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Fragile X Syndrome

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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[Fragile X syndrome].

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 Syndromea

Annals of the New York Academy of Sciences, 1986
W T, Brown   +9 more
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ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome

Cell, 2020
Pawel Licznerski   +2 more
exaly  

Fragile sites in cancer: more than meets the eye

Nature Reviews Cancer, 2017
Thomas E Wilson   +2 more
exaly  

The molecular basis of common and rare fragile sites

Cancer Letters, 2006
Michal Schwartz, BATSHEVA Kerem
exaly  

Large common fragile site genes and cancer

Seminars in Cancer Biology, 2007
David I Smith
exaly  

Rapid antibody test for fragile X syndrome

Lancet, The, 1995
A Van Den Ouweland   +2 more
exaly  

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