An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene-Reference-Cited by-同舟云学术

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An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

Published:2005-11 Issue:5 Volume:7 Page:605-612
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Saluto Alessandro,Brussino Alessandro,Tassone Flora,Arduino Carlo,Cagnoli Claudia,Pappi Patrizia,Hagerman Paul,Migone Nicola,Brusco Alfredo

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference21 articles.

1. 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

2. Fragile X-associated tremor/ataxia syndrome (FXTAS);Hagerman;Ment Retard Dev Disabil Res Rev,2004

3. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study—preliminary data;Allingham-Hawkins;Am J Med Genet,1999

4. Premature ovarian failure and the FMR1 gene;Murray;Semin Reprod Med,2000

5. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers;Murray;Am J Hum Genet,2000

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1. A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree;BMC Medical Genomics;2023-05-23

2. Neurological, Psychiatric, and Multisystemic Involvement of Fragile X Syndrome Along With Its Pathophysiology, Methods of Screening, and Current Treatment Modalities;Cureus;2023-02-26

3. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome;American Journal of Medical Genetics Part A;2022-11-08

4. Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture;Frontiers in Genetics;2021-09-27

5. Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders;Expert Review of Molecular Diagnostics;2021-03-04

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