Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations-Reference-Cited by-同舟云学术

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Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

Published:2009-07 Issue:4 Volume:11 Page:306-310
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Fernandez-Carvajal Isabel,Lopez Posadas Blanca,Pan Ruiqin,Raske Christopher,Hagerman Paul J.,Tassone Flora

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference26 articles.

1. The fragile X premutation: into the phenotypic fold;Hagerman;Curr Opin Genet Dev,2002

2. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome;Oberle;Science,1991

3. Absence of expression of the FMR-1 gene in fragile X syndrome;Pieretti;Cell,1991

4. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome;Verkerk;Cell,1991

5. Fragile X Syndrome: Diagnosis, Treatment, and Research,2002

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1. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications;Nature Reviews Genetics;2024-03-11

2. Epigenetic causes of intellectual disability—the fragile X syndrome paradigm;Neuropsychiatric Disorders and Epigenetics;2024

3. FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center;Gazi Medical Journal;2022-10-01

4. Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?;International Journal of Molecular Sciences;2022-05-12

5. Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder;BioMed Research International;2021-12-08

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