Chromosome Abnormalities and Genetic Counseling

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Author :
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

ISCN 2013

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Author :
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318022535
Total Pages : 148 pages
Book Rating : 4.3/5 (18 download)

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Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature

Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Small Supernumerary Marker Chromosomes (sSMC)

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3642207669
Total Pages : 233 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis Small Supernumerary Marker Chromosomes (sSMC) by : Thomas Liehr

Download or read book Small Supernumerary Marker Chromosomes (sSMC) written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Chromosomal Variation in Man

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 9780471833369
Total Pages : 0 pages
Book Rating : 4.8/5 (333 download)

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Book Synopsis Chromosomal Variation in Man by : Digamber S. Borgaonkar

Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

In the Light of Evolution

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Author :
Publisher : Sackler Colloquium
ISBN 13 :
Total Pages : 388 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis In the Light of Evolution by : National Academy of Sciences

Download or read book In the Light of Evolution written by National Academy of Sciences and published by Sackler Colloquium. This book was released on 2007 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.

Genetics of Endocrine Diseases and Syndromes

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Publisher : Springer Nature
ISBN 13 : 3030259056
Total Pages : 476 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Practical Surgical Neuropathology: A Diagnostic Approach E-Book

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Author :
Publisher : Elsevier Health Sciences
ISBN 13 : 0323508669
Total Pages : 640 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Practical Surgical Neuropathology: A Diagnostic Approach E-Book by : Arie Perry

Download or read book Practical Surgical Neuropathology: A Diagnostic Approach E-Book written by Arie Perry and published by Elsevier Health Sciences. This book was released on 2017-10-16 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Part of the in-depth and practical Pattern Recognition series, Practical Surgical Neuropathology, 2nd Edition, by Drs. Arie Perry and Daniel J. Brat, helps you arrive at an accurate CNS diagnosis by using a pattern-based approach. Leading diagnosticians in neuropathology guide you from a histological (and/or clinical, radiologic, and molecular) pattern, through the appropriate work-up, around the pitfalls, and to the best diagnosis. Almost 2,000 high-quality illustrations capture key neuropathological patterns for a full range of common and rare conditions, and a "visual index" at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. Instructive algorithms provide detailed guidance based on 8 major (scanning magnification) patterns and 20 minor (high magnification) patterns – helping you narrow the range of diagnostic possibilities. A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables, charts, and graphs so you can quickly and easily find what you are looking for. Sweeping content updates keep you at the forefront of recent findings regarding gliomas, embryonal neoplasms, meningiomas, pituitary region and pineal tumors, epilepsy pathology, peripheral nerve sheath tumors, neurodegenerative disorders, tumor predisposition syndromes, and much more. Improved pattern call-outs are now linked directly within the chapter, reinforcing the patterns for more efficient and complete understanding.

Genes, Chromosomes, and Disease

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Author :
Publisher : FT Press
ISBN 13 : 0132623242
Total Pages : 353 pages
Book Rating : 4.1/5 (326 download)

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Book Synopsis Genes, Chromosomes, and Disease by : Nicholas Wright Gillham

Download or read book Genes, Chromosomes, and Disease written by Nicholas Wright Gillham and published by FT Press. This book was released on 2011-03-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.

MRCOG Part One

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Publisher : Cambridge University Press
ISBN 13 : 1107667135
Total Pages : 557 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis MRCOG Part One by : Alison Fiander

Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.

Concepts of Biology

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Publisher :
ISBN 13 : 9789888407453
Total Pages : 618 pages
Book Rating : 4.4/5 (74 download)

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Book Synopsis Concepts of Biology by : Samantha Fowler

Download or read book Concepts of Biology written by Samantha Fowler and published by . This book was released on 2018-01-07 with total page 618 pages. Available in PDF, EPUB and Kindle. Book excerpt: Concepts of Biology is designed for the single-semester introduction to biology course for non-science majors, which for many students is their only college-level science course. As such, this course represents an important opportunity for students to develop the necessary knowledge, tools, and skills to make informed decisions as they continue with their lives. Rather than being mired down with facts and vocabulary, the typical non-science major student needs information presented in a way that is easy to read and understand. Even more importantly, the content should be meaningful. Students do much better when they understand why biology is relevant to their everyday lives. For these reasons, Concepts of Biology is grounded on an evolutionary basis and includes exciting features that highlight careers in the biological sciences and everyday applications of the concepts at hand.We also strive to show the interconnectedness of topics within this extremely broad discipline. In order to meet the needs of today's instructors and students, we maintain the overall organization and coverage found in most syllabi for this course. A strength of Concepts of Biology is that instructors can customize the book, adapting it to the approach that works best in their classroom. Concepts of Biology also includes an innovative art program that incorporates critical thinking and clicker questions to help students understand--and apply--key concepts.

Reproductive Genetics

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Author :
Publisher : RCOG
ISBN 13 : 1906985162
Total Pages : 245 pages
Book Rating : 4.9/5 (69 download)

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Book Synopsis Reproductive Genetics by : Sean Kehoe

Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Cytogenetic Abnormalities

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Publisher : John Wiley & Sons
ISBN 13 : 1118412567
Total Pages : 672 pages
Book Rating : 4.1/5 (184 download)

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Book Synopsis Cytogenetic Abnormalities by : Susan Mahler Zneimer

Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Textbook of Human Reproductive Genetics

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Publisher : Cambridge University Press
ISBN 13 : 100919772X
Total Pages : 255 pages
Book Rating : 4.0/5 (91 download)

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Book Synopsis Textbook of Human Reproductive Genetics by : Stéphane Viville

Download or read book Textbook of Human Reproductive Genetics written by Stéphane Viville and published by Cambridge University Press. This book was released on 2022-12-31 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book combines genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.

Current Topics in Membranes

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Publisher : Academic Press
ISBN 13 : 9780080585109
Total Pages : 453 pages
Book Rating : 4.5/5 (851 download)

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Book Synopsis Current Topics in Membranes by :

Download or read book Current Topics in Membranes written by and published by Academic Press. This book was released on 1992-01-08 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current Topics in Membranes

Catalogue of Unbalanced Chromosome Aberrations in Man

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Author :
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 311232904X
Total Pages : 936 pages
Book Rating : 4.1/5 (123 download)

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Book Synopsis Catalogue of Unbalanced Chromosome Aberrations in Man by : Albert Schinzel

Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by Walter de Gruyter GmbH & Co KG. This book was released on 2020-10-26 with total page 936 pages. Available in PDF, EPUB and Kindle. Book excerpt: No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".

Health Risks from Exposure to Low Levels of Ionizing Radiation

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Publisher : National Academies Press
ISBN 13 : 0309133343
Total Pages : 422 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Health Risks from Exposure to Low Levels of Ionizing Radiation by : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation

Download or read book Health Risks from Exposure to Low Levels of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.

The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment

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Author :
Publisher : The Experiment, LLC
ISBN 13 : 1615191658
Total Pages : 345 pages
Book Rating : 4.6/5 (151 download)

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Book Synopsis The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment by : Jessica Wapner

Download or read book The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment written by Jessica Wapner and published by The Experiment, LLC. This book was released on 2014-04-08 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of The Wall Street Journal’s 10 Best Nonfiction Books of the Year Philadelphia, 1959: A scientist scrutinizing a single human cell under a microscope detects a missing piece of DNA. That scientist, David Hungerford, had no way of knowing that he had stumbled upon the starting point of modern cancer research— the Philadelphia chromosome. It would take doctors and researchers around the world more than three decades to unravel the implications of this landmark discovery. In 1990, the Philadelphia chromosome was recognized as the sole cause of a deadly blood cancer, chronic myeloid leukemia, or CML. Cancer research would never be the same. Science journalist Jessica Wapner reconstructs more than forty years of crucial breakthroughs, clearly explains the science behind them, and pays tribute—with extensive original reporting, including more than thirty-five interviews—to the dozens of researchers, doctors, and patients with a direct role in this inspirational story. Their curiosity and determination would ultimately lead to a lifesaving treatment unlike anything before it. The Philadelphia Chromosome chronicles the remarkable change of fortune for the more than 70,000 people worldwide who are diagnosed with CML each year. It is a celebration of a rare triumph in the battle against cancer and a blueprint for future research, as doctors and scientists race to uncover and treat the genetic roots of a wide range of cancers.