16 мая 2024 г. · FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency ( ... GeneReviews · Genes and Databases]. · Table 6. [Fragile X Syndrome

Review Unstable mutations in the FMR1 gene and the phenotypes. Loesch D, Hagerman R. Adv Exp Med Biol. 2012; 769:78-114.

1 апр. 2020 г. · The FMR1 gene provides instructions for making a protein called FMRP. Learn about this gene and related health conditions.

The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation.

FMR1 disorders. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle. Last update Nov 2019; accessed Apr 2024.

15 мая 2024 г. · With each pregnancy, a woman with a premutation in one of her FMR1 genes has a 50% chance of passing on either the premutation or a full ...

1 апр. 2020 г. · Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive ...

2 нояб. 2022 г. · Fragile X Syndrome is caused by a full mutation of the FMR1 gene. Fragile X-associated tremor/ataxia syndrome and primary ovarian ... Testing and Diagnosis · Females · Fxtas · Premutation Carriers

In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum. Molec. Genet. 7: 109-113, 1998. [PubMed: 9384610, related citations] [Full Text].

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical ...