The role of AGG interruptions in theFMR1gene stability: A survey in ethnic groups with low and high rate of consanguinity-Reference-Cited by-同舟云学术

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The role of AGG interruptions in theFMR1gene stability: A survey in ethnic groups with low and high rate of consanguinity

Published:2019-08-27 Issue:10 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Manor Esther¹^ORCID,Gonen Raphael²,Sarussi Benjamin²,Keidar‐Friedman Danielle³,Kumar Jay⁴,Tang Hiu‐Tung⁴,Tassone Flora⁴⁵

Affiliation:

1. Faculty of Health Science, Ben‐Gurion University of the Negev Genetic Institute Soroka University Medical Center Beer Sheva Israel

2. Nuclear Research Center Negev Beer‐Sheva Israel

3. Department of Life Sciences Ben Gurion University Beer Sheva Israel

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

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.946

Reference44 articles.

1. Paternal transmission of a FMR1 full mutation allele

2. Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests

3. FMR1 and the fragile X syndrome: Human genome epidemiology review

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

5. Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Cited by 6 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. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea;2023-07-07

2. Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations;Journal of Genetics and Genomics;2021-12

3. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2021-05

4. 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

5. Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations;Frontiers in Genetics;2020-11-13

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