Results 151 to 160 of about 5,127 (199)

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female <i>FMR1</i> Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). [PDF]

Genes (Basel)
McGatlin K, Shafer RL, Unruh KE, Stevens CJ, Peterson SG, Dubinsky RM, Lee AP, Tassone F, Hagerman RJ, Bailey H, Mosconi MW.   +10 more
europepmc   +1 more source

Bringing fragile X-associated neuropsychiatric disorders into the phenotypic fold of premutation conditions. [PDF]

Brain
Hagerman R.
europepmc   +1 more source

Neurodevelopmental origins of age-related neurodegenerative diseases. [PDF]

EBioMedicine
Chow KH, Abel T.
europepmc   +1 more source

Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Guha S, Rajan-Babu IS, Kesari A, Garg S, Rose NC, Seifert BA, Reddi HV, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.   +7 more
europepmc   +1 more source

Insight and Recommendations for Fragile X-Premutation-Associated Conditions From the Fifth International Conference on FMR1 Premutation

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Randi J. Hagerman, Peng Jin, Dejan B Budimirovic   +2 more
exaly   +3 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

Phenobarbital Use and Neurological Problems in FMR1 Premutation Carriers [PDF]

NeuroToxicology, 2016
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats)
Randi J. Hagerman, Pamela Lein, Wilmar Saldarriaga   +2 more
exaly   +2 more sources

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The FMR1 premutation and reproduction

Fertility and Sterility, 2007
To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk
Michael D, Wittenberger, Randi J, Hagerman, Stephanie L, Sherman, Allyn, McConkie-Rosell, Corrine K, Welt, Robert W, Rebar, Emily C, Corrigan, Joe Leigh, Simpson, Lawrence M, Nelson   +8 more
openaire   +2 more sources

Identification of small FRAXA premutations

Molecular Diagnosis, 2000
Diagnosis of fragile X syndrome in mentally retarded individuals is satisfactorily achieved using a Southern blot test that detects the typical triplet repeat expansion (>200 repeats) within the FMR1 gene. All such individuals inherit the mutation from a carrier, who usually shows a lower triplet repeat number and may be asymptomatic. Having identified
Francis, D., Burgess, T., Mitchell, Robert John., Slater, H.   +3 more
openaire   +2 more sources