Results 121 to 130 of about 3,802 (188)

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

, 2001
Fragile-X syndrome is caused by an unstable CGG trinucleotide repeat in the FMR1 gene at Xq27. Intermediate alleles (51–200 repeats) can undergo expansion to the full mutation on transmission from mother to offspring.
Ginott, Nathan, Hagit Toledano-Alhadef, Ehrlich, Sophie, Lina Basel-Vanagaite, Nathan Ginott, Taub, Ellen, Davidov, Bella, Drasinover, Valerie, Mordechai Shohat, Basel-Vanagaite, Lina, Ellen Taub, Toledano-Alhadef, Hagit, Halpern, Gabrielle J., Nurit Magal, Gabrielle J. Halpern, Magal, Nurit, Sophie Ehrlich, Shohat, Mordechai, Bella Davidov, Valerie Drasinover   +19 more
core   +1 more source

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

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

Predictors and risk model development for menopausal age in fragile X premutation carriers

, 2011
PURPOSE: Women who carry a fragile X mental retardation 1 premutation are at risk for fragile X-associated primary ovarian insufficiency and should be counseled for a potentially reduced fertility.
Braat, D.D.M., Geurts van Kessel, A.H.M., Smits, A.P.T., Allen, E.G., Feuth, A.B., Spath, M.A., Thomas, C.M.G., Yntema, H.G., Sherman, S.L.   +8 more
core  

Data from Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation

, 2013
Raw data from Borthwell, R. M., Hunsaker, M. R., Willemsen, R., & Berman, R. F. (2012). Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation. Behavioural Brain Research, 233(1), 29-34.
Michael Hunsaker (101685)
core   +1 more source

Data from Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation

, 2013
Raw data for Hunsaker, M. R., Goodrich-Hunsaker, N. J., Willemsen, R., & Berman, R. F. (2010). Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behavioral Brain Research, 213(2), 263-268.
Michael Hunsaker (101685)
core   +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

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

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

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