Search Results
File
… de tres cromosomas X en lugar de dos. El Síndrome de Turner ocurre cuando las mujeres heredan solo una copia del … femeninos X X X X X X Síndrome Síndrome del triple X de Turner 9 Algunas mujeres tienen un raro rasgo de visi�n …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… elucidated the molecular defect underlying Saul-Wilson syndrome, a rare skeletal dysplasia, and the genetic basis of Catel-Manzke-like syndrome, another rare constitutional disorder of bone … projects focus on three major areas: 1) Saul-Wilson syndrome; 2) disorders of FGF23 metabolism; and 3) disorders …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… organelles (LROs), including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified … Kaiser-Kupfer M.I., White J.G., Gahl W.A. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, … A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the … process. This genetic test for Hutchinson-Gilford progeria syndrome also serves to reassure parents of affected children …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… AKT1 polymorphisms are associated with risk for metabolic syndrome. Human Genetics , 129:129. 2011. [ PubMed ] AN Kho, … Science Translational Medicine, 20:79. 2011. [ PubMed ] S Turner, LL Armstrong, Y Bradford, CS Carlson, DC Crawford, AT … Paschall, EW Pugh, LV Rasmussen, LJ Rasmussen-Torvik, SD Turner, RA Wilke, MD Ritchie. Pitfalls of merging GWAS data: …
File
… Related Intellectual Disability (Beaulieu Boycott Innes Syndrome) in Two Siblings from India. Eur J Med Genet . 2020; … ND , Uwineza A, Duenas -Ropque M , Ekure EN , et al. Turner Syndrome in Diverse Populations. Am J Med Genet A. … Diverse Populations -Prader Willi Syndrome, Down Syndrome, Turner Syndrom e (Hospital Nacional Edgardo Rebagliati …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… been identified in this APC gene. Individuals with this syndrome develop many polyps in their colon. People who … (hereditary nonpolyposis colon cancer) also called Lynch Syndrome Individuals with an HNPCC gene mutation have an … detected by the commonly used gene tests. The test for FAP syndrome involves examining DNA in blood cells called …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… pleuropulmonary blastoma (PPB) cancer predisposition syndrome. This disorder represents the first reported cancer predisposition syndrome due to altered microRNA biogenesis. Tumors … deletions of chromosome 9q: A novel microdeletion syndrome. American Journal of Medical Genetics , 128A (4): …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF receptor-associated periodic syndrome). The manuscript reporting this discovery also … in NLRP3 in a patient with adult-onset Muckle-Wells syndrome (MWS), raising the possibility that other patients …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …