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Book
Rosenberg's molecular and genetic basis of neurological and psychiatric disease.
Authors: ---
ISBN: 9780128139561 0128139560 0128139552 9780128139554 Year: 2020 Publisher: London, United Kingdom San Diego, CA, United States Cambridge, MA, United States Kidlington, Oxford, United Kingdom


Book
Emery and Rimoin's principles and practice of medical genetics
Authors: --- ---
ISBN: 0123838355 0123838347 9780123838353 9780123838346 Year: 2013 Publisher: [San Diego, California]

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Abstract

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.


Book
Transgenerational epigenetics
Author:
ISBN: 0128167335 0128163631 9780128167335 9780128163634 Year: 2019 Publisher: London

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Abstract

Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research. -- Publisher.


Book
Genomics of rare diseases
Authors: ---
ISBN: 0128201401 0128204362 9780128204368 9780128201404 Year: 2021 Publisher: London Academic Press

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Abstract

"Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism"--


Book
Emery and Rimoin's principles and practice of medical genetics and genomics.
Authors: --- ---
ISBN: 9780128126806 0128126809 9780128125328 0128125322 Year: 2020 Publisher: London


Book
Transgenerational epigenetics
Author:
ISBN: 0124059228 0124059449 9780124059221 9780124059443 Year: 2014 Publisher: Burlington Elsevier Science

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Abstract

Transgenerational Epigenetics provides a comprehensive analysis of the inheritance of epigenetic phenomena between generations. Recent research points to the existence of biological phenomena that are controlled not through gene mutations, but rather through reversible and heritable epigenetic processes. Epidemiological studies have suggested that environmental factors may be heritable. In fact, environmental factors often play a role in transgenerational epigenetics, which may have selective or adverse effects on the offspring. This epigenetic information can be transferred


Book
Emery and Rimoin's principles and practice of medical genetics and genomics
Authors: --- ---
ISBN: 012812685X 0128125373 9780128126851 9780128126844 0128126841 9780128125366 0128125365 9780128125373 9780128125342 0128126825 0128125349 9780128126820 Year: 2023 Publisher: London, United Kingdom San Diego, CA

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Abstract

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.


Periodical
European Journal of Medical Genetics
ISSN: 17697212 18780849

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Keywords

Genetics --- Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Genetic Diseases, Inborn. --- Chromosome Aberrations. --- Genetics, Medical. --- Medical genetics. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Genetics, Medical --- Cytogenetic Analysis --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- abnormalities --- Periodicals --- Health Sciences --- Pathology --- Génétique médicale --- Périodiques --- EJBIOMO EJMEDEC ELSEVIER-E EPUB-ALPHA-E EPUB-PER-FT MDGENETI --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Chromosome Aberrations --- Human genetics --- Medical sciences --- Genetic disorders --- Genetica --- Maladies génétiques. --- Aberrations chromosomiques. --- Génétique médicale. --- Génétique --- Maladies génétiques --- Aberrations chromosomiques

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