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Fallible Design: Protein-Coding DNA Sequences

John C. Avise

in Inside the Human Genome: A Case for Non-Intelligent Design

Published in print:
2010
Published Online:
May 2010
ISBN:
9780195393439
eISBN:
9780199775415
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195393439.003.0002
Subject:
Biology, Evolutionary Biology / Genetics

This chapter addresses the history and current state of knowledge about human inborn errors of metabolism. Mutations in protein‐coding genes slaughter or maim countless individuals (especially ... More


Integrating Epidemiology with Genetics

Ezra Susser, Sharon Schwartz, Alfredo Morabia, and Evelyn J. Bromet

in Psychiatric Epidemiology: Searching for the Causes of Mental Disorders

Published in print:
2006
Published Online:
September 2009
ISBN:
9780195101812
eISBN:
9780199864096
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195101812.003.28
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter discusses the integration of research on genetic and environmental causes. It argues that finding genetic causes of mental disorders will also provide a key to finding nongenetic causes. ... More


Assessing the evidence for clinical utility in newborn screening

Scott D. Grosse

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0026
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews ... More


Genetic haematological disorders

Sir David Weatherall and Elizabeth A. Letsky

in Antenatal and Neonatal Screening

Published in print:
2000
Published Online:
September 2009
ISBN:
9780192628268
eISBN:
9780191723605
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780192628268.003.0011
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This main focus of this chapter is on genetic disorders of the structure or synthesis of haemoglobin — especially sickle cell disease and the thalassaemias, which are common enough in many ... More


Vertical Transmission of Infectious Diseases and Genetic Disorders

Margaret P. Battin, Leslie P. Francis, Jay A. Jacobson, and Charles B. Smith

in The Patient as Victim and Vector: Ethics and Infectious Disease

Published in print:
2009
Published Online:
May 2009
ISBN:
9780195335842
eISBN:
9780199868926
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195335842.003.0011
Subject:
Philosophy, General

Infectious diseases and genetic conditions are both transmitted “vertically” from a pregnant woman to the child she bears. Most U.S. states require routine screening of women for syphilis during ... More


The Future of Newborn Screening

Stefan Timmermans and Mara Buchbinder

in Saving Babies?: The Consequences of Newborn Genetic Screening

Published in print:
2012
Published Online:
September 2013
ISBN:
9780226924977
eISBN:
9780226924991
Item type:
chapter
Publisher:
University of Chicago Press
DOI:
10.7208/chicago/9780226924991.003.0008
Subject:
Sociology, Health, Illness, and Medicine

The book concludes by enumerating at least five contemporary omens that signal the possible futures of newborn screening. The first omen suggests a future in which screening for rare genetic ... More


Fetal blood and tissue sampling

Pauline A. Hurley and Charles H. Rodeck

in Antenatal and Neonatal Screening

Published in print:
2000
Published Online:
September 2009
ISBN:
9780192628268
eISBN:
9780191723605
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780192628268.003.0020
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter examines the place of fetal blood and tissue sampling in the diagnosis of fetal disorders. Samples of fetal tissue or body fluids are needed for many of the diagnostic tests that are ... More


Saving Babies?: The Consequences of Newborn Genetic Screening

Stefan Timmermans and Mara Buchbinder

Published in print:
2012
Published Online:
September 2013
ISBN:
9780226924977
eISBN:
9780226924991
Item type:
book
Publisher:
University of Chicago Press
DOI:
10.7208/chicago/9780226924991.001.0001
Subject:
Sociology, Health, Illness, and Medicine

It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a ... More


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