Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of ...
Dec 13, 2012
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5.2% of the global population carry hemoglobin abnormalities, resulting in 300,000 to 400,000 children born with severe hemoglobinopathies annually. Thalassemia, a hereditary hemoglobinopathy, occurs in 4.4 out of every 10,000 ...
Nov 17, 2023
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(HealthDay)—Use of the BRCAPRO model for assessment of the likelihood of having a germline BRCA1/BRCA2 mutation, based on age, ethnicity, and family history, may underestimate the risk of mutations, according to a study ...
Mar 21, 2014
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In a national research partnership, Dr Sarah Heron from the University of South Australia's Sansom Research Institute, epilepsy research group, has been working to map the genes responsible for a rare form of epilepsy - autosomal ...
Oct 22, 2012
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An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
Apr 2, 2013
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Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.
May 22, 2012
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(HealthDay)—For patients undergoing outpatient colonoscopy, a family history questionnaire (FHQ) sent by mail is associated with an increase in available family history and referral for genetic counseling, according to ...
Jun 23, 2017
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Commercially insured patients with cancer typically have low costs for genetic counseling, according to a research letter published online July 29 in JAMA Health Forum.
Aug 4, 2022
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Congenital heart defects may be much more common among children of women with heart defects than of men with heart defects, according to new research.
May 25, 2022
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Health care providers and insurers agree that it's in everyone's best interest to refer women for genetic testing if their family history of breast or ovarian cancer puts them at higher risk. What they don't agree on is what ...
Sep 15, 2016
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