Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (7th Ed.) Developmental Disorders
Coordonnateurs : Pyeritz Reed E., Korf Bruce R., Grody Wayne W.
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
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
Date de parution : 11-2024
Ouvrage de 400 p.
19x23.4 cm
Mots-clés :
Medical Genetics; Precision Medicine; Clinical Genetics; Clinical Genomics; Genome Structure; Gene Structure; Epigenetics; Human Gene Mutation; Genes in Families; Genetic Linkage; Chromosomal Inheritance; Genetics of Metabolic Diseases; Genetics of Degenerative Diseases; Multifactorial Inheritance; Genetics of Immunologic Disorders; Population Genetics; Pathogenetics of Disease; Genetics and Twins; Genetics of Aging; Pharmacogenetics; Pharmacogenomics; Developmental Disorders; Developmental Genetics; Prenatal Genetics; Perinatal Genetics; Human Developmental Genetics; Abnormal body size; Abnormal body proportion; Clefting Syndromes; Dental Syndromes; Craniofacial Syndromes; Craniosynostosis; Dental Disorders; Genetics of Sexual Development; Rasopathies; Dysmorphic Child; Dysmorphology; Autosomal Trisomies; Sex-Chromosome Abnormalities; Chromosome Deletions; Structural Abnormalities; Autosomes; Developmental Pediatrics; Newborn Medicine