Results 111 to 120 of about 5,127 (199)

Case Series of Vestibular Migraine in Fragile X Premutation Carriers [PDF]

This case series plus review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation.
Hagerman, Randi, Tak, YeEun, Tassone, Flora   +2 more
core   +1 more source

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

Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure

, 2003
Objective : To explore the incidence of fragile X premutation in patients with idiopathic premature ovarian failure, particularly in the Korean population. Design : A prospective study.
이병석
core  

Enrichment of an Ehlers-Danlos-like phenotype in women with the <i>FMR1</i> premutation: a pilot study. [PDF]

J Med Genet
Casanova EL, Buchanan CB, Hinzman C, Johnson L, Okenimkpe T, Kellum A, Sheedy T, Gane L, Makhoul E, Hagerman R, Hagerman P.   +10 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   +1 more source

Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation. [PDF]

BMJ Case Rep
Viteri V, Parada MF, Santos ER, Biag HMB, Schneider A, Villarreal J, Trotter JF, Hagerman RJ.   +7 more
europepmc   +1 more source

Aberrant Emotion-Cognition Integration in <i>FMR1</i> Premutation Carriers: A fNIRS Study. [PDF]

eNeuro
Bian Y, Li Y, Zhu Y, Li D, Geng Y, Guan S, Feng D, Li R, Xu Q.   +8 more
europepmc   +1 more source

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

Autonomic Nervous System Function and Sensory Sensitivity in 12-Month-Old Infants with the <i>FMR1</i> Premutation. [PDF]

Int J Mol Sci
Morton A, Arnold H, Hamrick L, Chase A, Cobb S, Roberts J.   +5 more
europepmc   +1 more source

Parental report-based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation. [PDF]

Front Mol Neurosci
Tortora ND, Hunter JE, Glicksman A, McGuire T, Russell-Giller S, Kenepp A, Taveras S, Seehra S, Goldman R, Hinton VJ, Shubeck L, Allen EG, Adayev T.   +12 more
europepmc   +1 more source