Results 41 to 50 of about 45,899 (203)
Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Frontiers in Genetics, 2023 Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin +7 more
doaj +1 more source
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
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Fragile X syndrome and epilepsy [PDF]
Neuroscience Bulletin, 2008 Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy.
Li-Feng, Qiu +3 more
openaire +2 more sources
Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]
, 2008 Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
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STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]
, 2010 Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
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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
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Langage et communication dans le syndrome du X-Fragile [PDF]
, 2018 Le Syndrome du X-Fragile (SFX) renvoie à une famille de problèmes médicaux et développementaux liés à une réplication de la portion Xq27.3 du chromosome X.
Comblain, Annick
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Aging in fragile X syndrome [PDF]
Journal of Neurodevelopmental Disorders, 2010 Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women ...
Utari, Agustini +12 more
openaire +4 more sources
Heliyon, 2019 Background: Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene (FMR1).
Giuseppe Bonapace +11 more
doaj +1 more source
Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome
, 2017 Recent advances in understanding the pathophysiological mechanisms contributing to fragile X syndrome (FXS) have increased optimism that drug interventions can provide significant therapeutic benefits.
Jope, Richard S, Richard S. Jope
core +1 more source