FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
出版年份 2018 全文链接
标题
FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
作者
关键词
-
出版物
Frontiers in Genetics
Volume 9, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2018-11-02
DOI
10.3389/fgene.2018.00442
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Protein synthesis levels are increased in a subset of individuals with fragile X syndrome
- (2018) Sébastien Jacquemont et al. HUMAN MOLECULAR GENETICS
- Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
- (2017) Esther Manor et al. Frontiers in Genetics
- Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
- (2016) Nuno Maia et al. JOURNAL OF HUMAN GENETICS
- Dysregulation and restoration of translational homeostasis in fragile X syndrome
- (2015) Joel D. Richter et al. NATURE REVIEWS NEUROSCIENCE
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
- (2015) Alissa M. D’Gama et al. NEURON
- CGG allele size somatic mosaicism and methylation inFMR1premutation alleles
- (2014) Dalyir I Pretto et al. JOURNAL OF MEDICAL GENETICS
- Clinical and molecular implications of mosaicism in FMR1 full mutations
- (2014) Dalyir Pretto et al. Frontiers in Genetics
- MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
- (2013) Valentina Gatta et al. BMC Medical Genetics
- A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis
- (2013) Marina Grasso et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Intranuclear inclusions in a fragile X mosaic male
- (2013) Dalyir I Pretto et al. Translational Neurodegeneration
- Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles
- (2012) Rachel Adihe Lokanga et al. HUMAN MUTATION
- Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
- (2012) Claudia Bagni et al. JOURNAL OF CLINICAL INVESTIGATION
- The FRAXopathies: Definition, overview, and update
- (2011) Filomena Pirozzi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses
- (2011) Liangjing Chen et al. GENETICS IN MEDICINE
- Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
- (2011) Weerasak Chonchaiya et al. HUMAN GENETICS
- Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome
- (2011) Reinhard Stöger et al. PLoS One
- Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization
- (2010) Lisa Cordeiro et al. Journal of Neurodevelopmental Disorders
- Broad Clinical Involvement in a Family Affected by the Fragile X Premutation
- (2009) Weerasak Chonchaiya et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis
- (2008) Claudia M. Greco et al. ARCHIVES OF NEUROLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started