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¿Qué son las malformaciones arteriovenosas?
NINDS Espanol — Información del malformaciones_arteriovenosas/Spanish-language fact sheet on arteriovenous malformations compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Las malformaciones arteriovenosas (MAV) son defectos del ...More…
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Neurofibromatosis
National Library of Medicine — NF2: neurofibromin 2 (merlin) Gene summary Found: ...have been identified in people with MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) Gene summary Found: ...characteristic of a condition known as MSH2: mutS homolog 2, colon ...More…
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Muscular Dystrophy
National Library of Medicine — Duchenne and Becker muscular dystrophy Emery-Dreifuss muscular dystrophy Fukuyama congenital muscular dystrophy Laing distal myopathyMore…
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The Structures of Life
Genetic Medical Sciences — This science education booklet reveals how structural biology provides insight into health and disease and is useful in developing new medications. Chapter 3: The World of NMR: Magnets, Radio Waves, and Detective Work Chapter 4: Structure-based ...More…
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A Guide for XXY Males and Their Families
Child Health & Human Development — In 1942, Dr. Harry Klinefelter and his coworkers at the Massachusetts General Hospital in Boston published a report about nine men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. By the late ...More…
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Frequently Asked Questions About Genetic and Genomic Science
Human Genome Research Institute — Genetics and genomics both play a role in health and disease. Genetics helps individuals and families learn about how conditions, such as sickle cell anemia, are inherited in families; what screening and testing is available; and in for some ...More…
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Sickle cell disease
National Library of Medicine — Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can ...More…
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Facts About Down Syndrome
Child Health & Human Development — Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all ...More…
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News in Health, June 2005 - (NIH)
News in Health — End of one-size-fits-all medicine, history for your health, June 2005 issue of The NIH News in Health - Consumer Information Based on Research from the National Institutes of Health Many people collect their family history for a hobby. Did you ...More…
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What is Fragile X syndrome?
Child Health & Human Development — Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body's cells, especially cells in the brain, to develop and function normally. The amount and usability of this protein, in ...More…
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NICHD Publications: More Information about?
Child Health & Human Development — A to Z health & human development topics Clinical research & clinical trials Publications & materials Research Conducted at the NICHD Research Supported by the NICHD Resources for researchers Supported research networks & more Who can I ...More…
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Currently Supported Large-Scale Genome Sequencing Projects
National Institute of Allergy — When scientists identify genes that are unique to a particular microbe, drugs can be targeted to these genes, and the products of these genes can be incorporated into experimental vaccines. Strategies can be devised to counteract genetic ...More…