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Biochemical / molecular | Brochures | Cancer | Centers | Clinical | Cytogenetics | Dysmorphology | Genetic Counseling | Genome | Labs | Neuromuscular | Preconception and Prenatal diagnosis | Prevalence of Genetic Conditions / Birth Defects | Primary Care / Managed Care | Publications | References | Research | Support Groups

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Clinical Information

  • OMIM - Online Mendelian Inheritance in Man, searchable database of dysmorphology and other genetic syndromes, MEDLINE articles, gene map
  • GeneClinics: Medical Genetics Knowledge Base, formerly (Genline), diagnosis, management & counseling for individuals & families with inherited conditions
  • GeneTests (formerly Helix) - DNA diagnostic testing & research information
  • Office of Genomics and Disease Prevention, Center for Disease Control (CDC)
  • CLINGEN-L Clinical Genetics Mailing List for medical professionals. To subscribe, send the message "subscribe CLINGEN-L [your name]" to
  • Healthfinder Genetic Resources, select "genetics" for search
  • Cancer Genetics Working Group, National Cancer Institute
  • Blistering Disease Clinic, Stanford, CA - literature, lectures, diagnostic testing
  • Congenital Heart Defect Diagrams RArdinger, University of Kansas Medical Center
  • TERIS (teratogen information system), University of Washington
  • Gene/Disease Specific Information, HuGE Net (Human Genome Epidemiology), Centers for Disease Control (CDC)
  • Medicine and the New Genetics, U.S. Department of Energy
  • GeneCards, database of human genes, products and involvement in diseases, Weizmann Institute of Science, Israel
  • Human Genome Education Model Project II, Georgetown University and the Alliance of Genetic Support Groups
  • Merck Manual:  General Genetics Inheritance of Single-Gene Defects Multifactorial Inheritance Nontraditional Inheritance Chromosomal Disorders Mitochondrial DNA Abnormalities Immunogenetics, Forensic Genetics, Genetic Therapy Congenital Anomalies pedigree symbols pharmacogenetics etc.
  • Genetics Case Studies for Medical Students, Uniformed Services University
  • Genetic Conditions, brief guide to conditions / concerns frequently seen in genetics clinics, United Kingdom, new 5/07
  • Biochemical / molecular genetics

  • World Wide Web Biochemical Genetics Test List , University of California, San Diego, Biochemical Genetics
  • Biochemical genetics sites
  • Clinical Molecular Genetics Society (United Kingdom)
  • EuroGenTest, includes unites on genetic testing: quality management, information databases, public health, new technologies and education, new 5/07
  • Cancer


  • Cytogenetic images and animations, Tokyo Medical College, Department of Paediatircs, Genetics Study Group, Hironao Numabe, M.D.
  • Cytogenetic Sites
  • Chromosomal Conditions
  • Dysmorphology

  • Dysmorphology Discussion Board, editors of Clinical Dysmorphology (for registered professionals), clinical features, photos, and x-rays. Colleagues e-mail diagnostic suggestions, which are attributed and displayed with the patient information
  • Dysmorphic Syndrome Features, UK Human Genome Mapping Project Resource Centre
  • Syndromology Resources, Russia (diagnosis, databases, education resources, minor anomalies)
  • Consumer / Lay Advocacy Support Groups

  • Genetic Conditions / Rare Conditions Support Groups
  • Genetic Brochures/ pamphlets

  • Understanding Gene Testing brochure - NIH/National Cancer Institute
  • Quick Reference Fact Sheets, March of Dimes (genetic conditions, prenatal series, birth defects and genetics: Genetic Counseling: Who Can Benefit?, How Genetic Counseling Can Help You, Genetic Counseling, other publications)
  • Ten Syndromes Most Commonly Associated With Hearing Impairment, genetic concepts /conditions, genetics and deafness, Boystown, Omaha, NE
  • Genetic Consultation / Counseling: The Process
  • Preconception and Prenatal Genetic Information


  • Before You are Pregnant (pre-pregnancy planning), March of Dimes
  • Contraception choices, RAHatcher, Gynecology / Obstetrics, Emory Univ., Atlanta, GA
  • Maternal Substance Abuse and Child Development, Emory University, Fetal Alcohol Syndrome Misconceptions, Pregnancy, Substance Abuse, Caffeine, Cocaine
  • European Teratology Society (ETS)
  • Folic Acid and Prevention of Neural Tube Defects Educational Materials, by CORN education committee
  • Genetic Disorders, brochure, American College of Obstetricians and Gynecologists, risk factors questionnaire
  • Illinois Teratogen Information Service, Northwestern University Medical School, Chicago
  • Preconception Screening and Counseling Checklist, (.pdf) March of Dimes New
  • Preconception Information - Baby Net
  • Preconception planning, Obstetrics
  • Pregnancy Forsight Project, Swedish Medical Center
  • Pregnancy Planning, MedicineNet
  • Prenatal Genetic Evaluation and Counseling, the Merck Manual
  • Restricted Preconception Diet for Women with PKU recommended, American College of Obstetricians and Gynecologists (ACOG)
  • Think Ahead, about having a baby now or in the future, things you can do, March of Dimes
  • Prenatal (alpha fetoprotein (AFP), triple screen, risk of Down syndrome / other trisomies, chorionic villi sampling (CVS), amniocentesis, ultrasound, other diagnostic tests)

  • Fetal tests: Which ones are right for you? CNN August 9, 1999
  • Policy statements on prenatal testing, American College of Medical Genetics
  • Policy statements on prenatal testing, American Society of Human Genetics
  • Three Dimensional Ultrasound Imaging
  • Genetic Screening for Birth Defects, (.pdf file) American Society for Reproductive Medicine
  • IVFer's Pregnancy Calculator
  • Due Date Calculator, duedateclub
  • Due Date Calculator & other Important Dates During Pregnancy, Mayo Clinic
  • To Test or not to Test: Prenatal Diagnosis Decisions, InteliHealth Inc., April 2000 New
  • Prenatal Evaluation and Counseling, Merck Manual
  •, ultrasound images, appropriate for medical professionals only
  • Drugs in Pregnancy and Lactation,
  • Benefits of prenatal genetic counseling:
  • 1. Guidelines for Clinical Genetics Services for the Public's Health, 1st edition. Council of Regional Networks for Genetic Services, April 1997.   National Maternal and Child Health Clearinghouse 703-356-1964
    2. Burgess, Michael M. et al. Bioethics for clinicians: 14. Ethics and genetics in medicine. CMAJ. 1998. 158:1309-13.
    3. Evans, Mark et al. Integration of genetics and ultrasonography in prenatal diagnosis: Just looking is not enough. Am J Obstet Gynecol. 1996. 174:1925-33

    Neuromuscular information

    Reference materials on human genetics

  • Academic Info: Genetics Links & General Resources
  • Archiving Your Family's DNA, KF Duerinck, 2001, DNA home storage kits for future DNA testing (hair, buccal sample, blood on filter paper, other)
  • Council of Regional (Genetic) Networks (CORN) - Genetic Service Networks, newsletters, chromosome Database, X-linked mental retardation database
  • Embryology Resource
  • Exploratorium, Museum exhibit on genetics, San Francisco, CA
  • GeneLink, Inc.(GNLK) DNA Collection kit
  • Genetics & Molecular Biology Resources
  • Genetic Resources on the Internet - Taubman Medical Library, Ann Arbor, MI
  • Human Genetic Mutant-Cell Repository
  • NIGMS Human Genetic Cell Repository
  • HUM-MOLGEN - Internet Communication Forum in Human Molecular Genetics
  • JAMA Patient Page: Genetics Issue, American Medical Association, November 2001
  • LISTSERV for genetic counselors, National Society of Genetic Counselors
  • MedWeb - Genetics and molecular biology resources
  • OnlineGenetics Resource Center, National Society of Genetic Counselors
  • Genetics Resource Center, University of Pittsburgh
  • Pediatrics and Genetics or Section on Pediatrics / Genetics, Merck Manuel
  • Webliography for Clinical Geneticists, S Holt, librarian,Shodair Hospital, Montana, 1996
  • Old Disease Names and their Modern Definition, Cape Cod Genealogy page
  • Annotated Index of Causes of Death, Tisbury History Home Page
  • Publications

  • American Journal of Human Genetics
  • American Journal of Medical Genetics
  • Journal of Medical Genetics
  • Journal of Genetic Counseling
  • Community Genetics
  • European Journal of Human Genetics
  • GeneReviews
  • Nature
  • Science
  • Clinical Genetics
  • Cancer genetics and cytogenetics
  • Current issues of biomedical journals, hum-molgen (most clinical genetics journals)
  • Classic papers in genetics
  • Clinical Genetic Centers & Departments

    Human Genome Centers

    Genetic Laboratories, Companies

    Resources for Primary Care / Managed Care

    Prevalence of Genetic Conditions / Birth Defects


    Link that takes you to the Genetic Support Groups  Link that takes you to the Genetic Professional Home Page  Link that takes you to the Genetics Education Center Home

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    Genetics Education Center
    University of Kansas Medical Center © 1995-2012
    Debra Collins, M.S. CGC, Genetic Counselor,


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