Results 51 to 60 of about 815 (125)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
Patologías asociadas a la premutación del gen FMR1 [PDF]
, 2016 Históricamente, los individuos portadores de alelos premutados se consideraban asintomáticos dado que no manifestaban discapacidad intelectual. Sin embargo, desde el año 2000 se han descrito dos patologías de aparición tardía asociadas específicamente a ...
Álvarez Mora, María Isabel
core +5 more sources
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency [PDF]
, 2016 STUDY QUESTION: Does repeat-associated non-AUG (RAN) translation play a role in fragile X-associated primary ovarian insufficiency (FXPOI), leading to the presence of polyglycine containing protein (FMRpolyG)-positive inclusions in ovarian tissue ...
Visser, J. A. +35 more
core +1 more source
Image_1_Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.jpg
, 2021 Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Stephanie L. Sherman (8120555) +8 more
core +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 607-611, March 2026.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
, 2018 Objective: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation ...
Simsek-Kiper, Pelin Ozlem +8 more
core +1 more source
From dynamic FMR1 mutation to variable phenotypes: A case series from a large Tunisian family
Neurology and Clinical Neuroscience, Volume 13, Issue 2, Page 107-114, March 2025.Abstract Background Fragile X messenger ribonucleoprotein 1 gene (FMR1) disorders result from a mutation in the FMR1 gene, leading to a deficiency or absence of the FMRP. Full mutations and premutations of the FMR1 gene are known to cause completely different symptoms.
Imen Ketata, Emna Ellouz
wiley +1 more source
FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.
PLoS ONE, 2016 Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario +6 more
doaj +1 more source
Data_Sheet_1_Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.docx
, 2021 Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Stephanie L. Sherman (8120555) +8 more
core +1 more source
Clinical Genetics, Volume 107, Issue 1, Page 56-66, January 2025.Our study revealed that Nigerian doctors had limited knowledge and perceptions of FXS and FXPAC. However, those with better knowledge showed significantly improved perceptions. Encouragingly, most participants were eager to suggest ways to enhance doctors' understanding and management of these conditions.
Chioma N. P. Mbachu +11 more
wiley +1 more source