Category Archives: Genetics

Type 1 Diabetes Pathogenesis Genetics and Immunotherapy

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Gestational Trophoblastic Disease: Diagnostic and Molecular Genetic Pathology

In this volume Dr Hui has brought together a comprehensive overview of gestational trophoblastic disease that includes all the currently recognized entities: complete and partial hydatidiform moles, placental site trophoblastic tumor, epithelioid trophoblastic tumor, gestational choriocarcinoma, persistent gestational trophoblastic neoplasia, placental site nodule and exaggerated placental site reaction. Each entity is reviewed in detail, with emphasis on genetic background, clinical presentation, pathologic findings and ancillary studies, differential diagnosis and clinicopathological correlations.Descriptions of the pathology are supported by numerous excellent photomicrographs. Recent advances in our understanding of the genetics of gestational trophoblastic diseases are stressed. Introductory chapters cover the developmental biology of the placenta and the genetic basis of gestational trophoblastic disease, and one chapter is devoted to the molecular diagnosis of gestational trophoblastic disease. This chapter includes a review of the use of short tandem repeat (STR) genotyping which is of particular value in the diagnosis of hydatidiform moles. The final chapter covers clinical aspects of gestational trophoblastic disease, including treatment. The text throughout is current and thoroughly referenced. This book will be of great value to pathologists, community gynecologists, gynecological pathologists and medical students.

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Preimplantation Genetic Testing: Recent Advances in Reproductive Medicine

Preimplantation genetic testing (PGT) is now well established as a valuable treatment option for patients wishing to start or continue a family, for a range of indications from advanced maternal age to high risk of transmitting inherited disease. This text brings together contemporary thinking from international opinion leaders and will be an invaluable guide for practitioners in Reproductive Medicine wishing to keep pace with the latest developments and clinical data.

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Neurogenetics: A Guide for Clinicians

Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer’s disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.

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Cancer Genetics (The Biology of Cancer)

Cancer Genetics demonstrates how cancer cells differ from normal cells in structure and function. It examines specific cancer-related genes, such as oncogenes and tumor suppressor genes, and discusses inherited syndromes that are associated with cancer, including certain forms of breast cancer. New research into the human genome and the possibility that particular genes confer a susceptibility to cancer are some of the other intriguing topics examined in this book.

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Genetics for Oncologists: The Molecular Genetic Basis of Oncologic Disorders (Remedica Genetics)

During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many oncological disorders, and such information is already beginning to impact on clinical practice. This book provides oncologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic oncologic disorders. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. With its quick reference format, “Genetics for Oncologists” is designed for use by busy practitioners.
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Reverse Genetics of RNA Viruses: Applications and Perspectives

Reverse genetics, the genetic manipulation of RNA viruses to create a wild-type or modified virus, has led to important advances in our understanding of viral gene function and interaction with host cells. Since many severe viral human and animal pathogens are RNA viruses, including those responsible for polio, measles, rotaviral diarrhoea and influenza infections, it is also an extremely powerful technique with important potential application for the prevention and control of a range of human and animal viral diseases.

Reverse Genetics of RNA Viruses provides a comprehensive account of the very latest developments in reverse genetics of RNA viruses through a wide range of applications within each of the core virus groups including; positive sense, negative sense and double stranded RNA viruses. Written by a team of international experts in the field, it provides a unique insight into how the field has developed, what problems are being addressed now and where applications may lead in the future. It will prove invaluable to bioscience, medical and veterinary students, those starting research in this area as well as other researchers and teachers needing to update their knowledge of this fast-moving field.

– An authoritative, comprehensive overview of reverse genetics in RNA Viruses.

– Includes numerous examples of cutting- edge applications of reverse genetics within each of the RNA viral groups.

– Written by a team of international experts, including some of the leading researchers in the field.

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Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)

This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists–and indeed one of the top clinical geneticists–in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin’s name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
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The Genetics and Development of Scoliosis

The Genetics and Development of Scoliosisedited by Kenro Kusumi, Ph.D.Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, PhD Environmental Factors and Axial Skeletal Dysmorphogenesis Peter G. Alexander, Ph.D. and Rocky Tuan, Ph.D.Overview and Comparison of Idiopathic, Neuromuscular, and Congenital Forms of Scoliosis Benjamin Alman, M.D.Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses Peter D. Turnpenny, M.B.Ch.B.Spondylothoracic Dysostosis in Puerto Rico Alberto Santiago Cornier, M.D., Ph.D.Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis Philip F. Giampietro, M.D., Ph.D.Genetics and Functional Pathology of Idiopathic Scoliosis Nancy Hadley Miller, M.D.Current Understanding of Genetic Factors in Idiopathic Scoliosis Carol A. Wise, Ph.D. and Swarkar Sharma, Ph.D.Conclusion: Trends and Predictions for Genetic and Developmental Biological Research on Scoliosis Kenro Kusumi, Ph.D.
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Principles of Psychiatric Genetics

Disorders of behavior represent some of the most common and disabling diseases affecting humankind; however, despite their worldwide distribution, genetic influences on these illnesses are often overlooked by families and mental health professionals. Psychiatric genetics is a rapidly advancing field, elucidating the varied roles of specific genes and their interactions in brain development and dysregulation. Principles of Psychiatric Genetics includes 22 disorder-based chapters covering, amongst other conditions, schizophrenia, mood disorders, anxiety disorders, Alzheimer’s disease, learning and developmental disorders, eating disorders and personality disorders. Supporting chapters focus on issues of genetic epidemiology, molecular and statistical methods, pharmacogenetics, epigenetics, gene expression studies, online genetic databases and ethical issues. Written by an international team of contributors, and fully updated with the latest results from genome-wide association studies, this comprehensive text is an indispensable reference for psychiatrists, neurologists, psychologists and anyone involved in psychiatric genetic studies.

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