| Description |
1 online resource (819 pages) |
| Contents |
Intro; Title Page; Copyright Page; Contents; List of Contributors; Preface; About the Companion Website; Chaptert 1 Genetics and Genomics; Introduction; Basic Concepts in Human Genetics and Genomics; Genes and Chromosomes; Regulation of Gene Expression; RNA Editing; Classes of RNA Molecules and their Functions; MicroRNAs, Small Interfering RNAs, and Piwi-interacting RNAs; LncRNAs; Other Small ncRNA Classes; Gene Mutations and Inheritance; Classes of Gene Mutations; Patient and Family History; Mendelian Inheritance Patterns; Non-Mendelian Inheritance Patterns |
|
Common Disorders with Complex Inheritance PatternsUniparental Disomy; Penetrance and Expressivity; Human Populations and Genetic Variation; Overview of Human Genetic Variation; Allele Frequencies Differ in Different Populations; Copy Number Variation (CNV); Epigenetics; Epigenetic Mechanisms; Genomic Imprinting; Transgenerational and Multigenerational Epigenetic Inheritance; Advances in Genomic Analysis; Familial Linkage Analysis and GWAS Studies; Advances in Nucleic Acid Sequencing; NGS Protocols; Whole Genome (WGS) and Whole Exome Sequencing (WES); Establishing Variant Causality |
|
Dissecting Pathogenic from Non-Pathogenic VariantsGenome Editing as a Powerful Tool for Establishing Causality; The Age of Precision Medicine; Clinical Guidelines; Acknowledgments; Further Reading; Chaptert 2 Measuring Hormones; Introduction; Hormone Assays; Assay Validity; Technical Pitfalls when Measuring Hormones; Clinical Assay Validity; Stimulation Tests, Suppression Tests and Profiles; Optimal Clinical Use of Hormone Tests; Acknowledgements; References; Chaptert 3 Fetal Endocrinology; Introduction; Transplacental Passage of Hormones; Development of Fetal Endocrine Systems |
|
Pituitary Development (see also Chapter 5)Adrenal Development; Thyroid Development; Gonadal Development; Disorders of Sex Development (see Chapter 4); Development of the Fetal Autonomic Nervous System; Development of the Endocrine Pancreas; Development of Pancreatic Endocrine Function; Development of the Parathyroid/Calcitonin System; Endocrine Regulation of Fetal Growth; Neutralization of Hormone Activity in the Fetus; Limitation of Hormone Secretion; Production of Inactive Hormone Metabolites; Delayed Expression or Neutralization of Receptor Response; Plasticity of Fetal Endocrine Systems |
|
Fetal Adaptations for Transition to Extrauterine LifeCortisol; Catecholamines; Thermogenesis; Calcium Homeostasis; Glucose Homeostasis; Other Endocrine Adaptations; Frontiers in Fetal and Neonatal Endocrinology; References; Chaptert 4 Disorders of Sex Development; Normal Sex Development; Terminology; Causes of DSD; Impaired Gonadal Development; XY Individuals; XX individuals; Numerical Abnormalities of the Sex Chromosomes; Disturbances of Testicular Hormone Production or Action; Impaired Biosynthesis; Impaired Testosterone Action; Virilization of an XX Individual; Management of DSD |
| Notes |
Initial Evaluation and Diagnostic Approach |
|
Print version record |
| Subject |
Pediatric endocrinology.
|
|
Pediatric endocrinology
|
| Form |
Electronic book
|
| Author |
Brook, Charles G. D
|
| ISBN |
9781119152699 |
|
1119152690 |
|
