Search Results
Facet (Page)
Refine Your Search
Audiences
Events
Sections
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… … Chromosome, Mutation, Sex Chromosome, Sex Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … The Y chromosome is one of the two sex …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X-Linked … X-linked, as related to genetics, refers to characteristics … or traits that are influenced by genes on the X chromosome. … Chromosome, Mutation, Sex Chromosome, Sex Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… medical student from Cameroon, collected images on Fragile X syndrome from physicians around the world and assessed the data for the atlas. Fragile X is a genetic condition that causes a range of …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… Genetics at Baylor College of Medicine, where she studied Fragile X Syndrome. She received her B.S. in Biology from the …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… gene. … Osteogenesis imperfecta (OI) causes bones to be fragile and easily broken and is also responsible for other … and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in … hearing loss that progresses after puberty may be present. X-rays are also used to diagnose OI. X-ray findings include …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… to cope,” said Dr. McGuire. “But the B cells are too fragile due to their limited energy, so they are unable to …
News Release
NHGRI's Dr. Elaine Ostrander and the Smithsonian's Dr. Dennis Stanford discover North America's oldest dog relics, important in canine genome research.
… sterile facilities necessary to conduct DNA extractions of fragile samples. Dr. Ostrander and her team will travel to …