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

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

Language: English

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400 p. · 19x23.4 cm · Hardback

Emery and Rimoin?s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated 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. 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 in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included.

1. Genetics of Developmental Disorders (overview) 2. Human Developmental Genetics 3. Abnormal body size and proportion 4. Clefting, Dental, and Craniofacial Syndromes 5. Craniosynostosis 6. Dental Disorders 7. Genetics of Sexual Development 8. Rasopathies 9. A Clinical Approach to the Dysmorphic Child 10. Autosomal Trisomies 11. Sex-Chromosome Abnormalities 12. Deletions and Other Structural Abnormalities of the Autosomes

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
  • Revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to developmental disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods
  • Provides genetic researchers, students and health professionals with an in-depth examination of the genetic basis of a range of developmental disorders, including clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among others
  • Includes color images supporting identification, concept illustration, and method processing
  • Features contributions by leading international researchers and practitioners of medical genetics
  • Presents a robust companion website that offers further teaching tools and links to outside resources and articles