Results 1 to 10 of about 815 (125)

FXPOI: Pattern of AGG Interruptions Does Not Show an Association With Age at Amenorrhea Among Women With a Premutation [PDF]

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.
Sarah Nolin, Heather Hipp, Stephanie L Sherman   +2 more
exaly   +6 more sources

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).
Stephanie L Sherman
exaly   +7 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.
Yoram Cohen, Stephanie L Sherman, Reed Pyeritz   +2 more
exaly   +5 more sources

Clinical implications of somatic allele expansion in female FMR1 premutation carriers [PDF]

Scientific Reports, 2023
Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ovarian ...
Ramkumar Aishworiya, Ye Hyun Hwang, Ellery Santos, Bruce Hayward, Karen Usdin, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone   +7 more
doaj   +3 more sources

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea [PDF]

Reproductive Biology and Endocrinology
Background 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, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge   +10 more
doaj   +3 more sources

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers [PDF]

Journal of Ovarian Research
Background Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga   +9 more
doaj   +2 more sources

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman   +45 more
doaj   +2 more sources

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation [PDF]

Genetics in Medicine Open, 2023
Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare.
Claudine M. Kraan, Minh Bui, Alison Archibald, Sonia Davison, Rachel C. Cvejic, Sylvia Metcalfe, David J. Amor, Julian N. Trollor, Jonathan Cohen, Kim Cornish   +9 more
doaj   +2 more sources

Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Neurology
ObjectiveThe authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG ...
James A. Bourgeois, Andrea Schneider, Jessica Klusek, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randi J. Hagerman   +7 more
doaj   +2 more sources

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion [PDF]

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +2 more sources