Results 91 to 100 of about 4,503 (204)

Association between the FMR1 CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis

Artificial Cells, Nanomedicine, and Biotechnology, 2019
Aim Reports on the association of the CGG repeat length in the FMR1 gene with the severity of idiopathic POI are inconclusive. Therefore, a meta analysis was performed to investigate the relationship between the expansion of repeat CGG and idiopathic POI
Jing Huang, Wenxiang Zhang, Yingchun Liu, Ying Liu, Jing Wang, Hong Jiang   +5 more
doaj   +1 more source

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands [PDF]

, 2015
A very high proportion of individuals with fragile X syndrome (FXS) (FMR1 full mutation, > 200 CGG repeats) experience clinically significant anxiety.
Cordeiro, Lisa, Hessl, David, Hagerman, Randi, Abucayan, Floridette, Tassone, Flora   +4 more
core   +1 more source

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity

Molecular Genetics & Genomic Medicine, 2019
Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1
Esther Manor, Raphael Gonen, Benjamin Sarussi, Danielle Keidar‐Friedman, Jay Kumar, Hiu‐Tung Tang, Flora Tassone   +6 more
doaj   +1 more source

Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders

Frontiers in Genetics, 2018
Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic ...
Xiao-Nan Zhao, Karen Usdin
doaj   +1 more source

Altered expression of the FMR1 splicing variants landscape in premutation carriers [PDF]

, 2017
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung, Flora Tassone, AlOlaby, Reem Rafik, Reem Rafik AlOlaby, Tseng, Elizabeth, Luke Hickey, Hiu-Tung Tang, Tassone, Flora, Elizabeth Tseng, Hickey, Luke   +9 more
core   +1 more source

Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers

Journal of Neurodevelopmental Disorders, 2012
Purpose There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism.
Hallahan Brian P, Daly Eileen M, Simmons Andrew, Moore Caroline J, Murphy Kieran C, Murphy Declan D G   +5 more
doaj   +1 more source

Warburg effect linked to cognitive‐executive deficits in FMR1 premutation

, 2016
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian ...
Napoli, Eleonora, Azarang, Atoosa, Giulivi, Cecilia, Song, Gyu, Schneider, Andrea, Hagerman, Randi, Al Azaim Eldeeb, Marwa Abd, Tassone, Flora   +7 more
core   +1 more source

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease

Clinical Interventions in Aging, 2020
Elber Yuksel Aydin, 1, 2 Andrea Schneider, 1, 3 Dragana Protic, 1, 4 Jun Yi Wang, 1, 5 Veronica Martínez-Cerdeño, 1, 6 Flora Tassone, 1, 7 Hiu-Tung Tang, 7 Susan Perlman, 8 Randi J Hagerman 1, 3 1Medical Investigation of Neurodevelopmental
Aydin EY, Schneider A, Protic D, Wang JY, Martínez-Cerdeño V, Tassone F, Tang HT, Perlman S, Hagerman RJ   +8 more
doaj  

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Frontiers in Genetics, 2018
The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability.
Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch   +6 more
doaj   +1 more source

FRAXA premutation associated with premature ovarian failure

, 1996
A family is described in which six females in three generations experienced premature ovarian failure (POF), in three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile ...
Costa, Silvia S., Verreschi, Ieda Therezinha do Nascimento [UNIFESP], Vianna-Morgante, Angela M., Pares, Annunziata Sonia Fusaro da Silva [UNIFESP]   +3 more
core   +1 more source