Results 61 to 70 of about 185 (76)

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand. [PDF]

Int J Mol Sci
Hnoonual A, Plong-On O, Tangviriyapaiboon D, Charalsawadi C, Limprasert P.   +4 more
europepmc   +1 more source

In Utero Alcohol and Unsuitable Home Environmental Exposure Combined with FMR1 Full Mutation Allele Cause Severe Fragile X Syndrome Phenotypes. [PDF]

Int J Mol Sci
Winarni TI, Aishworiya R, Culpepper H, Zafarullah M, Mendoza G, Wilaisakditipakorn TJ, Likhitweerawong N, Law J, Hagerman R, Tassone F.   +9 more
europepmc   +1 more source

Bringing FXAND into the phenotypic fold of premutation conditions

openaire   +1 more source

Neuropathology of Fragile-X associated neuropsychiatric disorders (FXAND)

Neuropathology and Applied Neurobiology, 2020
Dijkstra, A. A., Haify, S., Verwey, N. A., Prins, N. D., Severijnen, L. W., Rozemuller, A. J. M., den Dunnen, W. F. A., Willemsen, R., Hukema, R. K., Hoozemans, J. J. M.   +9 more
core   +6 more sources

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
Flora Tassone, Dragana Protic, Alison D Archibald   +2 more
exaly   +3 more sources

Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

International Journal of Molecular Sciences, 2021
Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic
Luis M Valor, Irati Hervás-Corpión, Valor Luis M   +2 more
exaly   +2 more sources

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Chapter Six. ONCE MORE, WITH FEELINGS: FRAGILE X– ASSOCIATED NEUROPSYCHIATRIC DISORDERS (FXAND)

2022
exaly   +2 more sources

5.22 High Frequency of Neuropsychiatric Disorders and a Need for Treatment in Patients with FXAND Linked to FMR1 Gene Premutation Carriers

Journal of the American Academy of Child & Adolescent Psychiatry, 2023
openaire   +1 more source

A Systematic Review of Fragile X–Associated Neuropsychiatric Disorders

Journal of Neuropsychiatry and Clinical Neurosciences, 2023
Joshua Flavell, Catherine Franklin, Peter J Nestor   +2 more
exaly