Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (eBook, ePUB)

Hematologic, Renal, and Immunologic Disorders
Redaktion: Pyeritz, Reed E.; Grody, Wayne W.; Korf, Bruce R.

• Format: ePub

Produktbeschreibung

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions.

With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, 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.

• Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic 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 new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions
• Includes color images supporting identification, concept illustration and method processing
• Features contributions by leading international researchers and practitioners of medical genetics
• Includes a robust companion website that offers lecture slides, image banks and links to outside resources and articles to help readers stay up-to-date on the latest developments in the field

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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 382
• Erscheinungstermin: 26. August 2022
• Englisch
• ISBN-13: 9780128126820
• Artikelnr.: 65447090

Autorenporträt

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 H

ealthcare 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.

Inhaltsangabe

Section 1 1. Hemoglobinopathies and Thalassemias 2. Other Hereditary Red Blood Cell Disorders 3. Hemophilias and Other Disorders of Hemostasis 4. Rhesus and Other Fetomaternal Incompatibilities

Section 2 5. Systemic Lupus Erythematosus 6. Rheumatoid Disease and Other Inflammatory Arthropathies 7. Amyloidosis and Other Protein Deposition Diseases 8. Immunodeficiency Disorders 9. Inherited Complement Deficiencies 10. Inflammatory Disorders 11. Celiac Disease 12. Disorders of Leukocyte Function

Section 3 13. Genetic Disorders of the Pituitary Gland 14. Thyroid Disorders 15. Parathyroid Disorders, 16. Diabetes Mellitus 17. Genetic Disorders of the Adrenal Gland 18. Disorders of the Gonads