Results 91 to 100 of about 3,802 (188)
Taiwanese Journal of Obstetrics & Gynecology, 2006 Objective: The fragile X syndrome is the most common form of familial mental retardation. Most males with the FMR1 full mutation function in the mentally retarded range of intelligence.
Yu-Shiou Lin, Man-Li Yang
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Estudo clínico, citogenético e molecular da síndrome do X frágil. [PDF]
, 1999 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Lora, Fabiana Ligia
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Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
, 2003 The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers with premutation alleles.
Glicksman, Anne +20 more
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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 +4 more
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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 +7 more
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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 +2 more
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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 +3 more
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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.
이병석
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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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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 SciencesFragile 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 +4 more
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