Cargando…
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
BACKGROUND: The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGG(n)< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles. CASE PRESENTATION:...
Autores principales: | Miano, Maria Giuseppina, Laperuta, Carmela, Chiurazzi, Pietro, D'Urso, Michele, Ursini, Matilde Valeria |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1859987/ https://www.ncbi.nlm.nih.gov/pubmed/17428316 http://dx.doi.org/10.1186/1471-2350-8-18 |
Ejemplares similares
-
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
por: Herring, Jonathan, et al.
Publicado: (2022) -
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
por: Laperuta, Carmela, et al.
Publicado: (2007) -
Comment on Herring et al. The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations. Cells 2022, 11, 1044
por: Bruford, Elspeth
Publicado: (2022) -
The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC)
por: Clark, Rosie, et al.
Publicado: (2020) -
Folate deficiency drives mitotic missegregation of the human FRAXA locus
por: Bjerregaard, Victoria A., et al.
Publicado: (2018)