Results 21 to 30 of about 7,289,232 (294)
European Journal of Human Genetics, 2008 Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B, Garber +2 more
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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
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Autism and Developmental Language Impairments, 2017 Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome.
Emily Lorang, Audra Sterling,
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Developmental studies in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2020 Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak +2 more
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RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
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Screening for fragile X syndrome.
Health Technology Assessment, 1997 : BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
Murray, Cuckle, Taylor, Hewison
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Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome
Nature Communications, 2022 Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.
Sang S. Seo +11 more
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STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]
, 2010 Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]
PLoS ONE, 2015 Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst +11 more
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Genetics and Molecular Biology, 2002 Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego +5 more
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