Results 61 to 70 of about 6,083,486 (156)
Fragile X mental retardation 1 and Filamin A interact genetically in Drosophila long-term memory
The last decade has witnessed the identification of single-gene defects associated with an impressive number of mental retardation syndromes. Fragile X syndrome, the most common cause of mental retardation for instance, results from disruption of the ...
Francois Bolduc +6 more
doaj +1 more source
Facts About Fragile X Syndrome [PDF]
Fragile X syndrome (FXS) is the most common known cause of intellectual disability that can be inherited, which means in can be passed from parent to child. FXS affects both males and females. However, females often have milder symptoms than males.
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Attentional deficits and executive function impairments are common to many neurodevelopmental disorders of intellectual disability and autism, including Fragile X syndrome.
Ioannis eKramvis +5 more
doaj +1 more source
The application of Motion Analysis in Fragile X Syndrome
reservedLa Sindrome dell’X Fragile (FXS) è la condizione monogenica ereditaria che produce più casi di disturbi dello spettro autistico e disabilità intellettive. La causa di questa patologia risiede nella mutazione del gene FMR1 situato nel cromosoma
BOSCHETTI, VALERIA
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X Fragile Syndrome in women: behavioral characteristics and social skills [PDF]
openLa Sindrome dell'X Fragile è la principale causa genetica ereditaria di autismo e disabilità intellettiva. Nel seguente elaborato verrà approfondita, attraverso una revisione della letteratura più recente, la condizione delle donne affette da ...
AFFINI, CATERINA
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Symbolic and non symbolic mathematical abilities in Fragile X syndrome: a pilot study with school-age children [PDF]
openLa sindrome dell’X fragile è la prima causa di disabilità intellettiva e di disordine dello spettro autistico ereditaria. La sindrome è causata dall’espansione della tripletta CGG nella regione promotrice del gene FMR1 del braccio lungo del ...
CHERUBINI, GIULIA
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IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
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Epigenetic insights into Fragile X Syndrome
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie +8 more
doaj +1 more source
Progress toward therapeutic potential for AFQ056 in Fragile X syndrome
Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Cheng C, Sourial M, Doering LC
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Impaired phagocytosis in fragile X
Defects in phagocytosis underlie both neurological and immunological symptoms in a fly model of fragile X syndrome.
Alexandra A. Mushegian
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