Results 121 to 130 of about 5,990,156 (184)

Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. [PDF]

Front Psychiatry, 2021
Zafarullah M, Durbin-Johnson B, Fourie ES, Hessl DR, Rivera SM, Tassone F.   +5 more
europepmc   +1 more source

Segregation of the fragile X mutation from an affected male to his normal daughter

, 1992
We report here a family in which the fragile X mutation segregates from an affected grandfather through his normal daughter to an affected grandson.
de Boulle, K., Willems, Patrick J., Vits, L., Jan E. Dumon, Roy, Bernadette Van, Bernadette Van Roy, De Boulle, Kristel, Oostra, Ben, Lieve Vits, Reyniers, E., Olivia Beck, Dumon, Jan E., Edwin Reyniers, Willems, P.J., Patrick J. Willems, Annemieke Verkerk, Verkerk, A., van Roy, B., Kristel De Boulle, Oostra, B., Beck, Olivia, Beck, O., Reyniers, Edwin, Verkerk, Annemieke; id_orcid, Vits, Lieve, Ben Oostra, Dumon, J.E.   +26 more
core   +1 more source

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation. [PDF]

Fertil Steril, 2021
Trevino CE, Rounds JC, Charen K, Shubeck L, Hipp HS, Spencer JB, Johnston HR, Cutler DJ, Zwick ME, Epstein MP, Murray A, Macpherson JN, Mila M, Rodriguez-Revenga L, Berry-Kravis E, Hall DA, Leehey MA, Liu Y, Welt C, Warren ST, Sherman SL, Jin P, Allen EG.   +22 more
europepmc   +1 more source

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

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   +1 more source

[Progressive ataxia and cognitive deficits caused by premutation in the fragile-X-mental retardation gene]

, 2005
Contains fulltext : 48118.pdf (Publisher’s version ) (Open Access)A 75-year-old man had progressive difficulty with walking, intention tremor, ataxia, and mild cognitive deficits. MRI scan ofthe brain showed symmetrical hyperintensities
Nijssen, P.C., Roks, G., Vries, L.B.A. de, Sistermans, E.A.   +3 more
core  

Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material. [PDF]

J Genet Couns, 2020
Smolich L, Charen K, Sherman SL.
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

Study of telomere length in men who carry a fragile X premutation or full mutation allele. [PDF]

Hum Genet, 2020
Albizua I, Chopra P, Allen EG, He W, Amin AS, Sherman SL.   +5 more
europepmc   +1 more source

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation. [PDF]

Neurobiol Dis
Jiraanont P, Wang JY, Durbin-Johnson B, Hwang YH, Hessl D, Rivera SM, Hagerman RJ, Tassone F.   +7 more
europepmc   +1 more source

Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations. [PDF]

Int J Mol Sci
Hasan H, Biag HMB, Santos ER, Randol JL, Ring R, Tassone F, Hagerman PJ, Hagerman RJ.   +7 more
europepmc   +1 more source