Neurofibromatosis Type 1

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Publisher : Springer Science & Business Media
ISBN 13 : 3642328644
Total Pages : 711 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.

The Molecular Biology of Neurofibromatosis Type 1

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Author :
Publisher : Biota Publishing
ISBN 13 : 1615046453
Total Pages : 81 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis The Molecular Biology of Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book The Molecular Biology of Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Biota Publishing. This book was released on 2014-02-01 with total page 81 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.

Molecular Genetics of Neurofibromatosis Type 1

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (127 download)

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Book Synopsis Molecular Genetics of Neurofibromatosis Type 1 by : Ming Hong Shen

Download or read book Molecular Genetics of Neurofibromatosis Type 1 written by Ming Hong Shen and published by . This book was released on 1995 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Molecular Genetics of Neurofibromatosis Type 1 (NF1).

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Publisher :
ISBN 13 :
Total Pages : 286 pages
Book Rating : 4.:/5 (87 download)

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Book Synopsis Molecular Genetics of Neurofibromatosis Type 1 (NF1). by : Claudia Consoli

Download or read book Molecular Genetics of Neurofibromatosis Type 1 (NF1). written by Claudia Consoli and published by . This book was released on 2006 with total page 286 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cardiovascular Genetics and Genomics

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Publisher : Springer
ISBN 13 : 3319661140
Total Pages : 921 pages
Book Rating : 4.3/5 (196 download)

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Book Synopsis Cardiovascular Genetics and Genomics by : Dhavendra Kumar

Download or read book Cardiovascular Genetics and Genomics written by Dhavendra Kumar and published by Springer. This book was released on 2018-01-17 with total page 921 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Neurofibromatosis Type 1

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Publisher : Garland Science
ISBN 13 : 9781859961919
Total Pages : 230 pages
Book Rating : 4.9/5 (619 download)

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Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Garland Science. This book was released on 1998 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 is a common inherited neurogenetic disorder affecting one in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation, and abnormalities of the cardiovascular, renal and endocrine systems. Beginning with an overview of what is known about the disease, this text goes on to provide information on developments and clinical implications.

Neurofibromatoses

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Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805585209
Total Pages : 203 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Neurofibromatoses by : Dieter Kaufmann

Download or read book Neurofibromatoses written by Dieter Kaufmann and published by Karger Medical and Scientific Publishers. This book was released on 2008 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with.This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.

Molecular Genetics of Type 1 Neurofibromatosis

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Publisher :
ISBN 13 : 9789061867326
Total Pages : 112 pages
Book Rating : 4.8/5 (673 download)

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Book Synopsis Molecular Genetics of Type 1 Neurofibromatosis by : Rina Wu

Download or read book Molecular Genetics of Type 1 Neurofibromatosis written by Rina Wu and published by . This book was released on 1996-10-01 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Multidisciplinary Approach to Neurofibromatosis Type 1

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Publisher : Springer Nature
ISBN 13 : 3319924508
Total Pages : 316 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Multidisciplinary Approach to Neurofibromatosis Type 1 by : Gianluca Tadini

Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.

Neurofibromatosis Type 1

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Publisher :
ISBN 13 : 9789090112091
Total Pages : 181 pages
Book Rating : 4.1/5 (12 download)

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Book Synopsis Neurofibromatosis Type 1 by : Marjon Hester Cnossen

Download or read book Neurofibromatosis Type 1 written by Marjon Hester Cnossen and published by . This book was released on 1997 with total page 181 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Atlas of Inherited Retinal Diseases

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Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Atlas of Inherited Retinal Diseases by : Stephen H. Tsang

Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Neurofibromatosis

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Publisher :
ISBN 13 :
Total Pages : 344 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Neurofibromatosis by : Vincent M. Riccardi

Download or read book Neurofibromatosis written by Vincent M. Riccardi and published by . This book was released on 1986 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive review of the clinical and genetic aspects of a disease that affects over one million people worldwide, based on the cumulative experience of the longest continuously functioning program of its kind (Riccardi directs The Neurofibromatosis Institute, Pasadena, California--his vantage point is that of an accumulated 3,700 patient-years of direct observation and follow-up of patients with NF, and a total of 22,900 patient-years, counting from the time of birth until either death or January 1991). Thoroughly revised and updated (first edition, 1986) to include the latest advances in molecular biology and methods of treatment, and contains a glossary and extensive bibliography (well over 1,000 citations). Annotation copyrighted by Book News, Inc., Portland, OR

Molecular and genetic characterization of the neurofibromatosis type 1 gene

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Publisher :
ISBN 13 :
Total Pages : 114 pages
Book Rating : 4.:/5 (917 download)

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Book Synopsis Molecular and genetic characterization of the neurofibromatosis type 1 gene by : SiuIng The

Download or read book Molecular and genetic characterization of the neurofibromatosis type 1 gene written by SiuIng The and published by . This book was released on 1996 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Molecular and genetic characterization of the neurofibromatosis type 1 gene

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Publisher :
ISBN 13 :
Total Pages : 114 pages
Book Rating : 4.:/5 (833 download)

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Book Synopsis Molecular and genetic characterization of the neurofibromatosis type 1 gene by : Siu Ing The

Download or read book Molecular and genetic characterization of the neurofibromatosis type 1 gene written by Siu Ing The and published by . This book was released on 1996 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Neurofibromatosis

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Publisher :
ISBN 13 :
Total Pages : 408 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Neurofibromatosis by : Jan Marshall Friedman

Download or read book Neurofibromatosis written by Jan Marshall Friedman and published by . This book was released on 1999 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Now in its third edition, Neurofibromatosis has been extensively rewritten by a group of leading neurofibromatosis (NF) researchers. It summarizes the current state of knowledge and details significant advances in the basic science and clinical care of patients with NF1 and NF2. Areas of particular emphasis include aspects of natural history, variability, pathology, molecular biology, and cellular biology that give a deeper understanding of the mechanisms responsible for these diseases. The book is a definitive, comprehensive review of the history, heterogeneity, pathogenesis, genetics, and management of NF1 and NF2"--Publisher description.

Molecular Diagnosis of Genetic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 1592594328
Total Pages : 392 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Molecular Diagnosis of Genetic Diseases by : Rob Elles

Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Molecular and Genetic Characterizatoin of the Neurofibromatosis Type 1 Gene

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Author :
Publisher :
ISBN 13 :
Total Pages : 114 pages
Book Rating : 4.:/5 (517 download)

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Book Synopsis Molecular and Genetic Characterizatoin of the Neurofibromatosis Type 1 Gene by : Siu Ing The

Download or read book Molecular and Genetic Characterizatoin of the Neurofibromatosis Type 1 Gene written by Siu Ing The and published by . This book was released on 1996 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: