The prevalence of Fragile X - associated disorders in Australia
, 2010 Fragile X is a group of associated genetic disorders (FXDs) that include: Fragile X Syndrome (FXS) - most common cause of inherited intellectual disability, behavioural disorders and speech and language delays that manifest in early childhood ...
Laurie Brown
core
Three Faces of Fragile X Syndrome [PDF]
, 2017 Fragile X Syndrome (FXS) is well known and widely recognized in pediatrics. Less well known is that FXS, as an X-linked disorder of the FMR1 gene, is but one of three impairments that all have a common single-gene genetic basis.
Lieb-Lundell, Cornelia
core +1 more source
Risk estimate for fragile X- associated primary ovarian insufficiency: genetic, environmental and reproductive factors [PDF]
, 2011 Contains fulltext : 90839.pdf (Publisher’s version ) (Open Access)
openaire
, 2020 The CGG repeats in the FMR1 gene expand in patients with fragile X syndrome, fragile X-associated tremour/ataxia syndrome and fragile X-associated primary ovarian failure.
Akbari, M.T. +2 more
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Retrospective analysis of the efficacy of ART and reproductive outcomes in females with Fragile X associated primary ovarian insufficiency [PDF]
Fertility and Sterility, 2016 L. Tan +9 more
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Modeling fragile X-associated primary ovarian insufficiency (FXPOI) via ectopically expressed CGG99 repeats [PDF]
Fertility and Sterility, 2018 K.E. Shelly, N. Candelaria, D. Nelson
openaire +1 more source
Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosed [PDF]
, 2011 2nd advanced courseThe FMR1 gene [Xq27.3; MIM*309550] has an unstable region comprised of CGG triplets located the 5´untranslated region. Based on the number of those repeats alleles are classified as normal, intermediate, premutation or full mutation ...
Marques, Isabel +2 more
core
Primary Ovarian Insufficiency : X chromosome defects and autoimmunity
, 2009 Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles before the age of 40 years.
R. Rossetti +3 more
core +1 more source
The FMR1 gene and fragile X-associated tremor/ataxia syndrome
, 2009 The CGG-repeat present in the 5′UTR of the FMR1 gene is unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population.
B.A. Oostra +8 more
core +1 more source
Fragile X primary ovarian insufficiency. [PDF]
Colomb Med (Cali)Boutrid N, Rahmoune H.
europepmc +2 more sources