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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee. Spector E, et al. Genet Med. 2021 May;23(5):799-812. doi: 10.1038/s41436-021-01115-y. Epub 2021 Apr 1. Genet Med. 2021. PMID: 33795824 Free article.
Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome …
Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are assoc …
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Biancalana V, Glaeser D, McQuaid S, Steinbach P. Biancalana V, et al. Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227148 Free PMC article.
Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over 200 CGG repeats when associated with abnormal methylation and inactivation of …
Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile …
Fragile X-associated tremor/ataxia syndrome: pathophysiology and management.
Hagerman R, Hagerman P. Hagerman R, et al. Curr Opin Neurol. 2021 Aug 1;34(4):541-546. doi: 10.1097/WCO.0000000000000954. Curr Opin Neurol. 2021. PMID: 33990099 Free PMC article. Review.
PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-associated tremor/ataxia syndrome (FXTAS). RECENT FINDINGS: The pathophysiology of FXTAS involves ribonucleic acid (RNA …
PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-asso …
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.
Hagerman RJ, Hagerman P. Hagerman RJ, et al. Nat Rev Neurol. 2016 Jul;12(7):403-12. doi: 10.1038/nrneurol.2016.82. Epub 2016 Jun 24. Nat Rev Neurol. 2016. PMID: 27340021 Review.
Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of th …
Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' un …
Newborn, carrier, and early childhood screening recommendations for fragile X.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Abrams L, et al. Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Pediatrics. 2012. PMID: 23129072 Review.
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance …
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common si …
Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.
Hoyos LR, Thakur M. Hoyos LR, et al. J Assist Reprod Genet. 2017 Mar;34(3):315-323. doi: 10.1007/s10815-016-0854-6. Epub 2016 Dec 19. J Assist Reprod Genet. 2017. PMID: 27995424 Free PMC article. Review.
Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. ...Consequent chronic hypoestrogenism may result in impaired bone health and increased cardiovascular risk. Neuropsychiatric issues include risk of developing f …
Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. ...Consequent chronic h …
A practical guide to the differential diagnosis of tremor.
Alty JE, Kempster PA. Alty JE, et al. Postgrad Med J. 2011 Sep;87(1031):623-9. doi: 10.1136/pgmj.2009.089623. Epub 2011 Jun 20. Postgrad Med J. 2011. PMID: 21690256 Review.
The most common causes of postural tremor are physiological tremor, essential tremor and drug-induced tremor. ...Wilson's disease and fragile X-associated tremor/ataxia syndrome are rarer conditions that may pr …
The most common causes of postural tremor are physiological tremor, essential tremor and drug-induced tremor. .. …
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.
Leehey MA. Leehey MA. J Investig Med. 2009 Dec;57(8):830-6. doi: 10.2310/JIM.0b013e3181af59c4. J Investig Med. 2009. PMID: 19574929 Free PMC article. Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the ear …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CG …
Advances in the treatment of fragile X syndrome.
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Hagerman RJ, et al. Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317. Pediatrics. 2009. PMID: 19117905 Free PMC article. Review.
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficultie …
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and …
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
Hagerman RJ, Hall DA, Coffey S, Leehey M, Bourgeois J, Gould J, Zhang L, Seritan A, Berry-Kravis E, Olichney J, Miller JW, Fong AL, Carpenter R, Bodine C, Gane LW, Rainin E, Hagerman H, Hagerman PJ. Hagerman RJ, et al. Clin Interv Aging. 2008;3(2):251-62. doi: 10.2147/cia.s1794. Clin Interv Aging. 2008. PMID: 18686748 Free PMC article. Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. …
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that af …
22 results