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Author: Eric Engel
Publisher: John Wiley & Sons
ISBN: 0471459135
Category : Medical
Languages : en
Pages : 303
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Book Description
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.
Author: Eric Engel
Publisher: John Wiley & Sons
ISBN: 0471459135
Category : Medical
Languages : en
Pages : 303
Get Book Here
Book Description
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.
Author: Thomas Liehr
Publisher: Springer
ISBN: 3642552889
Category : Medical
Languages : en
Pages : 201
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Book Description
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.
Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650
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Book Description
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.
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: Anna Maria Giuffrida Stella
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 504
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Book Description
Offers an up-to-date account of the latest research findings concerned with the regulatory mechanisms of gene expression in neuronal and glial cells under different conditions. The book explores the cellular and neurobiological aspects of important phenomena of the nervous system and its role in health, disease and injury. Contributions from prominent scientists in the field address a variety of specific topics concerned with gene expression in the nervous system--from growth, hormonal and trophic factors to neural tissue reactions in injury or aging.
Author: Trygve Tollefsbol
Publisher: Academic Press
ISBN: 0123884160
Category : Medical
Languages : en
Pages : 617
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Book Description
Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs
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: David Haig
Publisher: Rutgers University Press
ISBN: 9780813530277
Category : Science
Languages : en
Pages : 244
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Book Description
Genomic imprinting allows scientists to trace genes to the parent of origin. This volume presents a collection of 13 papers by David Haig (organisimic and evolutionary biology, Harvard U.) on genomic imprinting. He argues that our paternally and maternally active genes do not work in cooperation with each other and in fact are in competition. Each paper is followed by commentary by the author, providing background information and discussing developments since its publication. Annotation copyrighted by Book News Inc., Portland, OR.
Author: Merlin Butler
Publisher: Springer Science & Business Media
ISBN: 0387335366
Category : Medical
Languages : en
Pages : 569
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Book Description
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Author: Thomas F. Baskett
Publisher: Cambridge University Press
ISBN: 1108386199
Category : Medical
Languages : en
Pages : 545
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Book Description
Few specialties have a longer or richer eponymous background than obstetrics and gynaecology. Eponyms add a human side to an increasingly technical profession and represent the historic tradition and language of the speciality. This collection aims to perpetuate the names and contributions of pioneers and offer introductory profiles to the founders in whose steps we follow. This third edition includes 26 new entries, as well as expanded detail, illustration and quotation for existing entries. Biographical data and historical and medical context are discussed for each of the 391 names, with reference to 34 countries, reflecting the field's far reaching origins. More than 1700 original references feature, alongside an extensive bibliography of more than 2500 linked references to assist readers searching for more detailed information. This is a volume for physicians, midwives, medical historians, medical ethicists and all those interested in the history and evolution of obstetrical and gynaecological treatment.
