Results 51 to 60 of about 8,344 (152)

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

Neurobiology of Disease, 2011
Carriers of FMR1 premutation alleles have 55–200 CGG repeats in the 5′ untranslated region of the gene. These individuals are at risk for fragile X associated primary ovarian insufficiency (females) and, in late life, fragile X associated tremor and ...
Mei Qin, Ali Entezam, Karen Usdin, Tianjian Huang, Zhong-Hua Liu, Gloria E. Hoffman, Carolyn B. Smith   +6 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +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

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms [PDF]

, 2021
CGG repeat expansions within the premutation range (55-200) of the FMR1 gene can lead to Fragile X-associated tremor/ataxia syndrome and Fragile X-associated neuropsychiatric disorders. These CGG repeats are translated into a toxic polyglycine-containing
Rozemuller, Annemieke, Verwey, Niek A., Haify, Saif, Prins, Niels, den Dunnen, Wilfred F A; id_orcid, Haify, Saif N, Hoozemans, Jeroen, Prins, Niels D, Hukema, Renate K, van der Toorn, Esmay C, Hoozemans, Jeroen J M, Dijkstra, Anke, Dijkstra, Anke A., Rozemuller, Annemieke J M, Haify, S.N.N. (Saif), Hukema, Renate, den Dunnen, Wilfred, Todd, Peter K., Verwey, Niek A, van Der Toorn, Esmay, Prins, Niels D., Charlet-Berguerand, Nicolas, Hoozemans, JJM, Hukema, RK (Renate), Todd, Peter, Verwey, Niek, Rozemuller, Annemieke J.M., van der Toorn, E.C. (Esmay), Willemsen, R. (Rob), Bugiani, Marianna, Todd, Peter K, Willemsen, Rob, den Dunnen, Wilfred F.A., Charlet-Berguerand, N. (Nicholas), Dijkstra, Anke A, Dijkstra, A. (Anke), Charlet-Berguerand, N. (Nicolas), Marianna Bugiani, Renate K Hukema, Wilfred F A den Dunnen, Nicolas Charlet-Berguerand, van der Toorn, Esmay C., den Dunnen, Wilfred F. A., Bugiani, M. (Marianna), Anke A Dijkstra, Jeroen J M Hoozemans, Prins, Nield D., Peter K Todd, Haify, Saif N., Rob Willemsen, Niels D Prins, Annemieke J M Rozemuller, Rozemuller, Annemieke J. M., Hukema, Renate K., Esmay C van der Toorn, Hoozemans, Jeroen J. M., Saif N Haify, Niek A Verwey   +57 more
core   +1 more source

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Behavioral and Brain Functions, 2011
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene.
Coutinho Paula, Pinto-Basto Jorge, Fortuna Ana M, Alonso Isabel, Santos Rosário, Marques Isabel, Jorge Paula, Vale José, Seixas Ana I, Margolis Russell L, Sequeiros Jorge, Silveira Isabel   +11 more
doaj   +1 more source

Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
The third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Yan Li, Fei Hou, Shan Shan, Yingying Peng, Hua Jin   +4 more
wiley   +1 more source

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene.
Noctor, SC, Cerdeno, VM, Porras, EN, Prakash, AN, Berman, RF, Angelastro, JM, Cunningham, CL, Willemsen, Rob, Hagerman, PJ, Pessah, IN   +9 more
core   +1 more source

Additional file 2 of FMRpolyG accumulates in FMR1 premutation granulosa cells

, 2020
Additional file 2S. AMH expression in cultured mural granulosa cells. Immunostaining of mural granulosa cells demonstrated AMH expression in both FMR1 premutation carrier (FMR PM) as non-carrier (CTL).
H. Raanani (8498406), O. Dratviman-Storobinsky (8498400), R. Orvieto (8498409), M. Friedman-Gohas (8498394), S. Elizur (8498397), Y. Cohen (2254525), J. Haas (7015940), A. Aizer (8498403)   +7 more
core   +1 more source

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 9, Page 945-961, September 2026.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source