Search Results
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … fetal and placental phenotyping in 3 mouse models of Down syndrome . Am J Obstet Gynecol . 2021 …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as … Kastner DL, Ombrello AK . Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition … and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… disease in humans, including: Acquired immunodeficiency syndrome (AIDS) Viral agent: Human immunodeficiency virus …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and … phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review . …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Surgery Title: Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… on an extramural-intramural collaborative grant on Moebius syndrome and related facial weakness disorders, with … ( MYMK ) as the causative gene for Carey-Fineman-Ziter syndrome, and heterozygous non-coding variants (duplications … Engle EC, Collins FS, Manoli I . Differentiating Moebius syndrome and other congenital facial weakness disorders with …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… is at heightened risk for genetic disorders, such as Down Syndrome and spina bifida. The emergence of statistical …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… of the encoded proteins, responsible for Alagille syndrome and multiple endocrine neoplasia type 1. His current … in Menkes disease, Parkinson's disease, and Bardet-Biedl syndrome 1. CGU developed and employed BAC arrays for … positional cloning of the gene responsible for Alagille syndrome (AGS), a congenital disorder characterized by …