Results 151 to 160 of about 3,802 (188)

The fragile X premutation: into the phenotypic fold

Current Opinion in Genetics and Development, 2002
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature
Randi J Hagerman, Paul J Hagerman
exaly   +3 more sources

Fragile X premutation and associated health conditions: A review

Clinical Genetics, 2021
Abstract Fragile X syndrome (FXS) is the most common single gene disorder, which causes autism and intellectual disability. The fragile X mental retardation 1 ( FMR1 ) gene is silenced when cytosine‐guanine‐guanine (CGG) triplet repeats exceed 200, which is the full mutation
Nattaporn Tassanakijpanich, Randi J Hagerman   +1 more
exaly   +3 more sources

Neurobehavioral phenotype in carriers of the fragile X premutation

American Journal of Medical Genetics Part A, 2001
There have been contradictory findings in the fragile X (fraX) literature about possible neurocognitive and psychological symptoms due to the fraX premutation (pM). The purpose of the present study was to investigate the relationship between CGG repeat length and neurobehavioral functioning in carriers of the fraX pM. Eighty-five female carriers of the
Stephan Eliez, Jennifer Dyer-Friedman, David Hessl   +2 more
exaly   +3 more sources

Frequency and stability of the fragile X premutation

Human Molecular Genetics, 1994
Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little information available about the ...
A L, Reiss, H H, Kazazian, C M, Krebs, A, McAughan, C D, Boehm, M T, Abrams, D L, Nelson   +6 more
openaire   +2 more sources

Fragile X premutation presenting as essential tremor

Journal of Neurology, Neurosurgery & Psychiatry, 2008
Essential tremor (ET) is one of the most common movement disorders seen in routine neurological practice, but other diseases may mimic this condition. Here we describe a 62-year-old right-handed man with an action (kinetic) tremor fulfilling diagnostic criteria for ET which was the presenting feature of the fragile X associated tremor/ataxia syndrome ...
G, Gorman, S, Fairgrieve, D, Birchall, P F, Chinnery   +3 more
openaire   +2 more sources

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

American Journal of Medical Genetics, Part A, 2010
Contains fulltext : 87444.pdf (Publisher’s version ) (Open Access)Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome ...
Arie P T Smits, Didi D M Braat, Ad Geurts van Kessel   +2 more
exaly   +2 more sources

Arithmetic difficulties in females with the fragile X premutation

American Journal of Medical Genetics Part A, 2006
AbstractFemales with the fragile X full mutation have been reported to have difficulty learning mathematics. Women with the fragile X premutation often give a history of mathematics difficulties in themselves especially with higher level math. In order to evaluate whether women with the premutation have difficulty with math, we asked women with both ...
Ave M, Lachiewicz, Deborah V, Dawson, Gail A, Spiridigliozzi, Allyn, McConkie-Rosell   +3 more
openaire   +2 more sources

Association between idiopathic premature ovarian failure and fragile X premutation

Human Reproduction, 2000
A total of 106 women affected by premature ovarian failure (POF) were evaluated for fragile X (FRAXA) premutation. The POF patients were classified as having a familial condition (33 women), at least one relative with early menopause (12 women), or a ...
Anna Marozzi, Walter Vegetti, Giovanna Testa   +2 more
exaly   +2 more sources

The fragile X premutation presenting as postprandial hypotension

Neurology, 2004
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder consisting of progressive intention tremor and cerebellar ataxia recently described in men with the premutation (55 to 200 CGG repeats) in the promoter region of the fragile X mental retardation 1 ( FMR1 ) gene1 and with grandchildren with fragile X syndrome (FXS).2
Pugliese P, Annesi G, Cutuli N, Arabia G, Nicoletti G, Annesi F, Tarantino P, Gambardella A, Valentino P, Zappia M, Quattrone A   +10 more
openaire   +4 more sources