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Laboratory testing for fragile X, 2021 revision: a technical …
- https://pubmed.ncbi.nlm.nih.gov/33795824/
- Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome (FXTAS), and fragile X-associated primary ovarian …
Practice Guidelines - ACMG
- https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/Practice-Guidelines.aspx
- © 2023 American College of Medical Genetics and Genomics. All rights reserved. The Find Genetic Services Directory is provided as a general resource for physicians and …
ACMG Standards and Guidelines for fragile X testing: a …
- https://www.acmg.net/docs/ACMG_SG_For_Fragile_X_Testing_7.24.13.PDF
- The gene product is fragile X mental retardation protein (FMRP), a widely expressed RNA-binding protein. The fragile X syndrome is caused by a loss of the …
Laboratory testing for fragile X, 2021 revision: a technical …
- https://www.nature.com/articles/s41436-021-01115-y
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Elaine Spector, Andrea …
ACT Sheets and Algorithms - ACMG
- https://acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508
- ACT Sheets and Algorithms. The ACMG ACT Sheets and their accompanying algorithms are a great resources for health care providers looking for information on genetic …
ACMG Statements and Guidelines - Nature
- https://www.nature.com/collections/afebagafci/
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Elaine Spector Andrea …
ACMG Standards and Guidelines for fragile X testing: a …
- https://www.nature.com/articles/gim201361
- 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...
Home [www.acmg.net]
- https://www.acmg.net/
- © 2023 American College of Medical Genetics and Genomics. All rights reserved. The Find Genetic Services Directory is provided as a general resource for physicians and others …
Carrier Screening for Genetic Conditions | ACOG
- https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
- A person with 55–200 repeats does not have features associated with fragile X syndrome but is at increased risk of fragile X-associated tremor/ataxia syndrome (also known as …
Technical standards and guidelines for fragile X: the first …
- https://pubmed.ncbi.nlm.nih.gov/11388762/
- In part, this is accomplished by the publication of the document “Standards and Guidelines for Clinical Genetics Laboratories,” which was published in its second edition in 1999 and …
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