Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.

Autor: Kyoungmi Kim, David Hessl, Jamie L Randol, Glenda M Espinal, Andrea Schneider, Dragana Protic, Elber Yuksel Aydin, Randi J Hagerman, Paul J Hagerman

Publikováno v: PLoS ONE, Vol 14, Iss 12, p e0226811 (2019)

Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation

Externí odkaz: https://doaj.org/article/88403f12a97d496289443843e234925b

Multicentric validation of a prognostic tool for predicting brain death following out-of-hospital cardiac arrest in children

Autor: Matthew Henry, Stephanie L. Filipp, Elber Yuksel Aydin, Nicolas Chiriboga, Kailea Zelinka, Lorena Espinosa Smith, Matthew J. Gurka, Jose Irazuzta, Yudy Fonseca, Meredith C. Winter, Charlene Pringle

Publikováno v: Resuscitation. 185:109727

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbfbaabaaa7c2ae50aa593fdfb8aac4d
https://doi.org/10.1016/j.resuscitation.2023.109727

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases

Autor: Maria M. Tan, Randi J Hagerman, Elber Yuksel Aydin, Dragana Protic, Flora Tassone, Andrea Schneider

Publikováno v: Molecular genetics & genomic medicine, vol 7, iss 7
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

Author(s): Protic, Dragana; Aydin, Elber Y; Tassone, Flora; Tan, Maria M; Hagerman, Randi J; Schneider, Andrea | Abstract: BackgroundThe majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04768693f0c0096322c29a0e16e91ff
https://escholarship.org/uc/item/0ck2c53h