Results 21 to 30 of about 3,423 (189)

Fibroblast phenotype in male carriers of FMR1 premutation alleles [PDF]

Human Molecular Genetics, 2010
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Iwahashi, C, Berry-Kravis, EM, Campos, L, Ludwig, A, Sumis, AM, Zhou, LL, Yang, JE, Goetz, CG, Hagerman, RJ, Nguyen, DV, Brouwer, JR (Jaap), Hagerman, PJ, Greco, C, Tassone, F, Howell, E, Willemsen, Rob, Garcia-Arocena, D   +16 more
core   +4 more sources

Phenobarbital use and neurological problems in FMR1 premutation carriers [PDF]

NeuroToxicology, 2016
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats)
Girirajan, Santhosh, Isaza, Carolina, Teshima, Laura Yuriko González, Hagerman, Randi, Saldarriaga, Wilmar, Lein, Pamela, Silva, Marisol, Rosa, Lina, Polyak, Andrew, Tassone, Flora   +9 more
core   +5 more sources

Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.

PLoS ONE, 2014
AimTo assess the role of mRNA accumulation in granulosa cells as the cause of low ovarian response among FMR1 premutation carriers undergoing pre-implantation genetic diagnosis (PGD).DesignCase control study in an academic IVF unit.
Shai E Elizur, Oshrit Lebovitz, Sanaz Derech-Haim, Olga Dratviman-Storobinsky, Baruch Feldman, Jehoshua Dor, Raoul Orvieto, Yoram Cohen   +7 more
doaj   +2 more sources

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

Frontiers in Genetics, 2018
The FMR1 premutation is of increasing interest to the FXS community, as questions about a primary premutation phenotype warrant research attention. 100 FMR1 premutation carrier mothers (mean age = 58; 67–138 CGG repeats) of adults with fragile X syndrome
Marsha R. Mailick, Arezoo Movaghar, Arezoo Movaghar, Jinkuk Hong, Jan S. Greenberg, Leann S. DaWalt, Lili Zhou, Lili Zhou, Jonathan Jackson, Paul J. Rathouz, Paul J. Rathouz, Mei W. Baker, Mei W. Baker, Murray Brilliant, Murray Brilliant, David Page, Elizabeth Berry-Kravis, Elizabeth Berry-Kravis   +17 more
doaj   +3 more sources

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families [PDF]

Pediatrics, 2017
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may ...
Riley, Catharine, Catharine Riley, Anne Wheeler, Marsha Mailick, Melissa Raspa, Hagerman, Randi, Raspa, Melissa, Wheeler, Anne, Randi Hagerman, Mailick, Marsha   +9 more
core   +6 more sources

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation [PDF]

Scientific Reports
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome.
Nell Maltman, Audra Sterling, Ellery Santos, Randi Hagerman   +3 more
doaj   +2 more sources

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Gene, 2013
peer reviewedFibromyalgia is a chronic condition characterized by widespread pain, fatigue, non-restorative sleep and cognitive difficulties that affects 2-4% of the general population.
Blanch-Rubio, Josep, Elurbe, Dei M., Madrigal, Irene, Docampo Martinez, Elisa, Carbonell, Jordi, Rodriguez-Revenga, Laia, Collado, Antonio, Vidal, Javier, Estivill, Xavier, Mila, Montserrat   +9 more
core   +3 more sources

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort [PDF]

Movement Disorders, 2021
Marsha R Mailick, Jinkuk Hong, Arezoo Movaghar   +2 more
exaly   +2 more sources

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Language dysfluencies in females with the FMR1 premutation [PDF]

Brain and Cognition, 2013
Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group ...
Audra M, Sterling, Marsha, Mailick, Jan, Greenberg, Steven F, Warren, Nancy, Brady   +4 more
openaire   +2 more sources