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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
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 …