Three mutations at BRCA1 gene responsible for breast and ovarian hereditary cancer
Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO) conducted a functional and structural study of seven missense variants ...
Cancer
Apr 18, 2013 |
not rated yet |
0
ACMG releases statement on noninvasive prenatal screening
The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...
Other
Apr 08, 2013 |
not rated yet |
0
USPSTF: BRCA testing for women with family history
(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRC ...
Cancer
Apr 02, 2013 |
not rated yet |
0
Australia-led study in epilepsy breakthrough
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.
Genetics
Apr 02, 2013 |
3 / 5 (1) |
0
Genetic risk strategies needed for young, black, female breast cancer patients, study shows
Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared ...
Cancer
Mar 21, 2013 |
not rated yet |
0
U-M to develop guide for parents of children with disorders of sex development
When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure.
Health
Jan 16, 2013 |
not rated yet |
0
An embryo that is neither male nor female
So, is it a girl or a boy? This is the first question parents ask at the birth of an infant. Though the answer is obvious, the mechanism of sex determination is much less so. Researchers at the University of Geneva (UNIGE) ...
Genetics
Jan 03, 2013 |
not rated yet |
0
Two new genetic mutations associated with Cowden syndrome
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 ...
Genetics
Dec 13, 2012 |
5 / 5 (2) |
0
|
Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis
Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics ...
Genetics
Nov 07, 2012 |
5 / 5 (1) |
0
|
Research helps unlock gene secrets of autosomal dominant nocturnal frontal lobe epilepsy
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 ...
Genetics
Oct 22, 2012 |
not rated yet |
0
Parents of babies with sickle cell trait are less likely to receive genetic counseling, study says
Parents of newborns with the sickle cell anemia trait were less likely to receive genetic counseling than parents whose babies are cystic fibrosis carriers, a new study from the University of Michigan shows.
Genetics
Sep 11, 2012 |
not rated yet |
0
Genetic counseling doesn't affect pre-diabetes behavior
(HealthDay)—Receiving genetic risk counseling does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for type 2 diabetes, according to a ...
Diabetes
Sep 07, 2012 |
5 / 5 (1) |
0
Pre-test genetic counseling increases cancer knowledge for BRCA patients
(Medical Xpress) -- Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited decreases in distress. ...
Cancer
Aug 15, 2012 |
not rated yet |
0
|
Cleft lip/palate cause much more than cosmetic problems
Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.
Diseases, Conditions, Syndromes
May 22, 2012 |
not rated yet |
0
Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
5 / 5 (3) |
0
|
