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Advances in Pediatrics, 1994
1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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Archivio stomatologico, 1990
The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats
Nature, 2023Don W Cleveland, , Julia Su Zhou Li
exaly
The molecular basis of common and rare fragile sites
Cancer Letters, 2006Michal Schwartz, BATSHEVA Kerem
exaly
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
Cell, 2018Charles Han Li +2 more
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Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders
Annual Review of Medicine, 2019Jelena Popić +2 more
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