Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

Autor: Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

Introduction: Fragile X syndrome (FXS) is a common form of X-linked intellectual and developmental disability with a prevalence of 1/4000–5000 in males and 1/6000–8000 in females. Most cases of the syndrome result from expansion of a premutation

Externí odkaz: https://doaj.org/article/85f39036183544a09bd54f90a3ea85fe

Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System

Autor: Gary J. Latham, Brian C. Haynes, Andrew G. Hadd, Stacey Lee, Charles Redmond, Jon Kemppainen, Scott M. Shone, Jennifer L. Taylor, Donald B. Bailey

Publikováno v: J Mol Diagn

Newborn screening is designed for presymptomatic identification of serious conditions with effective early interventions. Clinical laboratories must perform prospective pilot studies to ensure that the analytical performance and workflow for a given

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e498ea0a18f0f2ab5b8edeb363f1f5f
https://pubmed.ncbi.nlm.nih.gov/31866572

A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome

Autor: Liangjing Chen, Cynthia Pan, Brian L Cannon, Rick Russell, Andrew G. Hadd

Publikováno v: Molecular Biotechnology. 53:19-28

Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. To detect expanded CGG repeats, we developed a dual-mode single-molecule fluorescence assay that allows acqu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82201fe8dbc89b10acdd75ed82ee5ab9
https://doi.org/10.1007/s12033-012-9505-z

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

Autor: Justine Coppinger, Sarah L. Nolin, Andrew G. Hadd, Gary J. Latham

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 5 (2014)

In 1994 it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928360eefc79dc383e666198160fc622
http://europepmc.org/articles/PMC4114290

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis

Autor: Marina Grasso, Elles M. J. Boon, Andrew G. Hadd, Stela Filipovic-Sadic, Ru Cao, Gary J. Latham, Patrick A. van Bunderen, Elena Gennaro, Domenico A. Coviello

Publikováno v: Grasso, M, Boon, E M J, Filipovic-Sadic, S, Van Bunderen, P A, Gennaro, E, Cao, R, Latham, G J, Hadd, A G & Coviello, D A 2014, ' A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis ', Journal of Molecular Diagnostics, vol. 16, no. 1, pp. 23-31 . https://doi.org/10.1016/j.jmoldx.2013.09.004
Journal of Molecular Diagnostics, 16(1), 23-31. Association of Molecular Pathology
The Journal of Molecular Diagnostics, 16(1), 23-31

Fragile X syndrome and associated disorders are characterized by the number of CGG repeats and methylation status of the FMR1 gene for which Southern blot (SB) historically has been required for analysis. This study describes a simple PCR-only workfl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3e9f22e3fdf32a967620bfdd0c30899
https://research.vumc.nl/en/publications/eb1983a9-66f1-4d90-bba7-b64a67f9fc30