Results 61 to 70 of about 17,892,622 (135)
Frontiers in Genetics, 2018 Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40.
Emily G. Allen +9 more
doaj +1 more source
Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia [PDF]
, 2019 Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder.
Randi J. Hagerman +17 more
core +1 more source
Orphanet Journal of Rare DiseasesBackground and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro +8 more
doaj +1 more source
Primary ovarian insufficiency: an update
, 2014 Leticia Cox, James H LiuUH Case Medical Center, MacDonald Women's Hospital, Department of Obstetrics and Gynecology, Case Western Reserve University School of Medicine, Department of Reproductive Biology, Cleveland, OH, USAAbstract: Primary ovarian ...
Liu JH, Cox L
core
Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.
, 2014 Carriers of fragile X syndrome can present with a broad spectrum of clinical disordersFragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct ...
Nielsen, Jørgen E +4 more
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RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
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Broad clinical involvement in a family affected by the fragile X premutation [PDF]
, 2009 The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with
Randi J. Hagerman +11 more
core +1 more source
, 2018 Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages.
Stephanie L. Sherman (88360) +6 more
core +1 more source
Reproductive Biology and EndocrinologyBackground Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI).
Bárbara Rodrigues +10 more
doaj +1 more source
, 2018 Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages.
Stephanie L. Sherman (88360) +6 more
core +1 more source