Search results for: uniparental-disomy-upd-in-clinical-genetics

Uniparental Disomy UPD in Clinical Genetics

Author : Thomas Liehr
File Size : 37.89 MB
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This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Genomic Imprinting and Uniparental Disomy in Medicine

Author : Eric Engel
File Size : 56.90 MB
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Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.

Inherited Cardiac Disease

Author : Perry Elliott
File Size : 34.67 MB
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Fully updated to reflect advances in molecular genetic technologies and national guidelines on inherited cardiac diseases in families, this second edition provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system.

Brazilian Journal of Genetics

Author :
File Size : 31.11 MB
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Nature Encyclopedia of the Human Genome Renal carcinoma and von Hippel Lindau disease Zuckerkandl Emile

Author : David Neil Cooper
File Size : 43.9 MB
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Genetics in Medicine

Author : Barbara Jennings
File Size : 79.83 MB
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Written primarily for students embarking on an undergraduate bioscience degree, this primer will review the essential biological concepts that underpin any programme of more advanced study and give early-stage undergraduates the opportunity to review topics about which they may feelunder-prepared or less confident.Genetic medicine has entered an era of rapid expansion. It is no longer just relevant to families affected by rare congenital disorders, but has the potential to affect the diagnosis and treatment of most common complex diseases.The successful application of new genetic science in the decades ahead will depend on the next generation of undergraduates or university applicants, who are now planning their careers as Biologists and Clinicians.This primer explores core concepts about heredity and genome analysis, illustratescurrent clinical practice with case-histories, and discusses the potentials and pitfalls of personalised medicine.

Continued Management Concerns at the NIH

Author : United States
File Size : 80.45 MB
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Oxford Specialist Handbook Myeloproliferative Neoplasms

Author : Tariq I. Mughal
File Size : 73.21 MB
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Our understanding of myeloproliferative neoplasms (MPN) disorders has grown considerably over the past four decades. Myeloproliferative Neoplasms offers a detailed evidence-based guide to MPNs in an easily accessible format, structure to facilitate learning specialist information presenting core information in 'bite size' chunks.

Best Practice Research

Author :
File Size : 30.53 MB
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Medical Genetics

Author : Nathaniel Robin
File Size : 70.27 MB
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Nowhere in the literature is there a book that reviews the rapidly developing field medical genetics from theories to its implications for clinical practice. Nathaniel Robin's book fills that void. His new book covers the whole field of medical genetics from a general overview of the profession to details of effective treatment of patients with common and esoteric genetic disorders including birth defects, hearing loss, oro-facial clefting, craiosynostosis, and much more. Crucially, as issues surrounding breakthroughs in understanding and development of new technologies in genetics have risen to the fore of the cultural consciousness, he gives coverage to the many ethical questions raised.

Encyclopedia of Genetics Genomics Proteomics and Bioinformatics Genetics

Author : Lynn B. Jorde
File Size : 45.42 MB
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Genetic Counseling

Author :
File Size : 59.48 MB
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Abstracts in Anthropology

Author :
File Size : 44.64 MB
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Quarterly. References to journal articles, miscellaneous papers, and books, arranged under sections on archaeology, ethnology, linguistics, and physical anthropology. Cross references. Cross index.

The Year Book of Neurology and Neurosurgery 1994

Author : Walter G. Bradley
File Size : 56.50 MB
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Containing articles selected from over 900 international journals, this yearbook is devoted to neurology and neurosurgery. Topics covered include: movement disorders; demylinating diseases; behavioural neurology and dementia; neuromuscular diseases; epilepsy; and metabolic disease.

Genetics for the Health Sciences

Author : Heather Skirton
File Size : 48.67 MB
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Genetics for the Health Sciences introduces the general principles of genetics and links these to real world examples, to allow nurses, midwives, genetic counselors and doctors to apply this knowledge in their routine clinical practice.

Journal of Applied Genetics

Author :
File Size : 78.13 MB
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Genetic Disorders and the Fetus

Author : Aubrey Milunsky
File Size : 81.47 MB
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Be cool in Italian! Perfect for kids eight- to fourteen-years old, Way-Cool Italian covers the latest in kid language as it is spoken in the Italian-speaking world. Inside you will find out how kids in another country talk about their computers, how they text each other, and how they speak about their favorite music on their iPods. Includes words and phrases on topics such as numbers, greetings, weather, time, as well as the cool language you really want to know like the words for mobile phones, computers, music, comics, clothes, sports--even the Wii and avatars!

Diagnostic Techniques in Genetics

Author : Jean-Louis Serre
File Size : 22.46 MB
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Diagnostic Techniques in Genetics offers an overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics.

Genetic Disorders Sourcebook

Author : Kathy Massimini
File Size : 76.52 MB
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Presents consumer health information--gathered from sources including government reports, medical publications, and patient organizations--to help readers understand the basic causes, treatments, and health care currently available for many kinds of genetic disorders. Includes information on screening tests, lifestyle expectations, and optimal disease management through medications, diets, and physical therapy. Concludes with a directory of resources, advice about caring for children with chronic illness, and a glossary of genetic terminology. Annotation copyrighted by Book News, Inc., Portland, OR

Principles Practice of Medical Therapy in Pregnancy

Author : Louis Buttino
File Size : 57.39 MB
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The encyclopedic coverage includes all medical treatment of pregnant women, from general aspects of medical care during pregnancy to critical care and surgery in pregnancy. The third has been thoroughly revised and features a new section on medical genetics.