Results 61 to 70 of about 5,127 (199)

Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT Patient advocacy organizations (PAOs) and genetic counseling have expanded in tandem with the growth of precision medicine. Genetic counseling and PAOs share important goals related to advancing genomic medicine, creating novel possibilities for synergistic collaboration, especially as the sheer number of PAOs focused on genetic conditions ...
Marin Kalista, Lisa Jay Kessler, Deborah Requesens, Kathleen D. Valverde, Rebecca Mueller   +4 more
wiley   +1 more source

Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation

Frontiers in Psychiatry, 2021
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Jessica Ezzell Hunter, Katharine E. Shelly, Stephanie L. Sherman   +8 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Amygdala dysfunction in men with the fragile X premutation [PDF]

Brain, 2007
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
David, Hessl, Susan, Rivera, Kami, Koldewyn, Lisa, Cordeiro, John, Adams, Flora, Tassone, Paul J, Hagerman, Randi J, Hagerman   +7 more
openaire   +2 more sources

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Reproductive and Developmental Medicine, 2017
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen, Qi-Qi Wang, Bao-Zhu Cai, Xiao-Jun Ren, Feng Zhang, Xiao-Jin Zhang   +5 more
doaj   +1 more source

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

FRAXA premutation associated with premature ovarian failure

, 1996
A family is described in which six females in three generations experienced premature ovarian failure (POF), in three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile ...
Costa, Silvia S., Verreschi, Ieda Therezinha do Nascimento [UNIFESP], Vianna-Morgante, Angela M., Pares, Annunziata Sonia Fusaro da Silva [UNIFESP]   +3 more
core   +1 more source

Fragile X Premutation With Atypical Symptoms at Onset [PDF]

Archives of Neurology, 2006
To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes.Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal
CELLINI, ELENA, FORLEO P, GINESTRONI, ANDREA, NACMIAS, BENEDETTA, TEDDE, ANDREA, BAGNOLI, SILVIA, MASCALCHI, MARIO, SORBI, SANDRO, PIACENTINI, SILVIA   +8 more
openaire   +3 more sources

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females.
Grigsby, J., Cornish, K., Hocking, D., Kraan, C., Olichney, J. M., Rivera, S. M., Schneider, A., Sherman, S., Wang, J. Y., Yang, J. -C.   +9 more
openaire   +4 more sources

Startle Response in Women with the FMR1 Premutation and Risk for Anxiety Disorders [PDF]

, 2020
Background: The FMR1 premutation, which occurs when there is an expansion of 55 -200 repeats of the CGG trinucleotide on the FMR1 gene, is associated with an increased risk for anxiety disorders.
Lateef, Azalfa
core   +1 more source