Results 11 to 20 of about 3,423 (189)

Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in Genetics, 2018
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood.
Melissa Raspa, Amanda Wylie, Anne C. Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, Stephen W. Porges, Stephen W. Porges   +7 more
doaj   +4 more sources

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Journal of Neurodevelopmental Disorders, 2017
Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with ...
Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone, Jane E. Roberts   +5 more
doaj   +7 more sources

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

PLoS ONE, 2011
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts.
Carolyn M Yrigollen, Federica Tassone, Blythe Durbin-Johnson, Flora Tassone   +3 more
doaj   +4 more sources

Abnormal neural sensitivity to rewards as a candidate process of high depression risk in the FMR1 premutation: A pilot study [PDF]

Journal of Mood and Anxiety Disorders
The etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor.
Roslyn Harold, Bridgette Kelleher, Keisha Novak, Wei Siong Neo, Teagan Stump, Taylor Lee, Tessa Garwood, Elizabeth Berry-Kravis, Dan Foti   +8 more
doaj   +4 more sources

Metabolic Alterations in FMR1 Premutation Carriers [PDF]

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +3 more sources

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +3 more sources

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence

Journal of Neurodevelopmental Disorders, 2017
Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter, Jane E. Roberts   +4 more
doaj   +3 more sources

Associated features in females with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI ...
Greenberg, Jan, Molly Losh, John M Olichney, Wheeler, Anne C, Mailick, Marsha, Bailey Jr, Donald B, Smith, Leann, Summers, Scott, Sherman, Stephanie, Olichney, John M, Losh, Molly, Randi Hagerman, Bailey, Donald B, Jr, Laia Rodriguez-Revenga, Montserrat Milà, Scott Summers, Hagerman, Randi, Stephanie Sherman, Donald B Bailey Jr, Elizabeth Berry-Kravis, Leann Smith, Jin-Chen Yang, Anne C Wheeler, Marsha Mailick, Berry-Kravis, Elizabeth, Rodriguez-Revenga, Laia, Wheeler, Anne, Yang, Jin-Chen, Milà, Montserrat, Jan Greenberg   +29 more
core   +6 more sources

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories
Sideris, John, Flora Tassone, Bailey, Donald B., Hagerman, Randi, Wheeler, Anne C, Tassone, Flora, Elizabeth Berry-Kravis, Anne C. Wheeler, Donald B. Bailey, Berry-Kravis, Elizabeth, John Sideris, Bailey, Donald B, Randi Hagerman, Wheeler, Anne C.   +13 more
core   +6 more sources

Genetics and Mathematics: FMR1 premutation female carriers [PDF]

Neuropsychologia, 2012
Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills.
PRIFTIS, KONSTANTINOS, R. Pignatti, A. M. Laverda, Maria Laverda, Anna, C. Busana, Bonollo, Sabrina, Busana, Cristina, Iuculano, Teresa, Polli, Roberta, MURGIA, ALESSANDRA, R. Polli, S. Bonollo, Pignatti, Riccardo, T. Iuculano, SEMENZA, CARLO   +14 more
core   +4 more sources