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-Reference-Cited by-同舟云学术

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

Published:2021-03-04 Issue:3 Volume:21 Page:255-267
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Berry-Kravis Elizabeth¹²³,Zhou Lili¹⁴,Jackson Jonathan¹,Tassone Flora⁵⁶

Affiliation:

1. Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA

2. Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA

3. Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA

4. Department of Pathology, Rush University Medical Center, Chicago, IL, USA

5. Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA

6. MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/14737159.2021.1899812

Reference31 articles.

1. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

2. Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families

3. Fragile X-associated disorders: a clinical overview

4. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

5. Fragile X syndrome: Diagnostic and carrier testing

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1. Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome;International Journal of Molecular Sciences;2023-05-24

2. High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes;The Journal of Molecular Diagnostics;2022-03

3. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome;American Journal of Medical Genetics Part A;2021-12-08