Human Ring Chromosomes PDF Download
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Author: Peining Li
Publisher: Springer Nature
ISBN: 3031475305
Category :
Languages : en
Pages : 520
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Book Description
Author: Peining Li
Publisher: Springer Nature
ISBN: 3031475305
Category :
Languages : en
Pages : 520
Get Book Here
Book Description
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
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Book Description
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. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
Author: Thomas Liehr
Publisher: Springer Science & Business Media
ISBN: 3642207669
Category : Medical
Languages : en
Pages : 233
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Book Description
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.
Author: Patrick John Morrison
Publisher: Remedica
ISBN: 1901346692
Category : Medical
Languages : en
Pages : 237
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Book Description
Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).
Author: Rolf-Dieter Wegner
Publisher: Springer Science & Business Media
ISBN: 3642599184
Category : Medical
Languages : en
Pages : 464
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Book Description
Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.
Author: K.V. Chaitanya
Publisher: CRC Press
ISBN: 1000824497
Category : Science
Languages : en
Pages : 345
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Book Description
Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.
Author: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729
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Book Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Author:
Publisher:
ISBN: 9780815332183
Category : Cells
Languages : en
Pages : 0
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Book Description
Author: Albert Schinzel
Publisher: Walter de Gruyter GmbH & Co KG
ISBN: 311232904X
Category : Medical
Languages : en
Pages : 936
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Book Description
No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
Author: Andrew L. Folpe, MD
Publisher: Elsevier Health Sciences
ISBN: 0443066884
Category : Medical
Languages : en
Pages : 477
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Book Description
Bone and Soft Tissue Pathology: A Volume in the Diagnostic Pathology Series, by Andrew L. Folpe, MD and Carrie Y. Inwards, MD, packs today's most essential bone and soft tissue pathology know-how into a compact, high-yield format! The book's pragmatic, well-organized approach-complemented by abundant full-color, high-quality illustrations and at-a-glance tables-makes it easy to access the information you need to quickly and accurately identify pathology specimens. Best of all, Expert Consult functionality provides online access to the full text of the book, downloadable illustrations for your personal use, and more. The result is a practical, affordable reference for study and review as well as for everyday clinical practice. Includes access to the complete contents online, fully searchable, downloadable illustrations for your personal use, and more, allowing you to consult the text a quick, convenient manner. Reviews normal histology before examining abnormal findings, enabling you to conveniently compare their characteristics in one place at one time. Covers both neoplastic and non-neoplastic conditions of bone and soft tissue to equip you to meet a wide range of diagnostic challenges. Uses a consistent, user-friendly format to explore each entity's clinical features, pathologic features (gross and microscopic), ancillary studies, differential diagnoses, and prognostic and therapeutic considerations...making it easy to locate specific information on a particular entity. Features abundant boxes and tables throughout that enhance the presentation and accessibility of the material. Offers nearly 1,000 full-color, high-quality illustrations that demonstrate the key features of a wide variety of pathologic lesions to facilitate greater accuracy in identification of specimens. The Foundations in Diagnostic Pathology Series answers the call for fresh, affordable, and easy-to-use guidance. Each region-specific volume provides all of the most essential information on the pathologic entities encountered in practice. Series Editor: John R. Goldblum, MD, FACP, FASCP, FACG Your purchase entitles you to access the web site until the next edition is published, or until the current edition is no longer offered for sale by Elsevier, whichever occurs first. Elsevier reserves the right to offer a suitable replacement product (such as a downloadable or CD-ROM-based electronic version) should access to the web site be discontinued.
