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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

Product Description

Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

Product Description

Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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Articles include - Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors / Risky Communication: Pitfalls in Counseling about Risk, and How to Avoid Them / Information Processing in the Context of Genetic Risk: Implications for Genetic-Risk Communication / Results of an Intervention for Individuals and Famalies with BRCA Mutations: A Model for Providing Medical Updates and Psychosocial Support Following Genetic Testing / Health Beliefs and Behaviors of Women Who have Received Genetic Counseling for Breast Cancer / Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba / Parents Perceptions of Functioning in Families Having a Child with a Genetic Condition / Knowledge and Attides Towards Genetic Testing: A Two Year Follow-up Study in Patients with Asthma, Diabetes Mellitus and Cardiovascular Disease / Knowledge and Expectations of Women Undergoing Cancer Genetic Risk Assessment: A Qualitative Analysis of Free-Text Questionnaire Comments / Successful Use of Peer Educators for Sharing Genetic Information / Disclosure of Genetics Research Results after the Death of the Patient Participant: A Qualitative Study of the Impact on Relatives / What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing ... Read more

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This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to friedreich's ataxia (also familial ataxia; Friedreich's Disease; Friedreich's Tabes; hereditary ataxia of Friedreich; Hereditary Ataxia, Friedrich's Type; hereditary spinal ataxia), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on friedreich's ataxia. Given parents' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

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In this volume, leading international experts review the latest scientific and clinical observations on inherited ataxias. The book demonstrates how molecular genetic studies, as well as recent physiological, neurochemical, and clinical data, have generated new concepts on inherited ataxias, particularly on the nosology of these disorders. The opening chapters review the clinical features and classification of inherited ataxias, examine clinical and imaging correlations, describe the anatomy and physiology of cerebellar disease, and discuss the scientific and clinical relevance of neurotransmitters in the cerebellum. A major portion of the book focuses on current clinical and molecular genetic studies of various forms of inherited ataxia, including a molecular analysis of the Friedreich's ataxia locus. Experimental therapeutic observations on cerebellar grafting are presented. ... Read more

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Univ. of Bonn, Germany. Addresses basic and clinical science regarding the cerebellar disorders. For clinicians. Topics include: developmental disorders, autosomal recessive ataxias, mitochondrial disorders, autosomal dominant ataxias, transmissible spongiform encephalopathies, and more. ... Read more

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Ataxia-telangiectasia or A-T is a fatal progressiveneurological disease of children. The symptoms indicatedisruptions in the development of suchdiverse body parts ascerebellum, thymus and chromosomes. The patients areundulysensitive to ionizing radiation, immunodeficient, and athird of them develops cancer. All of this stems fromdefects of a singlegene.Provided here is an up-to-date review of all important workin thefield. A wide spectrum of topics is covered, namelygenetics, chromosome 11 mapping, radiobiology,complementation, heterozygote identification,clinicalvariants, biochemistry, and treatment of A-T. ... Read more

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In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2004. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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The occurrence of acute or late normal tissue reactions after therapeutic radiotherapy and cellular responses in in vitro radiosensitivity assays do not correlate well suggesting that to date no one test system is suitable for predicting the risk or severity of such reactions. New insights into the underlying molecular mechanisms of this sensitivity are coming from studies that assess associations between common polymorphisms in DNA damage detection and repair genes and the development of adverse reactions to radiotherapy. The presence of such variants may alter protein function and an individual's capacity to repair damaged DNA modifying the response of the normal tissue. Polymorphisms in the XRCC1, ATM, hHR21 and TGF@b1 genes have been shown to be associated with an increased risk of developing an adverse normal tissue reaction to radiotherapy, whilst one variant in the ATM gene has been reported to be radioprotective. Functional studies, taking into account either the haplotypes or the combined genotypes when multiple polymorphisms in a gene are present, will be necessary to establish the mechanistic basis of these associations. In the future association studies can only benefit from the analysis of multiple genes in large, well-characterized cohorts in particular to identify genetic factors that might specifically influence the temporal occurrence of these adverse reactions. ... Read more

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Hardbound. Considerable editorial effort was invested to make this book a companion to volume 59 that reviews the disorders of the efferent limbs, because both deal with matters in a very rapidly developing field.

The reader of this volume will be struck by three marked differences with Vol. 21 of the original HCNseries. The first - awareness of the tremendous data-increment on adult-onset autosomal-dominant OPCA over the recent years led the editors to opt for a less-rigidly conceptualized and more realistic presentation of that topic, this presentation having two obvious merits: it stays close to clinical reality, and it leaves the field wide open for the ordering principle of molecular genetics to draw the definitive lines of the frame.

The second conspicuous difference is the neuropathy-classification chapter based on the work of the WFN Research Group, and an exhaustive ataxia differential diagnosis chapter.

The third and final differenc ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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Chapters: Ataxia Telangiectasia, Fanconi Anemia, Bloom Syndrome, Nijmegen Breakage Syndrome, Chromosome Instability Syndrome. Source: Wikipedia. Pages: 35. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or LouisBar syndrome) is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects the cerebellum (the body's motor coordination control center) and also weakens the immune system in about 70% of the cases, leading to respiratory disorders and increased risk of cancer. It first appears in early childhood (the toddler stage) with symptoms such as lack of balance, slurred speech, and increased infections. Because all children at this age take time to develop good walking skills, coherent speech, and an effective immune system, it may be some years before A-T is properly diagnosed. AT is caused by a defect in the ATM gene, which is responsible for recognizing and correcting errors in duplicating DNA when cells divide, and in destroying the cells when the errors can't be corrected. The gene normally repairs double-stranded DNA breaks. So far there appear to be three forms of A-T: These are sometimes classified into types from I to IV. There are several other disorders with similar symptoms that physicians may consider when diagnosing A-T. These include: Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition that could be considered in the differential diagnosis of A-T. ATLD patients are very similar to A-T patients in showing a progressive cerebellar ataxia, hypersensitivity to ionising radiation and genomic instability . However,...More: http://booksllc.net/?id=1058672 ... Read more

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Here, an overview is given on previous research and trial endeavours to treat Friedreich's ataxia (FRDA), the most common autosomal recessive neurodegenerative disease for which there are currently no effective treatments available. This book describes the search for possible drug targets at the DNA level with an emphasis on epigenetic mechanisms. During detailed investigation of the first part of the Frataxin (FXN) gene, the presence of an RNA pol II transcriptional pausing site was evident. This may represent a crucial site for new drug development approaches and might explain the relatively poor outcomes of current drug approaches to up-regulate this gene. This book should be a valuable source of information for anyone who is interested in FRDA and its molecular mechanisms. ... Read more