Tag: Genetics
2011 Criteria Facilitate Diagnosis of Long QT Syndrome
2011 LQTS diagnostic criteria can identify more mutation carriers as being at high probability of LQTS
MODY1 Form of Diabetes May Require Alternate Treatment
Mutations in HNFα cause Mature-Onset Diabetes of the Young 1, with diminished GSIS
Genotype Doesn’t Predict A-Fib in Hypertrophic Cardiomyopathy
Genotype was not predictive of onset or severity of atrial fibrillation
Gene Panel Test May Help Predict Ovarian Cancer Prognosis
Women with mutations in some 'DNA repair' genes may survive much longer, research shows
MTHFR Polymorphism, Higher Homocysteine Up Cataract Risk
Increased risk for methylenetetrahydrofolate reductase polymorphism, elevated homocysteine
Familial Hypercholesterolemia More Common Than Thought
Researchers find roughly 834,500 Americans have inherited condition
CYP3A7*1C Allele Linked to Cancer Mortality, Progression
Associated with adverse outcomes in breast cancer, lung cancer, chronic lymphocytic leukemia
Gene Test IDs Breast CA Patients Who May Not Need Chemo
Analysis can help women who won't benefit from additional treatment to avoid side effects
Large Number of Mutations Needed to ID TB Drug Resistance
Predicted resistance to rifampicin and isoniazid ID'd based on 238 mutations across 18 genetic loci
ACOG Issues Recommendations on Prenatal Screening
Bulletins relate to prenatal diagnostic testing for genetic disorders, screening for fetal aneuploidy
