41. Genetic Disorders -- Affective Spectrum Disorder A genetic disorder called affective spectrum disorder may link 14 different mental But Hudson reports in the February issue of The Archives of general http://my.webmd.com/content/article/60/67242.htm?z=1820_00000_0000_f1_01

42. HHS - Diseases & Conditions genetics. general. Federal Programs In Genomics (National Genome Research Institute) genetic Diseases (healthfinder) genetic disorders (MEDLINEplus) http://www.os.dhhs.gov/diseases/index.shtml

Skip Navigation HHS Home Questions? Contact HHS ... Site Map Please note that documents in PDF format require Adobe's Acrobat Reader Primary Sources for Diseases and Conditions: MEDLINEplus About Alphabetical Listing Healthfinder About Alphabetical Listing Topics on this Page What's New Bioethics Clinical Trials Complementary and Alternative Medicine ... top of page What's New Autism (Health and Human Services) Breast Cancer (Health and Human Services) top of page Bioethics Bioethics (healthfinder) Informed Consent (healthfinder) Online Bioethics Resources (National Human Genome Research Institute) Online Bioethics Resources (National Institutes of Health) ... top of page Clinical Trials Clinical Trials (healthfinder) Clinical Trials (MEDLINEplus) Find Clinical Trials (http://clinicaltrials.gov/) What Are Clinical Trials? (http://clinicaltrials.gov/) ... top of page Complementary and Alternative Medicine Alternative Medicine (MEDLINEplus) Alternative Medicine (healthfinder) Naturopathic Medicine (healthfinder) Herbal Medicine (MEDLINEplus) ... top of page Coping/Support Coping with Cancer (National Cancer Institute) Coping With Chronic Illness (National Institutes of Health) [ PDF Support Groups (healthfinder) top of page Drinking and Alcohol General: Alcohol (healthfinder) Alcohol Consumption (MEDLINEplus) National Institute on Alcohol Abuse and Alcoholism Substance Abuse and Mental Health Services Administration Alcoholism: Alcoholism (MEDLINEplus) Alcoholism (healthfinder) Alcohol Abuse (healthfinder) National Institute on Alcohol Abuse and Alcoholism ... Substance Abuse Facility Locator (Substance Abuse and Mental Health Services Administration) Youth:

43. HealthGene Corp. - Molecular Diagnostic And Research Center general Info Infectious Testing genetic Testing DNA Profiles Non DNA Tests. DNA tests for genetic and infectious diseases in dogs. genetic disorders http://www.healthgene.com/

HOME COMPANY FEEDBACK CONTACT ... TECHNOLOGY DIRECT ACCESS : Company Info Forms and Downloads Feedback DNA Technology Contact Us Veterinary Diagnostic Lab - Breeders Birds Dogs Cats Veterinary Testing: - Small Animals 1. Profiles 2. Infectious Testing 3. Genetic Testing - Large Animals MD Products and Services - Fast RNA and DNA Elution - Fast RNA Stain Veterinary DNA tests for small and large animals General Info Infectious Testing Genetic Testing DNA Profiles ... Non DNA Tests DNA tests for genetic and infectious diseases in dogs Genetic Disorders Infectious Testing Fingerprinting Canine COLOR DNA Testing ... Canine Pregnancy Test Avian DNA sexing, fingerprinting and infectious testing Sexing Fingerprinting Infectious Testing Sample Collection Kits DNA testing for FIV, Feline Coronavirus, DNA Profiles, and other infectious testing Infectious DNA Testing Molecular Diagnostic Products Fast RNA Stain Fast RNA and DNA Elution Highlights DNA Technology - Myths vs Reality...

44. University Of Tennessee Boling Center For Developmental Disabilities genetic disorders. » Angelman Syndrome Foundation (USA) provides information for Galactosemia is an online resource offering general information about http://www.utmem.edu/bcdd/resources/dr_genetics.htm

Skip navigation to go to main page content University Links Health Science Center Links About UTHSC Colleges Administration Admissions Research Students Visitors WebMail SiteMap Contact Information Enter search terms Select type of search Select type of search People Search Campus Search System Search Home About BCDD Services Service Programs ... Disability Resources Quick Links Newsletter Monthly Calendar Home Resources ... Disability Resources Resources Introduction Publications Disability Resources Genetic Disorders Angelman Syndrome Foundation (USA) provides information for parents and professionals about Angelman Syndrome, a genetic disorder caused by abnormal function of the gene UBE3A. Down Syndrome Congress offers information, resources, and network supports for families and professionals interested in Down Syndrome. Galactosemia (O MIM) , an online reseach article Galactosemia is an online resource offering general information about galactosemia, galactose content in foods, discussion forum, recipes, and related links. Genetic Alliance offers information, research, professional and support group resources, as well as provides forum for the discussion of legal, ethical, and social issues related to genetic disorders.

45. Genetic Counseling-In General identify the likelihood of passing certain genetic diseases or disorders (those caused In general, they result from an error (mutation) in http://endoflifecare.tripod.com/juvenilehuntingtonsdisease/id47.html

Juvenile-HD HOME INDEX Page Tools For Viewing 10 The Most Commonly Asked Questions ... Genetic Testing for HD Genetic Counseling-In General Psychological Impact Intro: Genetics/Genetic Testing Prenatal Testing-In General o Genetic Testing Resources ... GUESTBOOK Genetic Counseling-In General INDEX Page www.kidshealth.com If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, diet questionnaires, and family history forms crowd your schedule and your desk, but each of these helps to assess the health of you and your baby - and to predict any potential health risks. Unlike your parents, you may also have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders (those caused by a defect in the genes, the tiny, DNA-containing units of heredity that determine the characteristics and functioning of the entire body) to your children. Some of the more familiar genetic disorders are Down syndrome cystic fibrosis sickle cell anemia and Tay-Sachs disease (a fatal disease affecting the central nervous system). If

46. ETHICAL AND SOCIAL IMPLICATIONS OF GENETIC DISORDERS The practice of medical genetics is similar to the practice of general The recognition that a person has a particular genetic disorder might also lead http://www.usd.edu/med/som/genetics/curriculum/3DETHIC4.htm

(Lesson 3- Table of Contents) (Next) (Glossary) ETHICAL AND SOCIAL IMPLICATIONS OF GENETIC DISORDERS As discussed previously, genetic counseling refers to the provision of information regarding a genetic disorder or birth defect, the implications for current health, future development or psychosocial function, and follow-up care. It also refers to the provision of information to the patient or parents regarding the risk of occurrence or recurrence in future children and their reproductive options. The practice of medical genetics is similar to the practice of general medicine in that an accurate diagnosis needs to be established, and the prognosis and management, if any, needs to be discussed. However, a major difference lies in the fact that the diagnosis of a genetic disorder impacts not just the patient, but the immediate and extended family as well. For instance, clinical evaluation of family members may be necessary to establish a patient's diagnosis. The recognition that a person has a particular genetic disorder might also lead to the realization that other family members are at risk. Like a stone thrown in water, there is an ever widening circle of people who are touched when a patient is diagnosed with a genetic disorder. The diagnosis touches members of the immediate and extended family. It may also send ripples through social service agencies, the school system, the insurance and health systems, the community and society in general. Following a genetic diagnosis, numerous ethical and social issues may be raised. However, the main ethical principles of medicine still hold: autonomy, privacy, beneficence and non-malfeasance, and justice.

47. Center For Genetic Disorders Of Cognition And Behavior Down The Center for genetic disorders of Cognition and Behavior. Funded by the general Clinical Research Center (NIH) of the Johns Hopkins Medical http://gcbcenter.kennedykrieger.org/ds_re.jsp

48. Allegheny General Hospital: For Patients And Public: WPAHS Health Services Members of certain ethnic groups at increased risk for genetic disorders (ie Miss Dudlicek has been a prenatal genetic counselor at Allegheny general http://www.wpahs.org/agh/services/index.cfm?sid=754

49. CCR: NIGMS HGCR: General Description Of CCR New Initiative Complex disorders Collection. Advances in understanding genetic diseases caused by single genes have been facilitated by the resources at http://locus.umdnj.edu/ccr/comm/gd.html

CCR NIGMS NIA NINDS ... LMS Quickfind... NIGMS Collection -Animals -Characterized Mutations -Cell Types -CEPH Families -Chromosome Aberrations -Controls -Dysmorphology -Gene Pathways -HapMap Resource -Human Variation -Hybrids -Inherited Disorders -Extended Families -Phenotypic Overviews -Polymorphism Resource -SNP500 Resource -Special Collections NIA Collection -Human Cells Adolescent Study Aged Sib Pairs Alzheimer Disease Cell Types Characterized Fibros Characterized Mut Chr Aberrations Lifetime Study Longevity Study Normal Controls Oldest Human -Animal Cells Taxonomic Cell Types -DNA Panels NINDS Collection ADA Collection -Phase I pedigrees -Phase II pedigrees -Phase I sib pairs -Phase II sib pairs -Phase I DNA -Phase II DNA Autism Collection -Affected Sib Pairs -Monozygotic Twin Families -Multigenerational Families -Individuals Fragile X tested Primates Collection -Biomaterials by species -Biomaterials by citation -Microsatellite database -Karyotype library Search All Catalogs Search Help About CCR Ordering Biomaterials Submitting Samples ... Feedback General Description of the Coriell Cell Repositories Cells for Research A single cell is the building block for human life. It holds the secret to inherited diseases such as cancer, Alzheimer Disease, diabetes, Down Syndrome, and heart disease. Scientists around the world utilize human cell cultures or the DNA derived from these cultures as the primary resource for multidisciplinary investigations. These studies make possible scientific breakthroughs which form the basis for early diagnosis, prevention, and/or new medical treatments for diseases which are incurable with our present knowledge.

50. Genetic Disorders - High School Pathfinder genetics Home Reference MEDLINE PLUS genetic disorders Use the catalog to search for specific disorders. Two excellent general reference resources are http://www.lkwdpl.org/lhs/geneticdisorders/

Lakewood High School Grade 10 - Ms. Smith Lakewood HS Pathfinders Lakewood City Schools Lakewood Public Library See also: Infectious Diseases Genetics Home Reference MEDLINE PLUS Genetic Disorders Your Genes Your Health ... The Genetic Interest Group - alliance of British support organizations Books: Diseases are found in Dewey 616. Use the catalog to search for specific disorders. Two excellent general reference resources are: RREF 616.04203 WYNBRANDT Wynbrandt, James. The encyclopedia of genetic disorders and birth defects. RREF 616.042 GENETIC Bellenir, Karen. Genetic disorders sourcebook: basic information about hereditary diseases and disorders such as Down syndrome, PKU, hemophilia, Von Willebrand disease, Gaucher disease, Tay-Sachs disease, and sickle cell disease.

51. Eastern Mediterranean Health Journal, Vol. 5 No. 6, Spectrum Of Genetic Disorder Spectrum of genetic disorders and the impact on health care delivery an general framework for the prevention and control of genetic diseases http://www.emro.who.int/Publications/EMHJ/0506/03.htm

Eastern Mediterranean Health Journal Back to Health Journal page Health Journal back issues Home Spectrum of genetic disorders and the impact on health care delivery: an introduction Volume 5, Issue 6, 1999, Page 1104-1113 M.A.F. El-Hazmi Introduction The spectrum of diseases affecting humankind is wide, ranging from those which are purely acquired (environmental) to those which are purely genetic ( Figure 1 ). Purely acquired disorders are those resulting from infections caused by a wide variety of microorganisms, and those due to nutritional deficiencies. For centuries these disorders have been a major cause of morbidity and mortality. However, over the past few decades, significant advances in immunization, the discovery of antibiotics, improvement in general hygiene and nutritional habits and an overall improvement of heath status have led to a significant shift, where the overall prevalence of acquired diseases has decreased considerably in most populations of the world. This has led to the surfacing of genetic disorders as a major cause of morbidity and mortality [ ]. These diseases include the purely genetic diseases, which may be either single-gene disorders or chromosomal disorders, and multifactorial disorders, which result from an interaction between both genetic and environmental factors.

52. General Clinical Research Center | Vanderbilt University | Nashville, Tennessee Vanderbilt general Clinical Research Center. This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. http://www.mc.vanderbilt.edu/gcrc/r_genetics_links.html

Medical Center Home Eskind Library Search Help ... Research iNavigate.GroupName = 'GCRC3'; iNavigate.GroupTitle = 'GCRC3'; iNavigate.OpenOnClick = true; GCRC Home General Information Overview Leadership Related Links Resources Administration Biostatistics Rapid Response Biostatistics Links ... Nursing Training Research Skills Workshops Statistical Workshops Academic Links Patient Information Driving Instructions Want to Volunteer? Studies Recruiting Patients Investigator Information Protocol Information GCRC Contacts GCRC Resources - Genetics Genetics Links Genetics Links of Interest Genetics Basics Genetics Information Genetics Tools/Databases Vanderbilt GCRC Informatics Core Genetic Materials Genetics Basics National Human Genome Research Institute Glossary of Genetic Terms Cold Spring Harbor Laboratory Animated Primer on the Basics of DNA, Genes, and Heredity Medical Genetics Research Tool - Password RequiredThis is a tutorial developed at Meharry Medical College by Dr. James D. Russell. Contact Dr. John Phillips

53. General Public: Genetic Disorder Research At Genzyme What other genetic disorders is Genzyme researching? Mucopolysaccharidosis 1, Fabry Disease, Pompe Disease, Cystic Fibrosis, Hereditary Angioedema, http://www.genzyme.com.au/public/research_and_development_public.htm

Other Genetic Disorders Research being conducted at Genzyme Introduction Treatment for the following genetic disorders is currently being investigated by Genzyme and various collaborators. Cystic Fibrosis Hereditary Angioedema Pemphigus Vulgaris here Cystic Fibrosis More details coming soon! Top of Page Hereditary Angioedema More details coming soon! Top of Page Pemphigus Vulgaris More details coming soon! Top of Page Need more information Top of Page Next Page Genzyme Australasia, 1999-2000. Last updated 15 March 2005 09:01 AM Website designed, built and maintained by Genzyme Australasia Pty Ltd and Labyrinthos Internet Agency

54. Genetic Disorders (Guidelines For Testing Of ) Requirements for testing for genetic disorders and particularly addresses counselling issues Divisions of general Practice, Government Medical Officers, http://www.health.nsw.gov.au/policies/GL/2005/GL2005_012.html

Home A-Z Health Topics Consumer Info Health Professionals ... Contact Us breadCrumbs(">>"); Policy directives and Guidelines policy directives and guidelines by year by A-Z information bulletins ... archive Genetic Disorders (Guidelines for Testing of ) Doc type Guideline Doc No. Functional Group - Sub Group: Clinical/ Patient Services - Medical Treatment Summary Requirements for testing for genetic disorders and particularly addresses counselling issues and laboratory requirements associated with genetic testing. Date of Publication 25 January 2005 Replaces: N/A Author Branch: Statewide Services Development This document applies to: Area Health Services, Statutory Health Corps and Affiliated Health Orgs, Community Health Centres, Divisions of General Practice, Government Medical Officers, NSW Dept of Health, Private Hospitals and Day Procedure Centres, Public Health Units, Public Hospitals Distributed to: Area Health Services, Statutory Health Corps and Affiliated Health Orgs, Community Health Centres , Divisions of General Practice, Government Medical Officers, Health Professional Associations and Related Organisations, NSW Department of Health, Public Health Units, Public Hospitals, Private Hospitals and Day Procedure Centres , Tertiary Education Institutes Review Date: 25 January 2010 File No: Previous reference: Status: Active File link : Genetic Disorders (Guidelines for Testing of ) File size: 51Kb Multilingual Resources Chief Health Officer Alerts Health Calendar Contact us

55. Health Directory For Genetic Disorders offers general information on conditions, DNA mutations, genetic testing, a newsletter about a rare genetic disorder of fat metabolism that causes http://www.health6.com/index.php?t=sub_pages&cat=2288

56. Psci-com: A Gateway To The Public Understanding Of Science This site is aimed at students, teachers and the general public. This site also offers sections on basic genetics, genetic disorders, genetics in http://psci-com.ac.uk/browse/detail/093e2674b5f0e2b2709b2f9047601f8f.html

text only Genetic disorders [ back to keyword index Blazing a Genetic Trail A report from the Howard Hughes Medical Center on attempts by scientists and families to hunt out flawed genes that cause disease. Areas covered include the discovery of the gene for cystic fibrosis, the Human Genome Project, genetic disorders and inheritance and a basic guide to genetics. The full text of the project in PDF format is available, for which Adobe Acrobate reader is required. The report is also available in Spainish. Human genetics Human gene mapping Genetic disorders Contact a Family Contact a Family (CaF) is a national registered charity, founded in 1979, dedicated to helping families who care for children with any disability or special need. As well as information about the work of CaF, the site provides access to the CaF Directory, a database which includes conditions and syndromes for which there are some family support networks. Each entry contains a short medical description of the condition together with details of inheritance patterns and pre- natal diagnosis. This information is followed by details of the related support networks: their activities; publications; and what they offer to families. It is a subscription service, but limited free access is available. Patient education Genetic disorders Genetic Alliance The U.S. based Genetic Alliance is an international coalition that supports individuals with genetic conditions, educates the public and advocates for consumer-informed public policies. The Web Site gives details of the Alliance's activities and initiatives covering public and community participation, consumer public policy, education and provision of quality resources. The health consumer information available includes profiles of different diseases and details of support groups. There is also information on the Alliance's different outreach projects including 'Project Connect', which provides a number of forums in which members can discuss outreach issues and share resources, and the 'Genetic Education Needs Evaluation' (GENE) project, which assesses and improves consumer access to genetic information.

57. Arch Gen Psychiatry -- Sign In Page A generic association between genetic risk for both disorders and white matter volume We surmise that risk for psychosis in general is associated with a http://archpsyc.ama-assn.org/cgi/content/full/61/10/974

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress This item is restricted. Please see below for access options. Full Text Association of Genetic Risks for Schizophrenia and Bipolar Disorder With Specific... McDonald et al. Arch Gen Psychiatry. To view this item, select one of the options below: Sign In User Name Subscribers, activate your online access. Help with Cookies. Can't get past this page? Password Forgot your user name or password? Purchase One-time Access Purchase Article - You may access and print this article (from the computer you are currently using) for 24 hours for US $12, plus applicable local tax. Purchase Access -You may access and print articles in JAMA Archives Journals (from the computer you are currently using) for 24 hours for US $30, plus applicable local tax. Regain Access - If you have previously used Purchase Article or Purchase Access and your access period has not yet expired, you may regain access using the user name and password you created at the time of purchase.

58. Glossary Of Genetic Disorders. to Information on the Internet about genetic disorders and Birth Defects Synophrys Hypertrophy (general increase in bulk) and fusion (joining) of the http://aspin.asu.edu/geneinfo/glos-s.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY (A New Quick TUTORIAL - "How to Translate Medical Terms into Understandable English") Glossary of words beginning with the letter S SCAD Short-Chain Acyl-CoA Dehydrogenase Deficiency. SNE Subacute Necrotizing Encephalomyelopathy, or Leigh Disease or Syndrome. Sacral dimple "Dimple" at the top of the tailbone Sacroiliac Relating to the sacrum and iliac in the lower back. Sarcoma A type of cancer that starts in the bone or muscle Sacroiliac Sagittal Resembling an arrow. Saturated Fat A type of fat that comes from animals. See also: Fats. Sclerae The outer envelope or covering of the eye. Sclerodermatous Resembling or marked by scleroderma, a thickening of the skin. Scoliosis Curvature of the spine Screening Looking for evidence of a particular disease such as cancer in persons with no symptoms of disease. Checking for disease when there are no symptoms. Secondary Diabetes When a person gets diabetes because of another disease or because of taking certain drugs or chemicals.

59. Human Genetics - Mendelian Inheritance 1 general BACKGROUND. Human genetic diseases and normal variations can be placed Each of these single gene disorders, often called Mendelian traits or http://www.uic.edu/classes/bms/bms655/lesson2.html

HUMAN GENETICS for 1st YEAR STUDENTS MENDELIAN INHERITANCE GENERAL BACKGROUND Human genetic diseases and normal variations can be placed into one of five categories: single gene disorders (diseases or traits where the phenotypes are largely determined by the action, or lack of action, of mutations at individual loci); multifactorial traits (diseases or variations where the phenotypes are strongly influenced by the action of mutant alleles at several loci acting in concert); chromosomal abnormalities (diseases where the phenotypes are largely determined by physical changes in chromosomal structure - deletion, inversion, translocation, insertion, rings, etc., in chromosome number - trisomy or monosomy, or in chromosome origin - uniparental disomy); mitochondrial inheritance (diseases where the phenotypes are affected by mutations of mitochondrial DNA); and diseases of unknown etiology that seem to "run in families." About Mendelian traits , or single gene disorders, fall into 5 categories or modes of inheritance based on where the gene for the trait is located and how many copies of the mutant allele are required to express the phenotype: autosomal recessive inheritance (the locus is on an autosomal chromosome and both alleles must be mutant alleles to express the phenotype) autosomal dominant inheritance (the locus is on an autosomal chromosome and only one mutant allele is required for expression of the phenotype) X-linked recessive inheritance (the locus is on the X chromosome and both alleles must be mutant alleles to express the phenotype in females)

60. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders Management of Common genetic disorders. In general, children with Down syndrome are better with visual processing and right brain functions. http://www.mostgene.org/gd/gdvol16c.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Down Syndrome / Trisomy 21 Introduction Trisomy 21 is the most common autosomal chromosome abnormality with an incidence of 1/800 live births. It occurs in all ethnic groups. Ninety-five percent are due to meiotic non-disjunction. Most of the time the extra chromosome is of maternal origin and the risk increases with increasing maternal age. A translocation is seen in 3-4% of cases, about half of which are de novo and half familial. Mosaicism is seen in 1-2% of children and the clinical picture correlates somewhat with the percentage of normal cells. The recurrence risk depends upon the etiology. In cases with non-disjunction and de novo translocations, the risk is about 1% plus the maternal age risk. Familial 21/21 translocations have a 100% recurrence risk. Other translocations have a lower recurrence risk with a 2-5% risk if the carrier is the father and a 10-15% risk if the mother is the carrier. Clinical Features Individuals with Down syndrome have characteristic facies and typical minor anomalies. Most striking in the newborn are the upslanting palpebral fissures, protruding tongue, abnormal palmar creases, and hypotonia. Once the diagnosis is suspected, it should be confirmed by a chromosomal analysis on cultured lymphocytes.

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