Cargando…

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

BACKGROUND: Epigenetic modifications of the fragile X mental retardation 1 (FMR1) gene locus may impact the risk for reproductive and neurological disorders associated with expanded trinucleotide repeats and methylation status in the 5′ untranslated region. FMR1 methylation is commonly assessed by S...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hadd, Andrew G., Filipovic-Sadic, Stela, Zhou, Lili, Williams, Arianna, Latham, Gary J., Berry-Kravis, Elizabeth, Hall, Deborah A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131543/ https://www.ncbi.nlm.nih.gov/pubmed/27980694 http://dx.doi.org/10.1186/s13148-016-0280-8

Ejemplares similares

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome
por: Mailick, Marsha R., et al.
Publicado: (2018)

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
por: Hall, Deborah A., et al.
Publicado: (2016)

Developmental profiles of infants with an FMR1 premutation
por: Wheeler, Anne C., et al.
Publicado: (2016)

Clinical implications of somatic allele expansion in female FMR1 premutation carriers
por: Aishworiya, Ramkumar, et al.
Publicado: (2023)

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
por: Nolin, Sarah L., et al.
Publicado: (2019)

Metabolic Alterations in FMR1 Premutation Carriers
por: Cao, Yiqu, et al.
Publicado: (2020)

A Unique Visual Attention Profile Associated With the FMR1 Premutation
por: Winston, Molly, et al.
Publicado: (2021)

Associated features in females with an FMR1 premutation
por: Wheeler, Anne C, et al.
Publicado: (2014)

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample
por: Movaghar, Arezoo, et al.
Publicado: (2019)

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation
por: Grigsby, Jim, et al.
Publicado: (2014)

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers
por: Domniz, Noam, et al.
Publicado: (2018)

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
por: Protic, Dragana, et al.
Publicado: (2023)

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles
por: Yrigollen, Carolyn M., et al.
Publicado: (2011)

Sensorimotor and inhibitory control in aging FMR1 premutation carriers
por: Fielding-Gebhardt, Heather, et al.
Publicado: (2023)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
por: Giulivi, Cecilia, et al.
Publicado: (2016)

Age-related functional brain changes in FMR1 premutation carriers
por: Brown, Stephanie S.G., et al.
Publicado: (2017)

Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers
por: McKinney, Walker S., et al.
Publicado: (2019)

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms
por: Dijkstra, Anke A, et al.
Publicado: (2021)

Tophaceous gout of the nose in a male FMR1 premutation carrier
por: Tang, Si Jie, et al.
Publicado: (2022)

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
por: Yrigollen, Carolyn M, et al.
Publicado: (2014)

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy
por: Paucar, Martin, et al.
Publicado: (2018)

The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities
por: Maltman, Nell, et al.
Publicado: (2021)

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
por: Budimirovic, Dejan B., et al.
Publicado: (2020)

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles(†)
por: Tassone, Flora, et al.
Publicado: (2011)

Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
por: Martins, Aline Aparecida Silva, et al.
Publicado: (2022)

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10
por: Marek, Diana, et al.
Publicado: (2012)

Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health
por: Campbell, Sonya, et al.
Publicado: (2016)

Tremor-Ataxia syndrome and primary ovarian insufficiency in anFMR1 premutation carrier
por: Saldarriaga-Gil, Wilmar, et al.
Publicado: (2017)

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers
por: Wang, Zheng, et al.
Publicado: (2020)

Sensory Difficulties in Children With an FMR1 Premutation
por: Raspa, Melissa, et al.
Publicado: (2018)

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles
por: Kraan, C. M., et al.
Publicado: (2016)

Elevated Levels of FMR1 mRNA in Granulosa Cells Are Associated with Low Ovarian Reserve in FMR1 Premutation Carriers
por: Elizur, Shai E., et al.
Publicado: (2014)

A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS
por: Narcisa, Vivien, et al.
Publicado: (2011)

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia
por: Famula, Jessica L., et al.
Publicado: (2018)

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing
por: Owens, Kailey M., et al.
Publicado: (2018)

Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation
por: Nayar, Kritika, et al.
Publicado: (2019)

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
por: Field, Michael, et al.
Publicado: (2019)

Male Carriers of the FMR1 Premutation Show Altered Hippocampal-Prefrontal Function During Memory Encoding
por: Wang, John M., et al.
Publicado: (2012)

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation
por: Hocking, Darren R., et al.
Publicado: (2019)

Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers
por: McKinney, Walker S., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_9g2nj8u5an284dgcas4lapnchp