Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
Authors
Keywords
-
Journal
Frontiers in Genetics
Volume 9, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2018-05-16
DOI
10.3389/fgene.2018.00150
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
- (2018) Simon Ardui et al. NUCLEIC ACIDS RESEARCH
- Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing
- (2017) Simon Ardui et al. HUMAN MUTATION
- Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos
- (2017) Eftychia Dimitriadou et al. HUMAN REPRODUCTION
- Improved Assays for AGG Interruptions in Fragile X Premutation Carriers
- (2017) Bruce E. Hayward et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
- (2015) Masoud Zamani Esteki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fragile X-associated tremor/ataxia syndrome
- (2015) Paul J. Hagerman et al. Annals of the New York Academy of Sciences
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
- (2014) Valérie Biancalana et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers
- (2014) Sarah L. Nolin et al. GENETICS IN MEDICINE
- Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
- (2014) Senthilkumar A. Natesan et al. GENETICS IN MEDICINE
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
- (2014) Carolyn M Yrigollen et al. Journal of Neurodevelopmental Disorders
- Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
- (2013) Sarah L. Nolin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
- (2012) Y Liu et al. CLINICAL GENETICS
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
- (2012) Carolyn M. Yrigollen et al. GENETICS IN MEDICINE
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
- (2012) E. W. Loomis et al. GENOME RESEARCH
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
- (2012) Flora Tassone et al. Genome Medicine
- Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers
- (2011) Deborah Hall et al. MOVEMENT DISORDERS
- An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis
- (2010) Liangjing Chen et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A flexible and efficient template format for circular consensus sequencing and SNP detection
- (2010) K. J. Travers et al. NUCLEIC ACIDS RESEARCH
- Prevalence and Instability of Fragile X Alleles
- (2010) Amy Cronister et al. OBSTETRICS AND GYNECOLOGY
- Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
- (2009) DZ Loesch et al. CLINICAL GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk 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