For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
Les mer
PART I Connective Tissue Disorders 1. Marfan Syndrome Reed E. Pyeritz 2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders Qiaoli Li and Jouni Uitto 3. Disorders of Bone Density, Volume, and Mineralization Reed E Pyeritz 4. Chondrodysplasias Clair A. Francomano PART II Dermatologic Disorders 5. Abnormalities of Pigmentation Reed E. Pyeritz 6. Ichthyosiform Dermatoses Howard P. Baden, John J. DiGiovanna, Keith A. Choate, and Caroline M. Echeandia-Francis 7. Epidermolysis Bullosa Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto 8. Ectodermal Dysplasias Dorothy Katherine Grange 9. The Genetics of Skin Cancer Reed E. Pyeritz 10. Genetics of Psoriasis Johann E. Gudjonsson and James T. Elder 11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub_e (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) Katherine L. Nathanson 12. Inherited Disorders of the Hair Eunice Y. Lee, Mazen Kurban, and Angela M. Christiano PART III Endocrinologic Disorders 13. Genetic Disorders of the Adrenal Gland Reed E. Pyeritz 14. Genetic Disorders of the Pituitary Gland Reed E. Pyeritz 15. Thyroid Disorders Michel Polak and Gabor Szinnai 16. Diabetes Mellitus Reed E. Pyeritz PART IV Skeletal Disorders 17. Common Skeletal Deformities Reed E. Pyeritz 18. Hereditary Noninflammatory Arthropathies Mariko L. Ishimori 19. Abnormalities of Bone Structure Reed E. Pyeritz 20. Osteogenesis Imperfecta and Other Disorders of Bone Matrix Reed E. Pyeritz
Les mer
In-depth discussion of medical genetics and genomics as applied to ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders
Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and specialist medical practitioners
Les mer

Produktdetaljer

ISBN
9780128125311
Publisert
2024-11-20
Utgave
7. utgave
Utgiver
Vendor
Academic Press Inc
Vekt
1570 gr
Høyde
235 mm
Bredde
191 mm
Aldersnivå
P, UP, 06, 05
Språk
Product language
Engelsk
Format
Product format
Innbundet
Antall sider
694

Om bidragsyterne

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 from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).