Search Genetics: assessment
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Description:
This page provides extensive information Myotonic Muscular Dystrophy and includes images associated with the disorder.
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The Muscular Dystrophy Association (MDA) 0
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This article describes the clinical features of APC-associated polyposis conditions, which include familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome.
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University of Washington 0
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Calculating Revised Carrier Risks -- Bayes Analysis
Description:
Bayesian analysis allows one to compare the likelihood of 2 outcomes based on recognized facts. This approach can be used to calculate a variety of probabilities important in medical genetics, including the likelihood of being a carrier following a negative carrier screen. To perform a Bayes analysis in this situation, one must first define the individual's initial carrier risk (prior probability) -- usually based on pedigree calculations or ethnicity data. That initial risk can then be modified based on the negative carrier screen result to determine a revised carrier risk (posterior probability). An example of a common calculation is shown below. Population-Based Cystic Fibrosis Carrier Screening
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A summary, history and examination checklist, and communication strategies for assessment of a newborn with dysmorphology.
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Newborn Emergency Transport Service (www.netsvic.org.au) 0
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APGAR is a quick test performed at 1 and 5 minutes after birth. This document discusses how the APGAR score can help determine how well the baby tolerated the birthing process.
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U.S. National Library of Medicine 0
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The American College of Medical Genetics is composed primarily of doctoral (MD, PhD, DO) and master's level (genetic counselors) medical genetics professionals. This is a searchable database of all ACMG members by name or location.
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American College of Medical Genetics 0
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This page provides an overview of Prader-Willi syndrome with links to many scientific resources about the disease.
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Medline 0
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Presents the recommendations of the Pedigree Standardization Task Force (PSTF) for standard human pedigree nomenclature and symbols. Full article is available.
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RL Bennett, et al., Division of Medical Genetics, University of Washington Medical Center, Seattle 0
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MedicineNet.com provides a general discussion about genetic counseling, including the psychosocial component of the process.
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MedicineNet.com 0
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