Results 91 to 100 of about 5,990,156 (184)

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy

Frontiers in Genetics, 2018
Dual pathology in fragile X mental retardation 1 (FMR1) premutation carriers and fragile X–associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon.
Martin Paucar, Inger Nennesmo, Per Svenningsson   +2 more
doaj   +1 more source

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation

, 2017
The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5′-untranslated region of the fragile X mental retardation 1 gene (FMR1).
Martínez, Raquel, Conde Medina, Silvia, Lama, María José, Palomar, F. J., Carrillo, Fátima, Mir, Pablo, Pintado, Elisabeth   +6 more
core   +1 more source

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

, 2018
Objective: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation ...
Simsek-Kiper, Pelin Ozlem, Boduroglu, Koray, Urel-Demir, Gizem, Tuncbilek, ERGÜL, Akgun-Dogan, Ozlem, ALİKAŞİFOĞLU, MEHMET, ÜTİNE, GÜLEN EDA, Alanay, YASEMİN, AKTAŞ, Dilek   +8 more
core   +1 more source

premutation alleles [PDF]

, 2014
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier
R. Lozano, Lozano, R, Schneider, A, F. Tassone, A. Schneider, R.J. Hagerman, Hagerman, RJ, Hessl, D, Basuta, K, C.M. Yrigollen, Yrigollen, CM, D. Hessl, Tassone, F, K. Basuta   +13 more
core   +1 more source

Data from Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation

, 2013
Raw data from Borthwell, R. M., Hunsaker, M. R., Willemsen, R., & Berman, R. F. (2012). Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation. Behavioural Brain Research, 233(1), 29-34.
Michael Hunsaker (101685)
core   +1 more source

Knowledge and perceptions about Fragile X syndrome and Fragile X premutation-associated conditions among doctors in Nigeria

This is the dataset for research on the Knowledge and perceptions about Fragile X syndrome and Fragile X premutation-associated conditions among doctors in Nigeria.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
mbachu, C (via Mendeley Data)
core   +2 more sources

Data from Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation

, 2013
Raw data for Hunsaker, M. R., Goodrich-Hunsaker, N. J., Willemsen, R., & Berman, R. F. (2010). Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behavioral Brain Research, 213(2), 263-268.
Michael Hunsaker (101685)
core   +1 more source

Table_1_Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.DOCX

, 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 (11568478), Laia Rodriguez-Revenga (11105337), Conxita Caro-Benito (11568484), Maria Isabel Alvarez-Mora (11568481)   +3 more
core   +1 more source

The FMR1 premutation as a cause of premature ovarian failure in Brazilian women

Genetics and Molecular Biology, 2006
The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and
Silvia S. Costa, Angela M. da Fonseca, Vicente R. Bagnoli, Angela M. Vianna-Morgante   +3 more
doaj   +1 more source

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

Neurobiology of Disease, 2014
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1).
Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill   +7 more
doaj   +1 more source