Results 101 to 110 of about 5,990,156 (184)

Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure

, 2003
Objective : To explore the incidence of fragile X premutation in patients with idiopathic premature ovarian failure, particularly in the Korean population. Design : A prospective study.
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core  

Data from Progressive spatial processing deficits in a mouse model of the fragile X premutation.

, 2013
Raw data for Hunsaker, M. R., Wenzel, H. J., Willemsen, R., & Berman, R. F. (2009). Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behavioral Neuroscience. 123(6), 1315-1324.
Michael Hunsaker (101685)
core   +1 more source

Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report [PDF]

Journal of Basic Research in Medical Sciences
Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead.
Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian   +4 more
doaj  

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

Molecular Therapy: Nucleic Acids, 2019
Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55–200 CGG repeat expansion in the 5′ UTR of the FMR1 gene. Two main neurological phenotypes have been described in carriers
Malgorzata Drozd, Sébastien Delhaye, Thomas Maurin, Sara Castagnola, Mauro Grossi, Frédéric Brau, Marielle Jarjat, Rob Willemsen, Maria Capovilla, Renate K. Hukema, Enzo Lalli, Barbara Bardoni   +11 more
doaj   +1 more source

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

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   +1 more source

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.

PLoS ONE, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Milo Careaga, Destanie Rose, Flora Tassone, Robert F Berman, Randi Hagerman, Paul Ashwood   +5 more
doaj   +1 more source

Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment

Tremor and Other Hyperkinetic Movements, 2012
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline.
Deborah A. Hall, Joan A. O'Keefe
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
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RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]

, 2009
Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core   +1 more source

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

Reproductive Biology and Endocrinology
Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI).
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge   +10 more
doaj   +1 more source