Results 31 to 40 of about 17,892,622 (135)

Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source

Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls. [PDF]

Histopathology, 2011
Sir: The fragile X premutation, an expansion of a CGG triplet repeat in the 5′-untranslated region of the FMR1 gene (55–200 repeats), is one of the most common aetiologies of primary ovarian insufficiency: fragile X-associated primary ovarian insufficiency (FXPOI).1–3 Men who carry the premutation are at increased risk for a late-onset ...
Chang MC, DeCaro JJ, Zheng M, Gearing M, Shubeck L, Sherman SL, Welt CK.   +6 more
europepmc   +4 more sources

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

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   +1 more source

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency [PDF]

, 2021
Research Question. Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21 year old woman with primary amenorrhea. Design. A karyotype and genetic testing for Fragile X syndrome was undertaken.
Beaman, Glenda, Demain, Leigh, Miles, Emma K., Edgerley, Jonathan J, Newman, William; id_orcid, Busby, G, Fitzgerald, Cheryl, O'Keefe, Raymond; id_orcid, O'Sullivan, James, James O'Sullivan, O'Sullivan, James; id_orcid, Gail Busby, Cheryl T. Fitzgerald, Emma Miles, Eline Boetje, William G. Newman, Raymond T. O'Keefe, Glenda M. Beaman, Leigh A.M. Demain, Jonathan J. Edgerley   +19 more
core   +1 more source

Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function [PDF]

Human Reproduction, 2011
The FMR1 premutation is associated with overt primary ovarian insufficiency (POI). However, its prevalence in women with occult POI (i.e. menstrual cycles, but impaired ovarian response) has not been examined. We hypothesized that both the FMR1 premutation and intermediate allele is more frequent in infertile women with occult POI than in controls, and
C B, Karimov, V A, Moragianni, A, Cronister, S, Srouji, J, Petrozza, C, Racowsky, E, Ginsburg, K L, Thornton, C K, Welt   +8 more
openaire   +2 more sources

A design thinking approach to primary ovarian insufficiency

, 2017
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems ...
Jiang, Xuezhi, Porter, Alison G, Hall, Janet E, Rajkovic, Aleksandar, Fair, Ryan, Schnatz, Peter F, Kleinstreuer, Nicole, Pelligrini, Vincent A, Verbiest, Sarah, Olmstead, Jill, Rachel\u27s Well Primary Ovarian Insufficiency Community of Practice Group, Nelson, Lawrence M, Persani, Luca, Falorni, Alberto, Mehta, Khanjan, Martin, Lisa A, L. A. Martin, P. F. Schnatz, J. E. Hall, A. Falorni, Khanjan Mehta, L. M. Nelson, Alison G. Porter, L. Persani, Lawrence M. Nelson, Janet E. Hall, Alberto Falorni, A. G. Porter, Aleksandar Rajkovic, V. A. Pelligrini, K. Mehta, Lisa A. Martin, Sarah Verbiest, Luca Persani, R. Fair, A. Rajkovic, Nicole Kleinstreuer, Jill Olmstead, X. Jiang, J. Olmstead, N. Kleinstreuer, Vincent A. Pelligrini, Xuezhi Jiang, Peter F. Schnatz, S. Verbiest, Ryan Fair   +45 more
core   +4 more sources

Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +1 more source

Validation of methylation-specific polymerase chain reaction method and evaluation of FMR1 gene pre-mutations in premature ovarian insufficiency [PDF]

مجله پزشکی دانشگاه علوم پزشکی تبریز, 2022
Background. Fragile X-associated premature ovarian insufficiency is clinically defined as a type of early ovarian failure with irregular menstrual cycles, increased follicle-stimulating hormone, premature menopause, and infertility.
Fatemeh Afkhami, Shirin Shahbazi, Laya Farzadi, Masoumeh Azizi   +3 more
doaj   +1 more source

Clinical implications of somatic allele expansion in female FMR1 premutation carriers

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   +1 more source

Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation

Frontiers in Psychiatry, 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 ...
Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Jessica Ezzell Hunter, Katharine E. Shelly, Stephanie L. Sherman   +8 more
doaj   +1 more source