Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (7th Ed.)
Perinatal and Reproductive Genetics

Coordinators: Pyeritz Reed E., Korf Bruce R., Grody Wayne W.

Language: English

122.46 €

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318 p. · 19x23.4 cm · Hardback

Emery and Rimoin?s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

1 Introduction to Perinatal Disorders and Reproductive Genetics
Susan J. Gross
2 Prenatal Screening for Neural Tube Defects and Aneuploidy
Robert G. Best
3 Techniques for Prenatal Diagnosis
Lee P. Shulman, Jeffrey S. Dungan and Andrew F. Wagner
4 Neonatal Screening
Inderneel Sahai and Richard W. Erbe
5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts
Joe Leigh Simpson
6 Genetics of Male Infertility
Csilla Krausz, Viktoria Rosta, Ronald S. Swerdloff and Christina Wang
7 The Genetics of Disorders Affecting the Premature Newborn
Aaron R. Prosnitz, Jeffrey R. Gruen and Vineet Bhandari
8 Fetal Loss
Rhona Schreck, John Paul Govindavari and John Williams III
9 Preeclampsia
Anthony R. Gregg
10 Noninvasive Prenatal Testing and Noninvasive Prenatal Screening
Charles M. Strom
11 Preimplantation Genetic Testing
Svetlana A. Yatsenko and Aleksandar Rajkovic
12 Expanded Carrier Screening
Ronald J. Wapner, Katie Johansen Taber, Gabriel Lazarin and James D. Goldberg
Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.
Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics fr
  • Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications
  • Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies
  • Includes color images that support the identification, concept illustration, and method of processing
  • Features contributions by leading international researchers and practitioners of medical genetics
  • Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field