(HealthDay)—Polyhydramnios with normal prenatal detailed ultrasound examination is associated with increased risk for adverse outcomes, including fetal malformations, genetic syndromes, neurologic disorders, and developmental ...
Jan 11, 2016
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(Medical Xpress) -- Among various genetic mutations for individuals with Lynch syndrome, a hereditary cancer syndrome that carries a high risk of colon cancer and an above-normal risk of other cancers, researchers have identified ...
Jun 5, 2011
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The first evidence that the underlying genetic defect responsible for trisomy 21, also known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells was presented today (Oct. 22) at the American ...
Oct 22, 2013
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(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure ...
Aug 30, 2012
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Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...
Jan 20, 2023
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People at risk for a certain form of colon and other types of cancer may soon have a better chance at surviving or even avoiding the diseases, thanks to a new study done by the Intermountain Clinical Genetics Institute at ...
Aug 16, 2011
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Northwestern Medicine scientists have discovered a way to regenerate damaged heart muscle cells in mice, a development that may provide a new avenue for treating congenital heart defects in children and heart attack damage ...
May 31, 2024
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Researchers from Karolinska Institutet have analyzed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes ...
Feb 17, 2022
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Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.
Jan 24, 2024
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The lab of Yongchao Ma, Ph.D., from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago, discovered how the genetic defect in fragile X syndrome—a type of autism—delays ...
Jul 23, 2019
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