Genetic Disorders of the Indian Subcontinent

The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics.

Author: Dhavendra Kumar

Publisher: Springer Science & Business Media

ISBN: 9781402022319

Category: Medical

Page: 608

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The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.
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Genomics and Health in the Developing World

INDIAN SUBCONTINENT 923 Ishwar C. Verma and Dhavendra Kumar GENETIC

Author: Dhavendra Kumar

Publisher: Oxford University Press

ISBN: 9780195374759

Category: Medical

Page: 1501

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This book is designed to be the first major text to discuss advances in medical genetics in the developing world.
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Genetic Disorders Among Arab Populations

Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs.

Author: Ahmad S. Teebi

Publisher: Oxford University Press, USA

ISBN: 0195093054

Category: Medical

Page: 499

View: 532

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Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
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Laboratory Medicine in India An Issue of Clinics in Laboratory Medicine E Book

Genetic disorders of the Indian subcontinent. Dordrecht: Kluwer Academic
Publishers; 2004. p.171–84. Ghosh S, Bhaumik P, Ghosh P, et al. Chromosome
21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of
incidence ...

Author: T. F. Ashavaid

Publisher: Elsevier Health Sciences

ISBN: 9781455744121

Category: Medical

Page: 261

View: 850

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This issue of Clinics in Laboratory Medicine on the topic of Laboratory Medicine in India will be Guest Edited by Tester F. Ashavaid, PhD, FACB, CSCi, and include the following article topics: Tuberculosis; Malaria; STIs and Dengue; Visceral Leishmaniasis; Neglected Tropical Diseases; Hepatitis; HIV; Diabetes; Cardiovascular diseases; Stroke; HPV / Cervical screening; Multiple congenital anomalies; Down Syndrome/Thalessemia; Muscle dystrophy; Spinal muscular atrophy; Wilson Disease; Hemophilia; National and International Accreditation; Blood Banking regulations; Distant Testing; Clinical Trials; Medical Tourism; International Reference labs; and Diagnostics in diet.
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Issues in CNS Diseases and Disorders 2011 Edition

A report, 'Indian-subcontinent NBIA: unusual phenotypes, novel PANK2
mutations, and undetermined genetic forms,' is newly published data in
Movement Disorders. “Neurodegeneration with brain iron accumulation (NBIA) is
etiologically, ...


Publisher: ScholarlyEditions

ISBN: 9781464965913

Category: Medical

Page: 722

View: 288

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Issues in CNS Diseases and Disorders / 2011 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about CNS Diseases and Disorders. The editors have built Issues in CNS Diseases and Disorders: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about CNS Diseases and Disorders in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Issues in CNS Diseases and Disorders: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at
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Illustrated Textbook of Paediatrics E Book

metabolic. disorders. 25 434 Environment 100% 0 Autoimmune islet cell
destruction Genes. Diabetes mellitus 433 ... positive family history, not as prone
to ketosis, commoner in some ethnic groups (e.g. Indian subcontinent) • Type 3.

Author: Tom Lissauer

Publisher: Elsevier Health Sciences

ISBN: 9780723437093

Category: Medical

Page: 552

View: 430

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Winner of the 2012 British Medical Association book awards' first prize in the paediatrics category! This is the fourth edition of a highly popular 'must have textbook for paediatrics for medical students'. The previous edition has been translated into eight languages and also won British Medical Association and Royal Society of Medicine prizes for the best paediatrics textbook. Case studies throughout Online access through StudentConsult Concise, synoptic, clinically-focused Highly accessible colour-coded layout Comprehensive and authoritative New section on child protection New section on global paediatrics Over fifty new images Thoroughly revised and updated throughout
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Medicine and Surgery E Book

Thalassaemias are genetic disorders characterized by reduced rate of synthesis
of the alpha or beta globin chains. ... are particularly common in the
Mediterranean region, Africa, the Middle East, the Indian subcontinent and South
East Asia.

Author: Eric KS Lim

Publisher: Elsevier Health Sciences

ISBN: 9780702040146

Category: Medical

Page: 1000

View: 337

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This is a stunning new hybrid textbook that has evolved as a direct response to the increasing integration of the two disciplines of medicine and surgery in today's medical curricula. The advantage of this combined approach is it reduces the amount of reading by the elimination of repetition (and inconsistencies) to provide an integrated explanation of the common problems faced both by students during exams and clinicians in daily practice. This book's greatest asset is the ability to illustrate that medical and surgical treatment options are actually part of a continuum in the management of disease. An integrated textbook combining the two major clinical specialities of general medicine and general surgery. Written and edited by a team of physicians and surgeons supported by a team of specialist subject advisors. Puts medicine and surgery in the context of the continuum of disease management and outlines a comprehensive and structured approach to patient management. Adopts a current evidence-based approach with extensive use of national and international guidelines. A full colour textbook with innovative design features and illustrations.
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Emery s Elements of Medical Genetics E Book

Table 20.5 Autosomal Recessive Disorders Suitable for Population Carrier
Screening Indian subcontinent and Mediterranean countries This page
intentionally left blank. (p. 152). Even in Western countries with good medical
facilities, ...

Author: Peter D Turnpenny

Publisher: Elsevier Health Sciences

ISBN: 9780702045059

Category: Science

Page: 464

View: 240

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Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.
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Consanguinity in Context

Given these core beliefs, in broaching the topic of genetic disease, it is important
that attention is paid to the religious, ... and the Indian subcontinent, there are
prevalent folk beliefs in the power of the 'evil eye' — the casting of a spell by a ...

Author: Alan H. Bittles

Publisher: Cambridge University Press

ISBN: 9781107376939

Category: Science


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An essential guide to this major contemporary issue, Consanguinity in Context is a uniquely comprehensive account of intra-familial marriage. Detailed information on past and present religious, social and legal practices and prohibitions is presented as a backdrop to the preferences and beliefs of the 1100+ million people in consanguineous unions. Chapters on population genetics, and the role of consanguinity in reproductive behaviour and genetic variation, set the scene for critical analyses of the influence of consanguinity on health in the early years of life. The discussion on consanguinity and disorders of adulthood is the first review of its kind and is particularly relevant given the ageing of the global population. Incest is treated as a separate issue, with historical and present-day examples examined. The final three chapters deal in detail with practical issues, including genetic testing, education and counselling, national and international legislation and imperatives, and the future of consanguineous marriage worldwide.
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Sociology in Perspective

Genetic factors Genetic arguments focus on the inherited disorders that seem to
affect some groups in particular, such as ... Thalassaemia is another blood
disorder found in people mainly from the Middle East and the Indian subcontinent

Author: Mark Kirby

Publisher: Heinemann

ISBN: 0435331604

Category: Sociology

Page: 831

View: 923

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This text, specifically for AQA specifications, is designed to be easy and encouraging for students to use. The book contains updated material and activities together with a new chapter on study skills. It also indicates clearly where activities meet the new evidence requirements for key skills.
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Health and Ethnicity

and. population. genetics. The sickling disorders The sickling disorders are
distributed throughout tropical Africa, parts of ... variant and has an extremely
high frequency in eastern parts of the Indian subcontinent, Burma, Thailand,
Cambodia, ...

Author: Helen Macbeth

Publisher: CRC Press

ISBN: 0415241677

Category: Medical

Page: 272

View: 960

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It is becoming increasingly apparent that certain diseases occur at higher frequencies in different ethnic groups (e.g. Afro-Carribeans and sickle-cell anaemia). The causes for such differences are only just being investigated and the factors involved are clearly both genetic and non-genetic. The biological complexity lies in the interaction of genetic variation and lifestyle differences. Cultural differences range from diet to traditional remedies, from religious beliefs to marriage patterns and much more. This multidisciplinary volume discusses these factors, with contributions from geneticists, medics, anthropologists, epidemiologists and social scientists. Anyone considering variation in health experience due to ethnic factors would be enriched by reading the different perspectives presented in this volume.
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Chromosomes To Genome

Peopling of the Indian subcontinent is the result of several historical migrations,
and this had a significant bearing to the extent ... Genetic differences between
people of populations are responsible for their variable susceptibility to disease,

Author: Rakesh K. Mishra

Publisher: I. K. International Pvt Ltd

ISBN: 9789380026213

Category: Chromosomes

Page: 222

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Increasing number of complete genome sequences in the past decade has enhanced our understanding of chromosomal basis of genetic inheritance to molecular level. Chromosomes to Genome presents the historical perspective as well as the current state of this journey from chromosomes to genome. The book presents complex topics in a simplified manner that is accessible to any student of biology. Each chapter provides a historical account of the field and reviews the recent work in this area, puts the subject in appropriate perspective and makes reading enjoyable. The book provides genomic account of evolutionary history of emergence of complexity from simple living systems. It also gives glimpses of intricate regulatory mechanisms that act on genomic information during differentiation of different cell types. Each chapter is written by well-known practising scientists leading very active and competitive groups engaged in unravelling the secrets hidden in the complex trail of DNA double helix in the immensely dense forest of eukaryotic nucleus. Availability of large number of genomes and emergence of new technologies has boosted the speed and scale of research chromosome biology and genomics to an unprecedented level. Each chapter reflects this dynamic and exciting aspect. From how genome is packaged within the nucleus to bring out complexity of eukaryotic gene regulation to how when anything goes wrong with this process disease conditions set in, this book covers landmark aspects of modern biology of genetic inheritance. While it serves as valuable reference for experts as well as students in the file of molecular and cytogenetics and genomics, the book is also accessible to those with more general interest in biology.
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Blood Cells

... designated hereditary spherocytosis is actually a heterogeneous group of
disorders [93]. Hereditary spherocytosis occurs in various ethnic groups including
Caucasian, North African, Indian subcontinent and Japanese subjects and rarely
in ...

Author: Barbara J. Bain

Publisher: John Wiley & Sons

ISBN: 9781118817292

Category: Medical

Page: 504

View: 467

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Enables both the haematologist and laboratory scientist to identify blood cell features, from the most common to the more obscure Provides essential information on methods of collection, blood film preparation and staining, together with the principles of manual and automated blood counts Completely revised and updated, incorporating much newly published information: now includes advice on further tests when a specific diagnosis is suspected 400 high quality photographs to aid with blood cell identification Highlights the purpose and clinical relevance of haematology laboratory tests throughout
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Thompson Thompson Genetics in Medicine E Book

Thus, μ = sq/3 For an X-linked genetic lethal disease, s = 1 and one third of all
copies of the mutant gene responsible is lost ... 10%, in western Europe and
Russia and declines to a few percent in the Middle East and the Indian

Author: Robert L. Nussbaum

Publisher: Elsevier Health Sciences

ISBN: 9781437700930

Category: Medical

Page: 600

View: 712

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Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.
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Brenner and Rector s The Kidney E Book

See Foot processes. inherited disorders of, 1575–1579 measurement of, 1023
nephron loss and, 1935 ... 2776 ethylene glycol,629–630, 2417–2420,2418f,
2776 in Indian subcontinent, 2776 extracorporeal therapy for, 2411 in children,
2686 ...

Author: Maarten W. Taal

Publisher: Elsevier Health Sciences

ISBN: 9781455723041

Category: Medical

Page: 3064

View: 519

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Overcome the toughest clinical challenges in nephrology with the new 9th edition of Brenner/Rector’s The Kidney! A brand-new editorial team of Drs. Maarten W. Taal, Glenn M. Chertow, Philip A. Marsden, Karl Skorecki, Alan S. L. Yu, and Barry M. Brenner,, together with a diverse list of international contributors bring you the latest knowledge and best practices on every front in nephrology worldwide. Brand-new sections on Global Considerations in Nephrology and Pediatric Nephrology, as well as new chapters on recent clinical trials, cardiovascular and renal risk prediction in chronic kidney disease, identification of genetic causes of kidney disease, and many others, keep you at the forefront of this rapidly growing, ever-changing specialty. Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. Broaden your knowledge base with expert, dependable, comprehensive answers for every stage of your career from the most comprehensive, definitive clinical reference in the field! Prepare for certification or recertification with a review of the basic science that underpins clinical nephrology as well as a comprehensive selection of the most important bibliographical sources in nephrology. Visually grasp and better understand critical information with the aid of over 700 full-color high-quality photographs as well as carefully chosen figures, algorithms, and tables to illustrate essential concepts, nuances of clinical presentation and technique, and decision making. Get internationally diverse, trusted guidance and perspectives from a team of well-respected global contributors, all of whom are at the top and the cutting edge of your field. A new editorial team headed by Dr. Taal and hand-picked by Dr. Brenner ensures the ongoing adherence to previous standards of excellence. Access information quickly thanks to a new, reorganized format and supplemental figures, tables, additional references, and expanded discussions. Keep current with the rapid development of care and research worldwide. A new section, "Global Considerations", focuses on regions outside Europe and North America. Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. Improve therapy and outcomes for children with renal disease. New to this edition, "Pediatric Nephrology" addresses renal pathologies that usually present in childhood and covers topics such as Maturation of Kidney Structure and Function; Fluid; Electrolyte and Acid-Base Disorders in Children; Diseases of the Kidney and Urinary Tract in Children; Dialysis in Children; and Kidney Transplantation in Children. Stay up to date with all the latest clinical information including recent clinical trials, genetic causes of kidney disease, and cardiovascular and renal risk prediction in chronic kidney disease.
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Molecular Pathology of Hematolymphoid Diseases

Inherited hemoglobin disorders, prevalent in many parts of the world, including
Southeast Asia, the Middle East, the Mediterranean, the Indian subcontinent,
Africa and the Caribbean constitute the most common human single gene
disorders, ...

Author: Cherie H. Dunphy

Publisher: Springer Science & Business Media

ISBN: 1441956980

Category: Medical

Page: 620

View: 982

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The past two decades have seen an ever-accelerating growth in knowledge about molecular pathology of human diseases, which received a large boost with the sequencing of the human genome in 2003. Molecular diagnostics, molecular targeted therapy and genetic therapy, are now routine in many medical centers. The molecular field now impacts every field in medicine, whether clinical research or routine patient care. There is a great need for basic researchers to understand the potential clinical implications of their research whereas private practice clinicians of all types (general internal medicine and internal medicine specialists, me- cal oncologists, radiation oncologists, surgeons, pediatricians, family practitioners), clinical investigators, pathologists and medical laboratory directors and radiologists require a basic understanding of the fundam- tals of molecular pathogenesis, diagnosis, and treatment for their patients. Traditional textbooks in molecular biology deal with basic science and are not readily applicable to the medical setting. Most medical textbooks that include a mention of molecular pathology in the clinical s- ting are limited in scope and assume that the reader already has a working knowledge of the basic science of molecular biology. Other texts emphasize technology and testing procedures without integrating the clinical perspective. There is an urgent need for a text that fills the gap between basic science books and clinical practice. In the Molecular Pathology Library series, the basic science and the technology is integrated with the medical perspective and clinical application.
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The New Genetics and Clinical Practice

This study provides clear evidence that genetic diseases put a serious burden on
the health services . ... of the Indian subcontinent and Southeast Asia the
inherited blood diseases will emerge as a very serious public health problem ,
once the ...

Author: D. J. Weatherall

Publisher: Oxford University Press, USA

ISBN: UOM:39015010663360

Category: Abnormalities, Human

Page: 206

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In the last few years, dramatic advances in molecular biology have made it possible to analyze human genes directly, providing new insights into human molecular pathology and leading to techniques used for such procedures as the prenatal diagnosis of genetic disorders. Written for nonspecialists by an internationally-known expert, the second edition provides not only a clear introduction to the new genetics but also an in-depth consideration of the impact this technology may have on the future practice of medicine. Weatherall describes recombinant DNA techniques and outlines how they are used to analyze genes; reviews what is known about the molecular pathology of human genetic diseases and about acquired disorders like cancer; and assesses how these methods might be used for preventive genetics and gene therapy. Heavily illustrated in two colors, this book will interest physicians, nurses, and counsellors, particularly in obstetrics, pediatrics, general practice and community health.
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Huntington s Disease

INDIA AND WESTERN ASIA The sole estimate of HD prevalence among South
Asians results from the study of Shiwach ... a higher prevalence rate in the Indian
subcontinent, given genetic similaries to European populations and the possible

Author: Gillian Bates

Publisher: Oxford University Press

ISBN: 9780199370474

Category: Medical

Page: 558

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This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: · Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages · The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines · Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry · The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology · An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.
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Trends in Molecular Anthropology

itted , hout From the anthropological and population genetics perspective Indian
subcontinent is most attractive ... 9 papers review the status of knowledge on the
molecular genetic etiology of a number of complex genetic disorders like ...

Author: B. Mohan Reddy


ISBN: UOM:39015081854567

Category: Human molecular genetics

Page: 245

View: 601

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Robbins Cotran Pathologic Basis of Disease E Book

These frequently manifest as the hand-foot syndrome or dactylitis of the bones of
the hands or feet, or both. ... tropical Africa, the Indian subcontinent, and Asia,
and in aggregate are among the most common inherited disorders of humans.

Author: Vinay Kumar

Publisher: Elsevier Health Sciences

ISBN: 9781437721829

Category: Medical

Page: 1464

View: 262

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One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book you likely purchased as a medical student that still provides answers now that you're in practice. The new PROFESSIONAL EDITION is the same "who's who" of pathology experts that delivers the most dependable, current, and complete coverage of today's essential pathology knowledge, now enhanced with PERKS DESIGNED SPECIALLY FOR YOU AS A PRACTITIONER. Masterful editing and a practical organization make learning or reinforcing every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology at its core. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work
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