Validation of a robust PCR-based assay for quantifying fragile X CGG repeats-Reference-Cited by-同舟云学术

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Validation of a robust PCR-based assay for quantifying fragile X CGG repeats

Published:2016-05 Issue: Volume:456 Page:137-143
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Kwok Yvonne K.,Wong Kit Man,Lo Fai Man,Kong Grace Wing Shan,Moore J. Kent,Wu Shaoping,Lam Stephen T.S.,Schermer Mack,Leung Tak Yeung,Choy Kwong Wai

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference39 articles.

1. Fragile X Syndrome;Hagerman,2002

2. 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

3. Clinical involvement and protein expression in individuals with the FMR1 premutation;Tassone;Am. J. Med. Genet.,2000

4. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X;Hagerman;Neurology,2001

5. The fragile-X premutation: a maturing perspective;Hagerman;Am. J. Hum. Genet.,2004

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model;eneuro;2022-08-17

2. Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice;Journal of Medical Genetics;2021-04-22

3. Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study;Hong Kong Medical Journal;2021-02-19

4. The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve;Reproductive Biology and Endocrinology;2020-08-12

5. Capillary electrophoresis based on nucleic acid analysis for diagnosing inherited diseases;Clinical Chemistry and Laboratory Medicine (CCLM);2020-05-05

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