Medical and Clinical Genetics
Revised
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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
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 listserv@listserv.utoronto.ca
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
Cytogenetics
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
Preconception
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
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
Prenatal
Evaluation and Counseling, Merck Manual
TheFetus.net,
ultrasound images, appropriate for medical professionals only
Drugs
in Pregnancy and Lactation, Perinatology.com
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
Resources
for Primary Care / Managed Care
- Genetics
of Cancer, Northwestern
Medical Center, Chicago, IL
- Clinical
Genetics: A Self-Study Guide, University of South Dakota
School of Medicine, Overview
- Genetic
Disorders and Birth Defects: Compendium of AAP Guidelines for the Primary
Care Practitioner, American Academy of Pediatrics, genetic
policy statements on Congenital Adrenal Hyperplasia, Evaluation of the Newborn
With Developmental Anomalies of the External Genitalia, Folic Acid and Neural
Tube Defects, Achondroplasia, Down Syndrome, Fragile X Syndrome, Marfan Syndrome,
Neurofibromatosis, Sickle Cell Disease, Turner Syndrome, Williams Syndrome,
Maternal Phenylketonuria, Molecular Genetic Testing, Congenital Hypothyroidism,
Newborn Screening, Prenatal Genetic Diagnosis
- Genetic
counseling: Your new job. Are you ready to handle public
misconceptions, confidentiality dilemmas? February 1995 ACP Observer, American
College of Physicians
- Referral
Guidelines for Genetic Evaluations, Counseling, and Clinics
- Patient materials -
deciding about genetic testing / disease specific pamphlets:
- Fact sheet on testing, Ataxia
Foundation making decisions about genetic testing
- Prenatal Tests: What they
are, their benefits and risks, and how to decide whether to have them
or not. Blatt, R, Vintage Books, 1988. Discussion
of practical issues, is supportive of families making their own decisions,
self-awareness exercise at the end of most chapters exploring the pros
and cons of different prenatal testing choices
- National Guideline Clearinghouse TM (NGC),
search for "genetics" documents, public
resource for evidence-based clinical practice guidelines
- AAFP
Core Educational Guidelines in Medical Genetics,
Recommended Core Educational Guidelines for Family Practice Residents
- The
New Genetics: Medicine and the Human Genome,
2001, CD-ROM, genetics and genomics, impact on healthcare and society.
Also courseware for physicians, CME credit through Stanford University, STobin,
Twisted Ladder
- Public
Health and Genetics Web Resources
- Evaluation
of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guideline,
American College of Medical Genetics Foundation Clinical Guidelines Project,
New York State Department of Health
- Vermont
Human Genetics Initiative includes articles for primary care
and slides of talk Genetic Testing: Who, What,
When, Where,How, Why and Why Not, 10/30/97 AEGuttmacher
- Genetics in Primary Care, Royal College of General Practitioners, United Kingdom, March 2006

Research
- ClinicalTrials.gov, ClinicalTrials.gov provides regularly updated information about federally and privately supported clinical research in human volunteers
- CenterWatch.com, information about clinical research, including listings of more than 41,000 active industry and government-sponsored clinical trials, as well as new drug therapies in research and those recently approved by the FDA
- CRISP (Computer Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions)
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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu
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