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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
3 Results
- AddendumOpen Archive
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Genetics in MedicineVol. 22Issue 12p2125Published in issue: December, 2020- Michael T. Bashford
- Scott E. Hickey
- Cynthia J. Curry
- Helga V. Toriello
- The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
Cited in Scopus: 0This is an addendum to the article available online at https://doi.org/10.1038/gim.2012.165 . - CorrectionOpen Archive
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Genetics in MedicineVol. 22Issue 9p1568Published in issue: September, 2020- Michael T. Bashford
- Scott E. Hickey
- Cynthia J. Curry
- Helga V. Toriello
Cited in Scopus: 0An amendment to this paper has been published and can be accessed via a link at the top of the paper. - ACMG Practice GuidelineOpen Archive
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
Genetics in MedicineVol. 15Issue 2p153–156Published in issue: February, 2013- Scott E. Hickey
- Cynthia J. Curry
- Helga V. Toriello
Cited in Scopus: 106MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous thromboembolism.
