Results 11 to 20 of about 17,892,622 (135)

Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study [PDF]

Frontiers in Genetics, 2014
Fragile X-associated primary ovarian insufficiency (FXPOI) is due to an X-linked mutation that results from the expansion of a CGG repeat sequence located in the 5' untranslated region of the FMR1 gene (premutation, PM).
Emily G. Allen, Wendy E. Grus, Sarayu eNarayan, Whitney eEspinel, Stephanie L. Sherman   +4 more
doaj   +9 more sources

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review [PDF]

Frontiers in Genetics, 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.
Dorothy A. Fink, Lawrence M. Nelson, Reed Pyeritz, Josh Johnson, Stephanie L. Sherman, Yoram Cohen, Shai E. Elizur   +6 more
doaj   +7 more sources

Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations [PDF]

Frontiers in Molecular Neuroscience, 2017
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism.
Limor Man, Jovana Lekovich, Zev Rosenwaks, Jeannine Gerhardt   +3 more
doaj   +7 more sources

An unusual case of fragile X associated primary ovarian insufficiency [PDF]

Indian Journal of Endocrinology and Metabolism, 2020
Karthik Subramaniam, Hemanth K Prasad
doaj   +4 more sources

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). [PDF]

J Clin Med, 2022
Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that
Alvarez-Mora MI, Agusti I, Wijngaard R, Martinez-Barrios E, Barcos T, Borras A, Peralta S, Guimera M, Goday A, Manau D, Rodriguez-Revenga L.   +10 more
europepmc   +4 more sources

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). [PDF]

J Neurodev Disord, 2014
Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of women who carry the premutation allele (55 to 200 unmethylated CGG repeats) develop hypergonadotropic hypogonadism and cease menstruating ...
Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, Willemsen R, Usdin K.   +7 more
europepmc   +9 more sources

Women’s Healthcare Providers’ Knowledge and Practices Surrounding Fragile-X Associated Primary Ovarian Insufficiency (FXPOI) [PDF]

Journal of Assisted Reproduction and Genetics
This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis.
Heather Hipp, Emily Graves Allen, Alexandra L Singleton   +2 more
exaly   +4 more sources

Cardiovascular Problems in the Fragile X Premutation [PDF]

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +2 more sources

Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved]

F1000Research, 2017
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections;
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman   +5 more
doaj   +2 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj   +2 more sources