Kooperativer Bibliotheksverbund

UID:

Format: 1 online resource : , illustrations (some color)

Edition: 7th ed.

ISBN: 0-12-812684-1

Content: The Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine. Includes color images supporting identification, concept illustration, and method processing. Features contributions by leading international researchers and practitioners of medical genetics. -- Publisher

Note: Companion volume to Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Foundations / Edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019]. , A Clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The Genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective.

Additional Edition: ISBN 0-12-812536-5

Language: English

UID:

Format: 1 online resource (xiii, 737 pages) : , illustrations (chiefly color)

Edition: Seventh edition.

ISBN: 0-12-812683-3

Content: "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, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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.

Note: Disorders of the body mass -- Genetic lipodystrophies -- Amino acid metabolism -- Disorders of carbohydrate metabolism -- Disorders affecting glycosylation -- Purine and pyrimidine metabolism -- Lipoprotein and lipid metabolism -- Organic acidemias and disorders of fatty acid oxidation -- Vitamin d metabolism or action -- Inherited porphyrias -- Inherited disorders of human copper metabolism -- Iron metabolism and related disorders -- Mucopolysaccharidoses -- Lysosomal storage disorders -- Peroxisomal disorders -- Genetics of mitochondrial respiratory chain disease.

Additional Edition: ISBN 0-12-812535-7

Language: English

UID:

Format: 1 online resource (4669 p.)

Edition: Sixth edition.

ISBN: 0-12-383835-5

Content: In the three decades that have elapsed since the first edition of this book was published, the field of medical genetics has experienced explosive growth. The rate of change in the science and application of medical genetics that occurred in the period spanning the first through the fifth editions of this book has markedly accelerated. In the 1980s, genetics was viewed by most practitioners as an important but obscure corner of medicine. Now it is widely recognized that virtually all human disorders have a genetic component, and genetics is viewed as the key basic science in uncovering the mysteries of disease pathogenesis.

Note: Description based upon print version of record. , History of Medical Genetics -- Medicine in a Genetic Context -- Nature and Frequency of Genetic Disease -- Genomics and Proteomics -- Genome and Gene Structure -- Epigenetics -- Human Gene Mutation in Inherited Disease -- Genes in Families -- Analysis of Genetic Linkage -- Chromosomal Basis of Inheritance -- Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging -- Multifactorial Inheritance and Complex Diseases -- Population Genetics -- Pathogenetics of Disease -- Human Developmental Genetics -- Twins and Twinning -- The Molecular Biology of Cancer -- The Biological Basis of Aging: Implications for Medical Genetics -- Pharmacogenetics and Pharmacogenomics -- Genetic Evaluation for Common Diseases of Adulthood -- Genetic Counseling and Clinical Risk Assessment -- Cytogenetic Analysis -- Diagnostic Molecular Genetics -- Heterozygote Testing and Carrier Screening -- Prenatal Screening for Neural Tube Defects and Aneuploidy -- Techniques for Prenatal Diagnosis -- Neonatal Screening -- Therapies for Lysosomal Storage Diseases -- Gene Therapy: From Theoretical Potential to Clinical Implementation -- Ethical and Social Issues in Clinical Genetics -- Legal Issues in Genetic Medicine -- Genetics of Female Infertility in Humans -- Genetics of Male Infertility -- Fetal Loss -- A Clinical Approach to the Dysmorphic Child -- Clinical Teratology -- Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism -- Abnormal Body Size and Proportion -- Susceptibility and Response to Infection -- Transplantation Genetics -- The Genetics of Disorders Affecting the Premature Newborn -- Disorders of DNA Repair and Metabolism -- Autosomal Trisomies -- Sex-Chromosome Abnormalities -- Deletions and Other Structural Abnormalities of the Autosomes Congenital Heart Defects -- Inherited Cardiomyopathies -- Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension -- Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) -- Hereditary Disorders of the Lymphatic System and Varicose Veins -- The Genetics of Cardiac Electrophysiology in Humans -- Genetics of Blood Pressure Regulation -- Preeclampsia -- Common Genetic Determinants of Coagulation and Fibrinolysis -- Genetics of Atherosclerotic Cardiovascular Disease -- Disorders of the Venous System -- Capillary Malformation/Arteriovenous Malformation -- Cystic Fibrosis -- Genetic Underpinnings of Asthma and Related Traits -- Hereditary Pulmonary Emphysema -- Interstitial and Restrictive Pulmonary Disorders -- Congenital Anomalies of the Kidney and Urinary Tract -- Cystic Diseases of the Kidney -- Nephrotic Disorders -- Renal Tubular Disorders -- Cancer of the Kidney and Urogenital Tract -- Gastrointestinal Tract and Hepatobiliary Duct System -- Inflammatory Bowel Disease -- Bile Pigment Metabolism and Its Disorders -- Cancer of the Colon and Gastrointestinal Tract -- Hemoglobinopathies and Thalassemias -- Other Hereditary Red Blood Cell Disorders -- Hemophilias and Other Disorders of Hemostasis -- Rhesus and Other Fetomaternal Incompatibilities -- Leukemias, Lymphomas, and Other Related Disorders -- Immunologic Disorders: Genetics and Immunologic Mechanisms -- Systemic Lupus Erythematosus -- Rheumatoid Disease and Other Inflammatory Arthropathies -- Amyloidosis and Other Protein Deposition Diseases -- Immunodeficiency Disorders -- Inherited Complement Deficiencies -- Disorders of Leukocyte Function -- Genetic Disorders of the Pituitary Gland -- Thyroid Disorders -- Parathyroid Disorders -- Diabetes Mellitus -- Genetic Disorders of the Adrenal Gland -- Disorders of the Gonads, Genital Tract, and Genitalia -- Cancer of the Breast and Female Reproductive Tract -- Disorders of the Body Mass -- Genetic Lipodystrophies -- Amino Acid Metabolism -- Disorders of Carbohydrate Metabolism -- Congenital Disorders of Protein Glycosylation -- Purine and Pyrimidine Metabolism -- Lipoprotein and Lipid Metabolism -- Organic Acidemias and Disorders of Fatty Acid Oxidation -- Vitamin D Metabolism or Action -- Inherited Porphyrias -- Inherited Disorders of Human Copper Metabolism -- Iron Metabolism and Related Disorders -- Mucopolysaccharidoses -- Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses -- Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesteryl Ester Storage Disease, and Cerebrotendinous Xanthomatosis) -- Peroxisomal Disorders -- The Genetics of Personality -- Fragile X Syndrome and X-linked Intellectual Disability -- Dyslexia and Related Communication Disorders -- Attention-Deficit/Hyperactivity Disorder -- Autism Spectrum Disorders -- Genetics of Alzheimer Disease -- Schizophrenia and Affective Disorders -- Addictive Disorders -- Neural Tube Defects -- Genetic Disorders of Cerebral Cortical Development -- Genetic Aspects of Human Epilepsy -- Basal Ganglia Disorders -- The Hereditary Ataxias -- Hereditary Spastic Paraplegia -- Autonomic and Sensory Disorders -- The Phakomatoses -- Multiple Sclerosis and Other Demyelinating Disorders -- Genetics of Stroke -- Primary Tumors of the Nervous System -- Muscular Dystrophies -- Hereditary Motor and Sensory Neuropathies -- Congenital (Structural) Myopathies -- Spinal Muscular Atrophies -- Hereditary Muscle Channelopathies -- Myotonic Dystrophies -- Hereditary and Autoimmune Myasthenias -- Motor Neuron Disease -- Color Vision Defects -- Optic Atrophy -- Glaucoma -- Defects of the Cornea -- Congenital Cataracts and Genetic Anomalies of the Lens -- Hereditary Retinal and Choroidal Dystrophies -- Strabismus -- Retinoblastoma and the RB₁ Cancer Syndrome -- Anophthalmia, Microphthalmia, and Uveal Coloboma -- Hereditary Hearing Impairment -- Clefting, Dental, and Craniofacial Syndromes -- Craniosynostosis -- Abnormalities of Pigmentation -- Ichthyosiform Dermatoses -- Epidermolysis Bullosa -- Ectodermal Dysplasias -- Skin Cancer -- Psoriasis -- Cutaneous Hamartoneoplastic Disorders -- Inherited Disorders of the Hair -- Marfan Syndrome and Related Disorders -- Ehlers-Danlos Syndrome -- Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders -- Osteogenesis Imperfecta (and Other Disorders of Bone Matrix) -- Disorders of Bone Density, Volume, and Mineralization -- Chondrodysplasias -- Abnormalities of Bone Structure -- The Dysostoses -- Arthrogryposes (Multiple Congenital Contractures) -- Common Skeletal Deformities -- Hereditary Noninflammatory Arthropathies -- Pathways-Cohesinopathies -- Genes and Mechanisms in Human Ciliopathies.

Additional Edition: Print version: Rimoin, David L. Emery and Rimoin's Principles and Practice of Medical Genetics. San Diego : Elsevier Science, ©2013 ISBN 9780123838346

Language: English

UID:

Format: 1 online resource (xiii, 367 pages) : , illustrations

Edition: Seventh edition.

ISBN: 0-12-812682-5

Content: 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.

Note: Congenital Anomalies of the Kidney and Urinary Tract -- Cystic Diseases of the Kidney -- Nephrotic Disorders -- Renal Tubular Disorders -- APOL1-Associated Kidney Disease -- Hemoglobinopathies and Thalassemias -- Disorders of Hemostasis and Thrombosis -- Amyloidosis and Other Protein Deposition Diseases -- Leukemias, Lymphomas, and Plasma Cell Disorders -- Inherited Complement Deficiencies -- Heritable and Polygenic Inflammatory Disorders.

Additional Edition: ISBN 0-12-812534-9

Language: English

UID:

Format: 1 online resource (lxiii, 507 pages) : , illustrations (some color), portraits

Edition: Seventh edition.

ISBN: 0-12-812685-X , 0-12-812537-3

Uniform Title: Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. [2019]

Content: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 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 and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field 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. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. 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 practical application and serves as an invaluable clinical tool for the health professionals and researchers"--Publisher's description.

Note: Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019]. , History of medical genetics -- Medicine in a genetic context -- Precision medicine -- Nature and frequency of genetic disease -- Genome and gene structure -- Genome structure -- Epigenetics -- Human gene mutation in inherited disease: molecular mechanisms and clinical consequences -- Genes in families -- Analysis of genetic linkage -- Chromosomal basis of inheritance -- Mitochondrial medicine: the mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging -- Mitochondrial biology - split of above chapter -- Mitochondrial disorders - split of above chapter -- Multifactorial inheritance and complex diseases -- Immunologic disorders: autoimmunity: genetics and immunologic mechanisms -- Population genetics -- Pathogenetics of disease -- Twins and twinning -- The biological basis of aging: implications for medical genetics -- Pharmacogenetics and pharmacogenomics.

Language: English

UID:

Format: 1 online resource (xv, 577 pages) : , illustrations (some color)

Edition: Seventh edition.

ISBN: 0-12-812680-9

Note: Section 1. Congenital heart defects -- Inherited cardiomyopathies -- Heritable and idiopathic forms of pulmonary arterial hypertension -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) -- Hereditary disorders of the lymphatic system and varicose veins -- The genetics of cardiac electrophysiology in humans -- Arteriopathy -- Genetics of blood pressure regulation -- Common genetic determinants of coagulation and fibrinolysis -- Genetics of atherosclerotic cardiovascular disease -- Disorders of the venous system -- Capillary malformation/arteriovenous malformation -- Section 2. Cystic fibrosis -- Genetic underpinnings of asthma and related traits -- Hereditary pulmonary emphysema -- LAM -- Interstitial and restrictive pulmonary disorders -- Section 3. Congenital anomalies of the kidney and urinary tract -- Cystic diseases of the kidney -- Nephrotic disorders -- Renal tubular disorders -- Section 4. Gastrointestinal tract and hepatobiliary duct system -- Inflammatory bowel disease -- Bile pigment metabolism and its disorders.

Additional Edition: ISBN 0-12-812532-2

Language: English

UID:

Format: 1 online resource (320 pages) : , illustrations

Edition: Seventh edition.

ISBN: 0-12-815237-0

Note: Introduction to perinatal disorders and reproductive genetics -- Prenatal screening for neural tube defects and aneuploidy -- Techniques for prenatal diagnosis -- Neonatal screening -- Hypogonadotropic and hypergonadotropic hypogonadism in females: disorders of reproductive ducts -- Genetics of male infertility -- The genetics of disorders affecting the premature newborn -- Fetal loss -- Preeclampsia -- Noninvasive prenatal testing and noninvasive prenatal screening -- Preimplantation genetic testing -- Expanded carrier screening.

Additional Edition: ISBN 0-12-815236-2

Language: English

UID:

Format: 1 Online-Ressource : , Illustrationen, Diagramme.

Edition: 6th ed.

ISBN: 978-0-12-383835-3 , 0-12-383835-5

Note: Includes bibliographical references. - For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders

Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-0-12-383834-6

Language: English

URL: Volltext

Author information: Korf, Bruce R. 1944-

UID:

Format: 1 Online-Ressource : , Illustrationen, Diagramme.

Edition: 6th ed.

ISBN: 978-0-12-383835-3 , 0-12-383835-5

Note: Includes bibliographical references. - For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders

Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-0-12-383834-6

Language: English

URL: Volltext

URL: Volltext

URL: Volltext

Author information: Korf, Bruce R. 1944-

UID:

Format: 1 online resource (xiii, 737 pages) : , illustrations (chiefly color)

Edition: Seventh edition.

ISBN: 0-12-812683-3

Content: "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, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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.

Note: Disorders of the body mass -- Genetic lipodystrophies -- Amino acid metabolism -- Disorders of carbohydrate metabolism -- Disorders affecting glycosylation -- Purine and pyrimidine metabolism -- Lipoprotein and lipid metabolism -- Organic acidemias and disorders of fatty acid oxidation -- Vitamin d metabolism or action -- Inherited porphyrias -- Inherited disorders of human copper metabolism -- Iron metabolism and related disorders -- Mucopolysaccharidoses -- Lysosomal storage disorders -- Peroxisomal disorders -- Genetics of mitochondrial respiratory chain disease.

Additional Edition: ISBN 0-12-812535-7

Language: English