Download or read book The Hex Chromosome written by Alison Seely and published by Austin Macauley Publishers. This book was released on 2022-10-31 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: At age 13, Tina had resigned herself to being an only child. She is thrilled when her parents manage to adopt a Scottish orphan and bring her home to live with their small family in rural Ontario. Catriona is just a few months younger than Tina and seems like a perfect fit. Catriona is eager to assimilate in her new Canadian surroundings and learns to ski and swim, and quickly becomes part of a tight threesome along with Tina’s best friend Sophie. Tina’s universally disliked art teacher, Miss Plunk, and her amateur magician brother Irwin Plunk seem to take an unusually strong aversion to the orphan, and the feeling is reciprocated. Tina begins to sense that all is not completely normal with her adopted sister. She finds herself holding secrets from her parents as she and Sophie are introduced into a world of magic, adventure, and danger.
Download or read book Encyclopedia of the Neurological Sciences written by and published by Academic Press. This book was released on 2014-04-29 with total page 4744 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Encyclopedia of the Neurological Sciences, Second Edition, Four Volume Set develops from the first edition, covering all areas of neurological sciences through over 1000 entries focused on a wide variety of topics in neurology, neurosurgery, psychiatry and other related areas of neuroscience. The contributing authors represent all aspects of neurology from many viewpoints and disciplines to provide a complete overview of the field. Entries are designed to be understandable without detailed background knowledge in the subject matter, and cross-referencing and suggested further reading lead the reader from a basic knowledge of the subject to more advanced understanding. The easy-to-use 'encyclopedic-dictionary' format of the Encyclopedia of the Neurological Sciences, Second Edition features alphabetic entries, extensive cross-referencing, and a thorough index for quick reference. The wealth of information provided by these four volumes makes this reference work a trusted source of valuable information for a wide range of researchers, from undergraduate students to academic researchers. Provides comprehensive coverage of the field of neurological science in over 1,000 entries in 4 volumes "Encyclopedic-dictionary" format provides for concise, readable entries and easy searching Presents complete, up-to-date information on 32 separate areas of neurology Entries are supplemented with extensive cross-referencing, useful references to primary research articles, and an extensive index
Download or read book Molecular Structure of Human Chromosomes written by Jorge Yunis and published by Elsevier. This book was released on 2012-12-02 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Structure of Human Chromosomes is an authoritative guide to genetics, focusing on human genome. This reference compiles contributions covering available knowledge on human genome structure and organization, which the previous researches fail to encompass. This text provides a comprehensive discussion of cytogenetic techniques, emphasizing their application to human genome studies and examinations. The book is divided into nine chapters. It explains the molecular organization and function of the human genome and the DNA sequences in man. It also discusses the localization of human gene by in situ hybridization and the approaches to gene mapping. The book describes the structure of the chromosomes and the trends in chromosome techniques; banding and polymorphism; and repetitive DNA and primate evolution. Various practitioners in genetics and biology will find this book a good reference. Students and novices in these fields will also find this book an excellent guide.
Download or read book Molecular Counting written by Hei-Mun Christina Fan and published by Stanford University. This book was released on 2010 with total page 185 pages. Available in PDF, EPUB and Kindle. Book excerpt: The concept of a personal genome stems from the fact that every human genome is unique. Measuring the unique features of a personal genome would help uncover the genetic basis of diseases and traits, and would be increasingly important in clinical diagnosis especially with the growing emphasis on personalized medicine. This thesis focuses on exploring the power of molecular counting to develop novel strategies that address the inadequacy of existing technologies in measuring the unique features of a human genome. The first focus of the thesis is aneuploidy detection, which has major application in prenatal diagnosis. While karyotyping of fetal cells is well-established for detecting aneuploidy, invasive sampling of fetal materials impose a small but significant risk to the health of both the mother and the fetus. A major research focus in the field of prenatal diagnosis has been to develop a noninvasive test for detecting fetal aneuploidy. Here, the concept of single molecule counting was applied to the problem of aneuploidy detection. The concept was first tested with digital PCR on invasively collected fetal materials, and subsequently extended to the noninvasive setting by shotgun sequencing maternal plasma DNA, which contains a small amount of fetal DNA. The former work led to the development of a polymorphism-independent method for rapid invasive diagnosis of aneuploidy, while the later work marked the development of the first polymorphism-independent method for the noninvasive diagnosis of fetal aneuploidy documented in the literature. The second focus of the thesis is molecular haplotyping. Present sequencing and other molecular techniques concentrate at identifying variants at isolated locations throughout a genome but largely ignore the haplotypes formed by these variants. Direct experimental determination of the haplotypes of an individual is challenging because of the lack of techniques to separate the two highly similar homologous copies of a chromosome. Here, a whole-genome haplotyping method was devised by analyzing amplified materials from single intact chromosomes within single cells, made possible by microfluidics. Such strategy enabled, for the first time, completely deterministic measurement of personal whole-genome haplotypes. It sets the stage for the direct sequencing of the two unique haploid genomes of any individual human, which has not been achieved by any personal genomes sequenced to date, and can potentially facilitate noninvasive fetal genome sequencing.
Download or read book Gass Atlas of Macular Diseases written by Anita Agarwal and published by Elsevier Health Sciences. This book was released on 2011-12-23 with total page 1357 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Fifth Edition of Gass' Atlas of Macular Diseases, by Dr. Anita Agarwal, provides expert diagnostic guidance on macular disorders and quickly brings you up to date on this evolving specialty. Using a case-based approach, it richly depicts a full range of retina and macular diseases, including new infectious, degenerative, and dystrophic conditions. Take advantage of the latest imaging technologies to identify common and rare disorders, and confirm difficult diagnoses with the aid of more than 5,500 high-quality images. Printed in full color for the first time, this edition is accessible online at www.expertconsult.com. "... appropriate for highly ambitious residents, retina fellows and specialists, and general ophthalmologists who are looking for an excellent reference book with a proud lineage and impeccable reputation." Reviewed by ESCRS EuroTimes (European Society of Cataract and Refractive Surgery), Apr 2015 Rely on the same unique, richly illustrated case-descriptive format-encompassing history, clinical examination, and follow-up-that popularized the original book by the late Dr. Donald Gass, the famed ophthalmologist whose clinical expertise set new standards in macular diagnosis. Get expert diagnostic guidance under the new authorship of Dr. Anita Agarwal, a protégé of Dr. Gass who has compiled the ultimate collection of images and hard-to-find case studies. Evaluate macular diseases using the latest techniques including fluorescein angiography, optical coherence tomography (OCT), indocyanine green (ICG), and fundus autofluorescence. Visualize the conditions you're likely to see in practice and confirm your diagnoses by comparing your clinical findings to more than 5,500 images and illustrations (over 3,500 in full color). Search the complete text online, download the illustrations and view a bonus stereoscopic image gallery at www.expertconsult.com.
Download or read book Atlas of Metabolic Diseases Second edition written by William L Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Download or read book Thompson Thompson Genetics in Medicine written by Robert L. Nussbaum and published by Elsevier Health Sciences. This book was released on 2015-05-21 with total page 561 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. 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. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic "problems" related to what has just been reviewed, with answers provided in the back of the book. Student Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. You'll also access USMLE-style and multiple choice questions.
Download or read book Mendelian Inheritance in Man written by Victor A. McKusick and published by JHU Press. This book was released on 1998-06-29 with total page 1728 pages. Available in PDF, EPUB and Kindle. Book excerpt: The twelfth edition of this classic reference work includes: - More than 2,000 new entries - A total of more than 9,000 entries - New features and enhancement of the familiar old features - Mapping information on more than 4,000 genes of known function - Information on specific point mutations responsible for more than 700 genetic disorders or neoplasms Mendelian Inheritance in Man (MIM) is a genetic knowledgebase that serves clinical medicine and biomedical research, including the Human Genome Project. It aims to be comprehensive (not only complete, but also collated, integrated, and interpreted), authoritative (not only accurate but also sound in its interpretations and judgements), and timely (not only up-to-date but also historically dimensioned). From a review of the eleventh edition, Reproductive Toxicology: "Even the convenience of computer-based forms of MIM cannot eliminate the need for MIM in book form. The preface provides a wonderful synopsis of human genetics. The information contained in this text serves as a concise review for those with a genetics background." From a review of the tenth edition, New England Journal of Medicine: " Victor McKusick] has been for all these years the shepherd of the development of the field of clinical genetics]. Perhaps his most important pragmatic achievement has been the 10 editions of Mendelian Inheritance in Man, which rapidly became and has remained the principal source of information on inherited diseases for all clinical geneticists. "In addition to the erudite entries in the books, the references given with each description represent a magnificent bibliography of clinical genetics. With McKusick's leadership and continued interest in gene mapping, the book also rep-resents an important compen-dium of the location of genes on specific chromosomes. "The book is a magnificent security blanket for the clinical geneticist and should be in the libraries not only of these specialists, but also of all others who see patients with diseases that have genetic components."
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by JHU Press. This book was released on 2004 with total page 1266 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A topical and full summary of current practice and future developments." -- Journal of Medical Genetics "Long considered a standard reference in the area of prenatal diagnosis, this text is notable for its breadth and continues to be a readable, well-organized, comprehensive resource for clinicians in fields related to the care of the fetus and newborn." -- JAMA, reviewing a previous edition or volume
Download or read book Schizophrenia Bulletin written by and published by . This book was released on 1994 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Cultured Cell and Inherited Metabolic Disease written by R. Angus Harkness and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The use of cultured cells in the clinical diagnosis of hereditary metabolic dis ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser vation techniques have allowed the wide distribution of biochemically abnor mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives.
Download or read book Abstracts of Papers Presented at the 1988 Meeting on Intermediates in Genetic Recombination August 31 September 4 1988 written by Amar Klar and published by . This book was released on 1988 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Biology and Engineering of Stem Cell Niches written by Ajaykumar Vishwakarma and published by Academic Press. This book was released on 2017-03-22 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biology and Engineering of Stem Cell Niches covers a wide spectrum of research and current knowledge on embryonic and adult stem cell niches, focusing on the understanding of stem cell niche molecules and signaling mechanisms, including cell-cell/cell-matrix interactions. The book comprehensively reviews factors regulating stem cell behavior and the corresponding approaches for understanding the subsequent effect of providing the proper matrix molecules, mechanical cues, and/or chemical cues. It encompasses a variety of tools and techniques for developing biomaterials-based methods to model synthetic stem cell niches in vivo, or to enhance and direct stem cell fate in vitro. A final section of the book discusses stem cell niche bioengineering strategies and current advances in each tissue type. Includes the importance of Cell-Cell and Cell Matrix Interactions in each specific tissue and system Authored and edited by authorities in this emerging and multidisciplinary field Includes valuable links to 5-10 minute YouTube© author videos that describe main points
Download or read book Lysosomes written by Frederick R. Maxfield and published by John Wiley & Sons. This book was released on 2016-06-22 with total page 586 pages. Available in PDF, EPUB and Kindle. Book excerpt: Discussing recent findings, up-to-date research, and novel strategies, the book integrates perspectives from pharmacology, toxicology, and biochemistry to illustrate the potential of lysosomes in drug discovery and development. • Explores basic principles and properties of lysosomes that allow them to act as regulators of cell metabolism, therapeutic targets, and sites for activation of drug conjugates • Discusses the role of lysosomes in metabolism, drug targeting, apoptosis, cancer, aging, inflammation, autophagy, metabolism, toxicity, and membrane repair • Introduces new pathways in therapeutic development and new mechanisms in drug development
Download or read book The Phylogeny of Human Chromosomes written by H.N. Seuanez and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: The question of how man has emerged must be as old as human thought itself. However, it was not until last century that, amidst a storm of opposition and highly emotional criticism, man was first conceived as a product of evolution rather than creation. Moreover, it is not yet thirty years since the chemical composition and molecular structure of the hereditary material was fully understood or the chromosome number of man became known. It should not be surprising then, to find how little, at present, we understand how our genes and chromosomes operate, and how they have evolved during phylogeny. In this work I have discussed how our own chromosomes have been transmitted and altered as far back as we may trace their phylogeny into the past. To make the work more complete, the composition and evolution of our own genome had also to be consiered in order to understand some of the recent findings at the chromosome level. These have resulted from using methods for localizing repetitive and single copy DNA sequences in chromosomes. Moreover, the development of biochemical methods of studying evolution at the macromolecular level has not only led to a more complete understanding of the evolutionary mechanisms, but has enabled us to make comparisons with evolutionary change at the chromosome level. In addition, a simple reference to the fossil record was necessary, because impressive discoveries in recent years have supplied valuable data on man's evolution.
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Download or read book Cumulated Index Medicus written by and published by . This book was released on 2000 with total page 1764 pages. Available in PDF, EPUB and Kindle. Book excerpt:
