The Hex Chromosome

The Hex Chromosome PDF Author: Alison Seely
Publisher: Austin Macauley Publishers
ISBN: 1638296707
Category : Young Adult Fiction
Languages : en
Pages : 275

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Book Description
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.

The Hex Chromosome

The Hex Chromosome PDF Author: Alison Seely
Publisher: Austin Macauley Publishers
ISBN: 1638296707
Category : Young Adult Fiction
Languages : en
Pages : 275

Get Book Here

Book Description
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.

Molecular Counting

Molecular Counting PDF Author: Hei-Mun Christina Fan
Publisher: Stanford University
ISBN:
Category :
Languages : en
Pages : 185

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Book Description
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.

Molecular Structure of Human Chromosomes

Molecular Structure of Human Chromosomes PDF Author: Jorge Yunis
Publisher: Elsevier
ISBN: 0323154832
Category : Medical
Languages : en
Pages : 349

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Book Description
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.

Encyclopedia of the Neurological Sciences

Encyclopedia of the Neurological Sciences PDF Author:
Publisher: Academic Press
ISBN: 0123851580
Category : Medical
Languages : en
Pages : 4744

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Book Description
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

Atlas of Metabolic Diseases Second edition

Atlas of Metabolic Diseases Second edition PDF Author: William L Nyhan
Publisher: CRC Press
ISBN: 0340809701
Category : Medical
Languages : en
Pages : 801

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Book Description
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.

Thompson & Thompson Genetics in Medicine

Thompson & Thompson Genetics in Medicine PDF Author: Robert L. Nussbaum
Publisher: Elsevier Health Sciences
ISBN: 1437706967
Category : Medical
Languages : en
Pages : 561

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Book Description
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.

Biochemistry of Insects

Biochemistry of Insects PDF Author: Morris Rockstein
Publisher: Elsevier
ISBN: 0323143725
Category : Science
Languages : en
Pages : 666

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Book Description
Biochemistry of Insects reviews the state of knowledge in insect biochemistry. The book begins by examining the function of carbohydrates in regulating and maintaining the life processes of insects. This is followed by separate chapters on the functional roles of lipids and proteins in insects; and protein synthesis in insects. Subsequent chapters cover the chemistry of insect cuticle; the structure, distribution, and chemistry of insect biochromes; and chemical control of insect behavior. Also discussed are the biochemical aspects of the natural products used by insects in defensive contexts; the reaction of insecticides and related compounds with their targets; detoxification mechanisms in insects; and genetic variation in natural populations. Designed to serve as a basic textbook in field, this volume should be equally useful as an auxiliary text for most relevant courses in insect biology, particularly insect physiology, insect ecology, insect control, and economic entomology. The book should also serve as an important reference source for the advanced student, the research scientist, and the professional entomologist seeking authoritative details of relevant areas of subject matter.

Mendelian Inheritance in Man

Mendelian Inheritance in Man PDF Author: Victor A. McKusick
Publisher: JHU Press
ISBN: 9780801857423
Category : Health & Fitness
Languages : en
Pages : 1728

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Book Description
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."

Gass' Atlas of Macular Diseases

Gass' Atlas of Macular Diseases PDF Author: Anita Agarwal
Publisher: Elsevier Health Sciences
ISBN: 143771580X
Category : Medical
Languages : en
Pages : 1357

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Book Description
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.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus PDF Author: Aubrey Milunsky
Publisher: JHU Press
ISBN: 9780801879289
Category : Fetus
Languages : en
Pages : 1266

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Book Description
"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