Воронеж: Воронежский государственный медицинский университет им. Н.Н. Бурденко, 2023. — 179 с. Настоящее учебное пособие посвящено актуальным вопросам нейрогенетики, в нем представлены теоретические вопросы организации наследственного материала, классификация наследственных болезней, современные методы медицинской генетики. Подробно изложены современные подходы к диагностике,...
Academic Press, 2024. — 665 p. 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...
Springer, 2024. — 264 p. Preface Basic Epigenetic Mechanisms Introduction Chromatin Structure and the Nucleosome Regulatory Elements and Transcription Factors Histone Variants Histone Modifications Histone Acetylation Lysine Acetyltransferases (KATs, Writers) and Histone Deacetylases (HDACs, Erasers) CBP/p300, a KAT Involved in Integrating Signal Transduction Pathways KAT8 and...
Elsevier, 2023. — 279 p. Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line...
Pearson India, 2024. — 372 p. Foreword Preface About the Author Nature, Principles and Perspectives of Heredity Introduction Career Focus Introduction to Prokaryotic and Eukaryotic Cell Cell Division An Overview of the Cell Cycle The Mechanics of Cell Division Mitosis in Detail Meiosis Characteristics and Structure of DNA and Chromosomes—DNA Packaging and Chromosome...
Springer, 2024. — 283 p. Preface About the Editors and Contributors About the Editors Contributors Introduction to Rare Genetic Disorders Techniques for the Diagnosis of Rare Genetic Disorders Prenatal Screening and Counseling for Rare Genetic Disorders Disease Models for Rare Genetic Disorders Research and Clinical Approaches to Undiagnosed Rare Genetic Disorders Drug...
Morgan & Claypool, 2016. — 138 p. This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY...
Springer, 2023. — 489 p. This updated and expanded volume gives new insights on ferroptosis – an iron-dependent form of non-apoptotic cell death. The collection of chapters discusses the two major pathways through which ferroptosis can occur: the extrinsic or transporter-dependent pathway and the intrinsic or enzyme-regulated pathway. Readers will gain an understanding of the...
New York: Nova Science Publishers, Incorporated, 2009. — 295 p. Sex chromosomes determine the sex of an organism. A human somatic cell has two sex chromosomes: XY in male and XX in female. A human germ cell has one sex chromosome: X or Y in a sperm and X in an egg. When an X-sperm is combined with an egg, the resulting zygote (fertilised egg) will contain two X chromosomes. A...
Chichester: Wiley, 2014. — 499 p. MicroRNAs and toxicology MicroRNAs and disease states MicroRNAs and stem cells MicroRNAs and genomics MicroRNAs and epigenomics MicroRNAs and biomarkers.
8th edition. — Elsevier, 2022. — 1086 p. Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific...
Academic Press, 2002. — 547 p. ''...this is without a doubt one of the best comprehensive and up-to-date reviews of any complex group of condition, each written by an expert in a particular disorder. Any neurologist or neuroscientist involved in the field should have a copy for reference.'' -NEUROMUSCULAR DISORDERS (March 2003) ''...a particularly nice feature of this book is...
Springer, 2020. — 544 p. This book offers a comprehensive and detailed overview of various aspects of long non-coding RNAs. It discusses their emerging significance in molecular medicine, ranging from human cancers to cardiovascular and metabolic diseases. Transcriptomic studies have demonstrated that the majority of genomes found in complex organisms are expressed in highly...
Singapore: Springer, 2022. — 338 p. This book provides the latest research progress on genome editing in cardiovascular and metabolic diseases and includes bioinformatics research methodology of genome editing. Genome editing is a genetic engineering technique precisely modified specific target genes of organism genome, which has been applied to basic theoretical research and...
New York: Wiley-Blackwell, 2022. — 189 p. Basics and Terminology Answers Basics and terminology Commentary Physical Examination Answers Commentary Clinical Diagnosis and Manifestations of Specific Conditions Answers Commentary Causes of Genetic Conditions and Laboratory and Testing Approaches Answers Commentary Management of Genetic Conditions and Therapeutics Answers...
Cambridge: Cambridge University Press, 2022. — 201 p. The behavioral issues experienced by individuals with Prader-Willi Syndrome (PWS) can be both surprising and overwhelming to clinicians and caregivers. Despite the distress and dysfunction posed by them, there are very few resources available to address these neuropsychiatric problems. This invaluable guidebook helps to...
Монография. — Томск: Печатная мануфактура, 2009. — 148 с. — ISBN 978-5-94476-172-9. В монографии рассмотрены вопросы взаимосвязи апоптоза и окислительного стресса при остром воспалении. Особое внимание уделено роли редокс-чувствительных сигнальных систем мононуклеарных лейкоцитов крови в реализации программированной гибели при окислительном стрессе. Полученные данные являются...
М.: Академкнига, 2005. — 408 с. Книга написана выдающимися российскими учеными, специалистами в области медицинской генетики, геномики, молекулярной биологии и молекулярной медицины. Среди основных тем книги такие общие проблемы как стратегия идентификации генов наследственных заболеваний, молекулярные основы моногенных болезней, современные методы молекулярно-цитогенетического...
Cham: Springer, 2021. — 364 p. This book provides an introduction to the analysis of stochastic dynamic models in biology and medicine. The main aim is to offer a coherent set of probabilistic techniques and mathematical tools which can be used for the simulation and analysis of various biological phenomena. These tools are illustrated on a number of examples. For each example,...
Cham: Springer, 2022. — 214 p. This book covers some of the most novel genetic and genomic concepts in epidemiology, such as geospatial statistics and systems biology from a clinical point of view by explaining molecular applications with accessible human studies. Featuring a comprehensive table of contents, it includes chapters from genomics and epidemiology surveillance to...
New York: Springer, 2021. — 145 p. Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read...
New York: Nova Science, 2018. — 451 p. List of Contributors Mitochondrial Medicine Mitochondrial Physiology Mitochondrial Free Radicals and Antioxidants Chronobiology of Mitochondria Mitochondrial Modulation of the Epigenome and the Emergence of Cardiometabolic Diseases Mitochondrial Diseases Mitochondrial DNA Mitochondrial Neurology Autism Spectrum Disorder and Mitochondrial...
2nd edition. — New York: Academic Press, 2017. — 639 p. Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition,provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather...
New York: Springer, 2021. — 240 p. Various “omics” methods have recently revolutionized molecular diagnostics. Next-generation sequencing (NGS) makes it possible to sequence a human genome in just one day. Whole genome sequencing (WGS) greatly improves the ability to investigate the outbreaks of numerous pathogens. Metagenomics helps to analyze the microbiome, which aids...
Boca Raton: CRC Press, 2000. — 701 p. The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists...
London: Routledge, 2008. — 403 p. With the first patent being granted to “BiDil,” a combined medication that is deemed to be most effective for a specific “race,” African-Americans for a specific form of heart failure, the on-going debate about the effect of the older category of race has been renewed. What role should “race” play in the discussion of genetic alleles and...
London: Routledge, 2013. — 256 p. While some theorists argue that medicine is caught in a relentless process of ‘geneticization’ and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct...
Boca Raton: CRC Press, 2007. — 357 p.
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently...