Product Description
This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians.The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike.This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.

The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions.Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders.All references have been updated as well as support group information and website resources. ... Read more

Product Description
McGill Univ., Montreal, Canada. Discusses normal gonadal and sexual development and clinical issues common to genetic abnormalities. Details causes by genetics, endocrinologic, and systemic-metabolic. For geneticists, endocrinologists, urologists, and advanced students. DNLM: Gonadal Disorders--genetics. ... Read more

Product Description
Many professionals in the communicative sciences are relative newcomers to the understanding of genetics as it applies to communicative disorders. A speech-language clinician certainly can diagnose and treat stuttering, for example, but that clinician may not be fully aware of the role of a genetic counselor for the family of a stutterer. An audiologist may be able to assess a hearing impairment, but an understanding of the underlying genetics of that impairment would make that person a better audiologist. The medical geneticist, similarly, could have an inadequate appreciation of how our genes may affect language function. All of these professionals need a source that brings together essential ideas from related disciplines.
This is a book about human communication, both normal and disordered, and how our communication abilities are affected by our genes. Many, probably most, communicative disorders are of genetic origin, even if not exclusively genetic. A knowledge of genetics, therefore, is essential to our understanding of communication, of communicative disorders, of how such disorders come about, and of how to deal with them.
This is the only book to consider the genetics of communicative disorders from a broad perspective. It examines genetics, embryology, and epidemiology, along with study of the hearing, speech, and language disorders themselves. It also introduces review of issues relevant to genetic counseling and ethics. It is a unique and comprehensive work whose contributors are the leading experts in their respective disciplines.

* Only book available to consider all communicative disorders
* Unparalleled scrutiny of the sciences basic to the genetics of communicative disorders
* Specific attention paid to clinical and ethical issues ... Read more

Product Description
This important Handbook presents the latest research and practical knowledge about a broad range of disorders with a genetic component that affect children's learning, behavior, and development. The book demonstrates the difference that well-planned interventions and accommodations can make in the health and functioning of children with mild to severe neurodevelopmental impairment. Chapters offer in-depth discussions of specific disorders, including learning disabilities, ADHD, Tourette syndrome, anxiety disorders, pervasive developmental disorders, and numerous less frequently encountered conditions. Current research on etiologies is reviewed, neurodevelopmental, psychosocial, and medical implications are considered, and practical suggestions are provided for assessment and clinical management.
... Read more

Customer Reviews (2)

Brief Review
This book was very useful.It is a simple handbook and the last person's review was very precise.Good handbook for starting research.

Review: Handbook of Neurodevelopmental and Genetic Disorders
The Handbook of Neurodevelopmental and Genetic Disorders in Children, edited by Sam Goldstein Ph.D. and Cecil Reynolds Ph.D. is a well written, in depth discussion of the impact of genetics on the neurodevelopment of children.

The book is divided into three parts.The first addresses the role of neuropsychology in the assessment and treatment of children with neurodevelopmental and genetic disorders.The second part concerns five disorders with genetic etiologies that primarily affect learning and behavior: learning disabilities, ADHD, Tourette syndrome, anxiety disorders and autism.The final part deals with 14 less common disorders which have genetic etiologies and physical/medical manifestations, as well as effects on learning and behavior: Turner Syndrome, Fragile X Syndrome, Mucopolysaccharidoses, Noonan Syndrome, Neurofibromatosis, Sickle Cell Disease, Down Syndrome, Klinefelter Syndrome, Phenylketonuria, Rett Syndrome, Lesch-Nyhan Syndrome, Seizure Disorders, Prader-Willi Syndrome and Williams Syndrome.Each of the chapters on specific disorders discusses the current understanding of the genetic etiology of the disorders, behavioral and developmental manifestations, and guides to assessment.

The book will serve the purposes of many people.Those wanting to do research on a disease can find a quick history on the research and the issues which remain outstanding.Those interested in clinical issues can find clear descriptions, diagnostic considerations and treatment recommendations.All will benefit by learning about the genetic bases, incidence and comorbidity of the various diseases. ... Read more

Product Description
Genetic syndromes and neurodevelopmental disorders that have a genetic basis are associated with cognitive and academic disabilities. Genes, Brain and Development reviews the connections between genes, brain, and behavior for a range of genetic disorders, and also considers lifespan and treatment issues. The content further explores what is known about development in neurogenetic disorders, particularly in the domains of language and mathematics, and shows how this knowledge is pertinent to understanding both these specific disorders, and disorders of language and math more generally. This will be essential reading for a wide range of brain scientists and developmental clinicians, including neuropsychologists, cognitive psychologists, neurologists, psychiatrists, pediatricians, neuroscientists and geneticists. ... Read more

Product Description
This encyclopaedia provides data and qualified clinical information on genetic disorders. It is reckoned that one in ten babies born throughout the world suffer a genetic disease or birth defect, and, if so-called "late-onset" genetic disorders are counted, six in ten can be considered to suffer from some form of genetically-influenced disorder. The encyclopaedia's aim is to provide concise information in A to Z format for practitioners, researchers and concerned individuals alike. It covers all statistically significant afflictions, their original identification and "history", information on prognosis, availability of prenatal detection, biochemical and molecular bases, discussion of the various diagnostic and screening techniques and data on risk groups and mutogenic agents. All the genetic terminology necessary for a full understanding of the subject is defined, and each entry reflects contemporary published research in its field. ... Read more

Customer Reviews (1)

Definitive, authoritative, reliable, complete reference.
Now in a fully updated and expanded second edition, The Encyclopedia OfGenetic Disorders And Birth Defects offers fifty new entries including thelatest facts on genetic terminology, revised entries which reflect thelatest research, and extensive bibliographies which provide all needed forfurther, in-depth research. The Encyclopedia Of Genetic Disorders And BirthDefects is an excellent, definitive, authoritative and reliable all-in-onereference which provides the very latest health information. ... Read more

Product Description
This book describes the causes, course, and treatment of a variety of developmental and genetic disorders, including attention-deficit disorder, Fragile X syndrome, and the autistic spectrum disorders. The volume places a particular focus on the course of disorders over time and outcome in adulthood. As well as providing succinct and up-to-date summaries of the most recent research, the authors give clinicians practical guidelines for intervention and management with children and young adults. ... Read more

Product Description
Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia?

The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases.

Features:
* Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work.

* Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system

* Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases

* Genetic counselors offer expert advice on how to use genetic information in counseling patients

Benefits:
* Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discussand diagnose endocrine diseases

* Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles.
Correct diagnosis (and therefore correct treatment) of endocrine diseases depends on a strong understanding of the molecular basis for the disease - both endocrinologists and geneticists will benefit

* Endocrinologists will learn which genetic tests to ask for and which genes should be evaluated for each specific endocrine disease

* Endocrinologists will gain insight into which medications to use based on the genetic make-up of a patient

* Endocrinologists and geneticists will learn the best strategies and most effective use of genetic information in the patient counselling setting - not something that is taught in most medical or graduate schools ... Read more

Product Description
Arab populations have their “own” genetic disorders, both universal and particular.Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes.The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders.The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses. ... Read more

Product Description
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor.  Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals.  Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism. ... Read more

Customer Reviews (2)

Outstanding Book
"...a real pleasure for anyone with an interest in the skeleton and associated tissues...outstanding book..." (New England Journal of Medicine, May 29, 2003)

Essential Book
"The second edition...has been vastly expanded...a welcome addition to the library of the medical geneticist and is essential for workers in the connective tissue field..." (The American Journal of Human Genetics, February 2003) ... Read more

Product Description
This book provides professionals with the latest and most reliable information about genetic disorders and emphasises the advantage of a life-span multidisciplinary approach. The maturation of the brain, the environmental experiences and the mastery of developmental challenges and task are considered in order to understand how persons with genetic disorders and intellectual disability progress throughout their life-span from infancy to old age. The book utilises a developmental perspective and reviews different genetics disorders associated with intellectual disabilities (Down Syndrome, Nance Horan Syndrome, 10p deletion), with focus mainly at the developmental history.It also provides useful indications for support to children and adults with developmental disabilities regarding education and other best practices like family supports and cognitive enrichment programs. A brief introduction to intelligence provides an overview of topical intelligence research and theory, in terms that can be integrated with the results and theory of neuropsychology.Case studies are proposed in each chapter to highlight specific diagnostic and treatment issues and to discuss the facilitation of transitions throughout the life-span from infancy to maturity and old age. Focusing developmental features for addressing the etiological diagnosis and comparing brain development and mind/brain interactions among neurogenetic syndromes is the promising approach to understand neurodevelopment underlined throughout the book. ... Read more

Product Description
In this book, geneticist and science policy expert Doris Teichler Zallen explains clearly and sympathetically how genetic disorders are passed along in families; which hereditary disorders can be tested for using genetic technology; how the new DNA tests for genetic disorders work; what genetic tests can and can't reveal, and why the tests often do not give clear-cut answers; what questions one should ask doctors and genetic counselors; how the health care system, government policies, and insurance companies influence our options; and what the resources are for obtaining more information and counseling. Through the stories of real families and the choices they made about genetic testing, Zallen helps readers think through their own alternatives and discuss them with relatives. Does it Run in the Family? is essential reading for every family coping with inherited medical conditions and for the medical and genetics professionals involved in their decisions. It will also interest all readers who seek a clear explanation of the new DNA tests and the issues surrounding them. ... Read more

Customer Reviews (1)

Great help
this book helped me a lot with my project on gene therapy.I hope it helps you too.

Ezekiel ... Read more

Product Description
Defective genes are responsible for an estimated 4,000 hereditary disorders. Children inherit these disorders from their parents in many different ways. While biomedical researchers have now identified most genes associated with genetic diseases, there are no absolute cures for these diseases today. Scientific advances have enabled affected people to experience longer and more comfortable lives, because they and their families have more beneficial means of coping with genetic disorders.

This second edition Sourcebook provides new and updated information to help laypeople understand the working of genes, the ethics of gene testing, and the causes and treatments of some of the most common genetic disorders. The book also covers the lifestyle expectations of individuals who suffer with these disorders, their disease management and care, and current research initiatives to prevent and cure gene defects. A glossary of genetic terminology and a directory of resources provide additional support and information. ... Read more

Product Description
This stimulating book bridges the gap between molecular biologyand human genetics. Specifically written for medical students andhumangeneticists, it is a valuable guide to a rapidly moving field. ... Read more

Customer Reviews (1)

Revise and update!
I give this book two stars for its relevence to molecular medicine, however, I give it one additional star because it is a diamond in the rough. If the authors/editor/publisher revised and updated this useful, potentially authoritative work of applied molecular medicine, it would serve resourcefully as a reference and bench tool. Even as a pre-HGP work, many of the concepts and techniques covered here are still relevant to today's research in molecular medicine. However, one can easily see the behemoth task of revising this book.

It MUST be revised and updated on technical knowledge of treatment modalities and molecular therapies, to include: applied RNAi, real-time PCR diagnostics, applied laser microdissection, gene microarray therapy, conceptual signal transduction determinants of genetic disorders, signal transduction methods, genetic epidemiology and genetic counseling, neurobiologic disorders, etc., and other contemporary concepts and tools useful to molecular medicine. For the fact that the title reads "...Molecular biology and human genetic disorders," the update should also include an insightful look at genetic diseases treatable by molecular techniques.

This book has potential, but at the listed price as it is currently written, its of little use and it completely misses the mark with respect to the title. You may not find a book with all the attributes I have listed above, but you can definitely find something better then (paperback) "Genes in Medicine." Stay away from this one.

Dear authors: update and revise. Period. ... Read more

Product Description
This symposium volume provides a topical survey of some of the most recent and significant progress in human genetics, as revealed by new advances in gene technology. The first half consists of contributions from the invited speakers; the major topics covered are oncogenes, translocations and gene activation, mechanisms of gene activation, the major histocompatibility loci, human genetic organisation and, finally, hybridisation, immunological and enzymic techniques. A novel feature of these reports is the inclusion, in the second half of the book, of short papers arising from poster sessions. Invited contributions and poster sessions together provide a thorough and timely record of an important subject. ... Read more