Results 51 to 60 of about 5,127 (199)

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands [PDF]

, 2015
A very high proportion of individuals with fragile X syndrome (FXS) (FMR1 full mutation, > 200 CGG repeats) experience clinically significant anxiety.
Cordeiro, Lisa, Hessl, David, Hagerman, Randi, Abucayan, Floridette, Tassone, Flora   +4 more
core   +1 more source

Premutation Females with preFXTAS

International Journal of Molecular Sciences
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the ...
Valentina Liani, Carme Torrents, Elisa Rolleri, Nor Azyati Yusoff, Narueporn Likhitweerawong, Sydney Moore, Flora Tassone, Andrea Schneider, Ellery Santos, Hazel M. B. Biag, James A. Bourgeois, Kathryn E. Unruh, Matthew W. Mosconi, Randi J. Hagerman   +13 more
openaire   +4 more sources

Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally-based enumeration task

Frontiers in Human Neuroscience, 2011
The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development.
Naomi Jean Goodrich-Hunsaker, Ling M Wong, Yingratana eMcLennan, Flora eTassone, Flora eTassone, Danielle eHarvey, Susan M Rivera, Susan M Rivera, Susan M Rivera, Tony J Simon, Tony J Simon   +10 more
doaj   +1 more source

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

Conversion disorder in women with the FMR1 premutation [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractWomen with fragile X mental retardation (FMR1) gene premutations (55–200 CGG repeats) were until recently believed to be unaffected. It is now known that up to 8% of older female FMR1 premutation carriers develop fragile X‐associated tremor/ataxia syndrome (FXTAS). Female carriers may also develop primary ovarian insufficiency, thyroid disease,
Andreea L, Seritan, Andrea, Schneider, John M, Olichney, Maureen A, Leehey, R Scott, Akins, Randi J, Hagerman   +5 more
openaire   +2 more sources

BC RNA Mislocalization in the Fragile X Premutation [PDF]

eneuro, 2018
AbstractFragile X premutation disorder is caused by CGG triplet repeat expansions in the 5′ untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2.
Ilham A. Muslimov, Taesun Eom, Anna Iacoangeli, Shih-Chieh Chuang, Renate K. Hukema, Rob Willemsen, Dimitre G. Stefanov, Robert K. S. Wong, Henri Tiedge   +8 more
openaire   +2 more sources

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

PLoS ONE, 2011
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts.
Carolyn M Yrigollen, Federica Tassone, Blythe Durbin-Johnson, Flora Tassone   +3 more
doaj   +1 more source

Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population

Frontiers in Aging Neuroscience, 2023
ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD).
Juan Chen, Juan Chen, Yuwen Zhao, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jinchen Li, Jinchen Li, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Ranhui Duan, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Qiao Yu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu, Zhenhua Liu   +34 more
doaj   +1 more source

Tophaceous gout of the nose in a male FMR1 premutation carrier

Clinical Case Reports, 2022
Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare ...
Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han, Ellery R. Santos, Glenda Espinal, Ramkumar Aishworiya, Andrea Schneider, David Hessl, Susan M. Rivera, Randi J. Hagerman   +10 more
doaj   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, Volume 175, Issue 1, Page 26-47, October 2026.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source