1# Library to Find Best eBook for Read
Author : Kathryn North
Release : 1997-01-30
Genre : Medical
Kind : eBook
Book Rating : 131/5 ( reviews)
Book Synopsis Neurofibromatosis Type 1 in Childhood by : Kathryn North
Download or read book Neurofibromatosis Type 1 in Childhood written by Kathryn North. This book was released on 1997-01-30. Available in PDF, EPUB and Kindle. Book excerpt: A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.
Author : Meena Upadhyaya
Release : 2013-01-29
Genre : Medical
Kind : eBook
Book Rating : 644/5 ( reviews)
Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya
Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya. This book was released on 2013-01-29. 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.
Author : Paolo Curatolo
Release : 2006
Genre : Medical
Kind : eBook
Book Rating : 095/5 ( reviews)
Book Synopsis Neurocutaneous Syndromes in Children by : Paolo Curatolo
Download or read book Neurocutaneous Syndromes in Children written by Paolo Curatolo. This book was released on 2006. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Author : Christopher Maloney
Release : 2017-01-22
Genre :
Kind : eBook
Book Rating : 542/5 ( reviews)
Book Synopsis Helping Your Nf1 Child by : Christopher Maloney
Download or read book Helping Your Nf1 Child written by Christopher Maloney. This book was released on 2017-01-22. Available in PDF, EPUB and Kindle. Book excerpt: For the parents of NF1 children or newly diagnosed adults, Dr. Maloney covers the genetics of NF1 simply. He shows why the disease varies so widely in its symptoms and gives cutting edge research possibilities for its treatment.
Author : Peter Igaz
Release : 2019-10-06
Genre : Science
Kind : eBook
Book Rating : 056/5 ( reviews)
Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz
Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz. This book was released on 2019-10-06. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
