Genetics

Neurogenetic Testing: A Case-Based Approach 

Thomas D. Bird, MD Roberta A. Pagon, MD Departments of Neurology and Pediatrics University of Washington VA Medical Center / Children's Hospital & Regional Medical Center Seattle, WA, Presented at the 58th Annual Meeting of the American Academy of Neurology, San Diego, California in April, 2006

Genetic and Rare Diseases Information Center (GARD)

GARD is a resouce for information about genetic conditions and rare diseases. It was developed through a collaboration of the Office of Rare Disease Research and the National Human Genome Research Institute.

Genetics Home Reference (GHR): Your guide to understaing Genetic Conditions

This reference guide provides information about the effects of genetic varitations on human health.

Genetic Behavior Disorders

This PowerPoint by Dr. Robin Blitz identifies how you can use specific behaviors as clues for underlying genetic diseases.

Internet Resources and Websites 

Angelman Syndrome

Angelman Syndrome Foundation: www.angelman.org

Angelman Syndrome (GHR): www.ghr.nlm.nih.gov/condition/angelman-syndrome

National Institute of Neurological Disorders and Stroke, Angelman Syndrome: www.ninds.nih.gov/disorders/angelman

Down Syndrome

National Association for Down Syndrome: www.nads.org

National Down Syndrome Congress: www.ndscenter.org

National Down Syndrome Society: www.ndss.org

Down Syndrome (GHR): www.ghr.nlm.nih.gov/condition/down-syndrome

National Institute of Health, Down Syndrome: www.nichd.nih.gov/health/topics/down_syndrome

Fragile X Syndrome

National Fragile X Foundation: www.nfxf.org

Fragile X: www.fragilex.org

Fragile X (GHR): www.ghr.nlm.nih.gov/condition/fragile-x-syndrome

National Institute of Health, Fragile X: www.nichd.nih.gov/health/topics/fragile_x_syndrome

Lesch-Nyhan Syndrome

Lesch-Nyhan Disease International Study Group: www.lesch-nyhan.org 

Lesch-Nyhan Syndrome (GHR): www.ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome

National Institute of Health, Lesch-Nyhan Syndrome: www.ninds.nih.gov/disorders/lesch_nyhan

Prader-Willi Syndrome

Prader-Willi Syndrome Association: www.pwsausa.org

Prater-Willi Syndrome (GHR): www.ghr.nlm.nih.gov/condition/prader-willi-syndrome

National Institute of Health, Prader-Willi Syndrome: www.nichd.nih.gov/health/topics/Prader_Willi_Syndrome

Rett Syndrome

International Rett Syndrome Foundation: www.rettsyndrome.org

Rett Syndrome Research Trust: www.rsrt.org

Rett Syndrome (GHR): www.ghr.nlm.nih.gov/condition/rett-syndrome

National Institute of Health, Rett Syndrome: www.ninds.nih.gov/disorders/rett

Turner Syndrome

Turner Syndrome Society of the United States: www.turnersyndrome.org

Turner Syndrome (GHR): www.ghr.nlm.nih.gov/conditions/turner-syndrome

National Institute of Health, Turner Syndrome: http://turners.nichd.nih.gov

William's Syndrome

William's Syndrome Association: www.williams-syndrome.org

William's Syndrome (GHR): www.ghr.nlm.nih.gov/conditions/williams-syndrome

National Institute of Health, William's Syndrome: www.ninds.nih.gov/disorders/williams

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