Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation-Reference-Cited by-同舟云学术

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Published:1991-12-12 Issue:24 Volume:325 Page:1673-1681
ISSN:0028-4793
Container-title:New England Journal of Medicine
language:en
Short-container-title:N Engl J Med

Author:

Rousseau François,Heitz Dominique,Biancalana Valérie,Blumenfeld Sandra,Kretz Christine,Boué Joëlle,Tommerup Niels,Hagen Carl Van Der,DeLozier-Blanchet Célia,Croquette Marie-Françoise,Gilgenkrantz Simone,Jalbert Pierre,Voelckel Marie-Antoinette,Oberlé Isabelle,Mandel Jean-Louis

Publisher

Massachusetts Medical Society

Subject

General Medicine

Link

http://www.nejm.org/doi/pdf/10.1056/NEJM199112123252401

Cited by 577 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 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation;The Journal of Molecular Diagnostics;2024-06

2. Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome;Expert Review of Molecular Diagnostics;2023-11-24

3. Trehalose consumption ameliorates pathogenesis in an inducible mouse model of the Fragile X-associated tremor/ataxia syndrome;Nutritional Neuroscience;2023-09-30

4. Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation;Cell;2023-06

5. High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations;Clinical Case Reports;2023-06

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