Results 1 to 10 of about 2,780 (142)

Cardiovascular Problems in the Fragile X Premutation [PDF]

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +7 more sources

Fragile X Premutation Associated Conditions (FXPAC) [PDF]

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +5 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj   +7 more sources

Prevalence and implications of fragile X premutation screening in Thailand [PDF]

Scientific Reports
The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially ...
Areerat Hnoonual, Sunita Kaewfai, Chanin Limwongse, Pornprot Limprasert   +3 more
doaj   +4 more sources

Clinical and molecular correlates in fragile X premutation females [PDF]

eNeurologicalSci, 2017
The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
Poonnada Jiraanont, Stefan R. Sweha, Reem R. AlOlaby, Marisol Silva, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Glenda M. Espinal, Paul J. Hagerman, Susan M. Rivera, David Hessl, Randi J. Hagerman, Nuanchan Chutabhakdikul, Flora Tassone   +13 more
doaj   +6 more sources

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]

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, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman   +45 more
doaj   +2 more sources

Executive Function and Working Memory Deficits in Females with Fragile X Premutation [PDF]

Life, 2023
The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition.
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis   +3 more
doaj   +2 more sources

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers. [PDF]

Genes (Basel), 2022
Background: The fragile X premutation carrier state (PM) (55–200 CGG repeats in the fragile X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia (FXTAS), with current literature largely primarily investigating older ...
Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R.   +5 more
europepmc   +5 more sources

Aging in Fragile X Premutation Carriers. [PDF]

Cerebellum, 2016
It is now recognized that FMR1 premutation carriers (PC) are at risk to develop a range of neurological, psychiatric, and immune-mediated disorders during adulthood. There are conflicting findings regarding the incidence of hypertension, hypothyroidism, diabetes, and cancer in these patients that warrant further study.
Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, Tassone F, Beckett L, Hagerman R.   +8 more
europepmc   +7 more sources

Fragile x premutation. [PDF]

J Neurodev Disord, 2014
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult ...
Tassone F, Hagerman PJ, Hagerman RJ.
europepmc   +6 more sources