnosis of Fragile X Syndrome

Pediatric Neurology Briefs, 2003
Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill, NC.
J Gordon Millichap
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Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

Stem Cell Research, 2020
Expansion over 200 CGG repeats in FMR1 gene causes inherited intellectual disability or autism spectrum disorder named as fragile X syndrome. Despite the known cause fragile X syndrome pathogenesis has not been specified yet. The ICGi026-A iPSCs line was
M.M. Gridina, P.A. Orlova, J.M. Minina, E.M. Shitik, N.A. Lemskaya, I.V. Grishchenko, A.A. Dolskiy, A.R. Shorina, Y.V. Maksimova, D.V. Yudkin, O.L. Serov   +10 more
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Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome [PDF]

Kosin Medical Journal, 2017
We report a case of Spontaneous coronary artery dissection associated with fragile X syndrome. The relationship between fragile X syndrome and Spontaneous coronary artery dissection is unclear.
Hyun-Young Park, Jin-Man Cho, Dong-Hee Kim, Chang-Bum Park, Chong-Jin Kim   +4 more
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Auditory Processing in Fragile X Syndrome

Frontiers in Cellular Neuroscience, 2014
Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication.
Sarah E Rotschafer, Khaleel A Razak
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Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
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Fragile X Syndrome

Journal of Health Science and Medical Research (JHSMR), 2012
Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%.
Ninlapa Pruksanusak, Pornprot Limprasert
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Pathological Plasticity in Fragile X Syndrome

Neural Plasticity, 2012
Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene, FMR1, results in a variety of neurological consequences directly related to ...
Brandon S. Martin, Molly M. Huntsman
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Molecular Biomarkers in Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD).
Marwa Zafarullah, Flora Tassone
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Neural progenitor cells from an adult patient with fragile X syndrome

BMC Medical Genetics, 2005
Background Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment.
Nethercott Hubert E, Greco Claudia M, Tassone Flora, Schwartz Philip H, Ziaeian Boback, Hagerman Randi J, Hagerman Paul J   +6 more
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The molecular basis of the Fragile X syndrome

Journal of Experimental and Molecular Biology, 2023
This analysis aimed to clarify the molecular basis of fragile X syndrome and explain the role of genetic material in the genetic disease's development and treatment. Fragile X syndrome is an X-linked mutation inheritance disorder.
Harem Othman smail
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