Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Eye --- Diseases --- Genetic aspects.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Genetic Diseases of the Kidney provides expert insight into the role of genetic abnormalities in the pathogenesis of deranged kidney function and kidney disease. The principles of mammalian genetics are first elaborated, with special consideration given to the application of genetic analysis to clinical syndromes and diseases. Specific renal diseases are next analyzed. Monogenic disorders confined to the kidney - diseases of nephron function, renal development, and renal neoplasia - are then treated in detail in some 30 chapters. Both specific diseases - Fanconi syndrome, Bartter's

Kidneys --- Diseases --- Genetic aspects.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

This book describes everything about DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides excellent updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This edition also features a CD-ROM containing all of the figures from the book. This book is an invaluable refere

Nervous system --- Neurogenetics. --- Diseases --- Genetic aspects. --- Genetics --- Neurosciences --- Genetic aspects

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

"[This book] is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders.The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models.The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets." -- from website publisher

Mammals --- Bones --- Diseases --- Genetic aspects.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Recent advances in molecular and cellular biology have markedly changed our understanding of the heart, and this is having tremendous ramifications for the clinician. This unique reference offers a comprehensive and critical evaluation of this contribution in the field of cardiovascular molecular medicine providing the reader with a sense of new directions in which molecular medicine might be applied. It begins with a detailed primer that makes readily accessible recent molecular, genetic and cellular techniques. Rounding out the coverage of this exciting field are critical and comprenhesive d

Heart --- Diseases --- Molecular aspects. --- Genetic aspects.