Results 101 to 110 of about 8,344 (152)

Clinical implications of somatic allele expansion in female FMR1 premutation carriers. [PDF]

Sci Rep, 2023
Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, Hagerman R, Tassone F.   +7 more
europepmc   +1 more source

Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS). [PDF]

Cells, 2023
Santos E, Clark C, Biag HMB, Tang SJ, Kim K, Ponzini MD, Schneider A, Giulivi C, Montanaro FAM, Gipe JT, Dayton J, Randol JL, Yao PJ, Manolopoulos A, Kapogiannis D, Hwang YH, Hagerman P, Hagerman R, Tassone F.   +18 more
europepmc   +1 more source

The association between a carrier state of FMR1 premutation and numeric sex chromosome variations. [PDF]

J Assist Reprod Genet, 2023
Malcov M, Blickstein O, Brabbing-Goldstein D, Reches A, Kalma Y, Fouks Y, Azem F, Cohen Y.   +7 more
europepmc   +1 more source

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. [PDF]

Cells, 2023
Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F.   +9 more
europepmc   +1 more source

Men with an FMR1 premutation and their health education needs. [PDF]

J Genet Couns, 2021
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, Sherman SL.   +6 more
europepmc   +1 more source

Dystonic Head Tremor as a Presenting Feature of FMR1 Premutation: A Case Report. [PDF]

Ann Indian Acad Neurol
Mustafa F, Garg D, Agarwal A, Garg A, Srivastava AK.   +4 more
europepmc   +1 more source

The FMR1 Premutation Phenotype and Mother-Youth Synchrony in Fragile X Syndrome. [PDF]

Am J Intellect Dev Disabil, 2021
Moser C, Mattie L, Abbeduto L, Klusek J.
europepmc   +1 more source

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS. [PDF]

Cerebellum
Berglund S, Hashim F, Laffita-Mesa J, Malmgren H, Anderlid BM, Granberg T, Sjöström H, Svenningsson P, Paucar M.   +8 more
europepmc   +1 more source

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. [PDF]

Sci Rep, 2022
Hwang YH, Hayward BE, Zafarullah M, Kumar J, Durbin Johnson B, Holmans P, Usdin K, Tassone F.   +7 more
europepmc   +1 more source

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