Results 111 to 120 of about 4,503 (204)

Frequency and stability of the myotonic dystrophy type 1 premutation

, 2001
Background: Myotonic dystrophy type 1 (DM1) is associated with the expansion of an unstable CTG repeat. Larger alleles are associated with a more severe form of the disease and almost always increase in length from one generation to the next, accounting ...
Martorell, L., Monckton, D.G., de Munain, A.L., Sanchez, A., Baiget, M.   +4 more
core  

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

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   +1 more source

Functional motor control deficits in older FMR1 premutation carriers.

, 2019
Individuals with fragile X mental retardation 1 (FMR1) gene premutations are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Christou, Evangelos A, McKinney, Walker, Khemani, Pravin, Wang, Zheng, Lui, Su, Mosconi, Matthew W, Park, Seoung Hoon   +6 more
core  

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women. [PDF]

Hum Reprod
Morbey EJ, Day FR, Wright DJ, Murzynowski JRA, McGlacken-Byrne SM, Murray A, Ong KK, Perry JRB.   +7 more
europepmc   +1 more source

Essential tremor-like phenotype in Fragile X carrier women. [PDF]

Clin Park Relat Disord
Hall DA, Loesch D, Svymbersky T, Berry-Kravis E, Ouyang B.   +4 more
europepmc   +1 more source

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan. [PDF]

BMC Genom Data
Chen L, Zhang X, Song Y, Chen L, He Y, Li Y, Cai Y, Shi Q.   +7 more
europepmc   +1 more source

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

Front Neurol
Bourgeois JA, Schneider A, Klusek J, Christensen TR, Levin E, Gardner K, Jacobi AA, Hagerman RJ.   +7 more
europepmc   +1 more source

Associations Between Rate Of Speech And Cardiac Arousal Within Females That Express The Fmr1 Premutation

, 2016
The focus of this research is on women who have the FMR1 gene premutation. Those with the premutation are “carriers” of the fragile X mutation. The FMR1 premutation is highly prevalent within the United States, affecting 1 in every 151 women.
Harris, Emma
core  

Population-scale repeat expansions elucidate disease risk and brain atrophy. [PDF]

Nature
Pounraja VK, Sul JH, Herman J, O'Keeffe S, Rajagopal V, Bai X, Kessler MD, Parikshak N, Landheer K, Zhang X, Yu S, Zhang L, LeBlanc MG, Rico-Varela J, Grau F, Wolf S, Sundaramoorthy S, Sepehrband F, Stahl EA, Huo Y, Ahmed M, Croll S, GHS-RGC DiscovEHR Collaboration, Mayo-RGC Project Generation, Penn Medicine BioBank, Salerno W, Overton JD, Marchini J, Reid J, Lotta LA, Baras A, Regeneron Genetics Center, Abecasis GR, Coppola G, Gelfman S.   +34 more
europepmc   +1 more source

Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives.

, 2001
Fragile X premutations are known to be a risk factor for diminished ovarian function at a relatively young age. We studied endocrine profiles of female fragile X family members (n = 79) at risk of premature ovarian failure (POF).
Braat, D.D.M., Kiemeney, L.A.L.M., Hundscheid, R.D., Smits, A.P.T., Thomas, C.M.G.   +4 more
core