Career Milestones Of A Medical Geneticist (Volume I: 1978-2019) by Merlin G. But

Description: Career Milestones Of A Medical Geneticist (Volume I by Merlin G. Butler The straightforward format of this book makes it an easy read. It is written in astraightforward and clear style, making it accessible to a broad audience of students andthose in academics interested in the career milestones of a medical geneticist dedicatedchronologically into two volumes of published scientific works over the past 45 years. The areas covered in this book include the research, management and treatment ofPrader-Willi syndrome (PWS), the most common recognized disorder with morbid obesity as wellas its causes and diagnosis with current understanding of genetics, natural history and imprintingof this rare obesity-related genetic disorder utilizing advances in chromosome and geneticlaboratory technology and observations, applied clinical trials and pharmacogenetics testing. This book includes early studies on sister chromosome exchanges, folds and breakage with anoverview of telomeric associations and chromosome anomalies, telomerase activity andtelomere integrity studies with effects of age on rare bone tumors.It discusses the clinical and cytogenetic survey with results of institutionalized and non-institutionalized subjects with mental retardation or intellectual disabilities, behavioral problems and autism focusing on fragile-X syndrome and other chromosome defects, some common and others rare, including the initial observations, establishment and characterization of Burnside-Butler syndrome, the most commonly recognized genetic cause in patients presenting for genetics service with neurodevelopmental problems, utilizing existing and new molecular genomic technologies suchas chromosomal microarrays, gene expression and next-generation sequencing. In this book, different phases and management of rare genetic disorders and causes such aspaternal source of the chromosome 15q deletion initially reported by Butler and Palmer in 1983in PWS and uniparental disomy 15, first identified and reported by Nicholls, Butler and colleaguesin 1989 led to the concept of genomic imprinting in humans along with description of uniparentaldisomy 15 subclasses, chromosome 15q deletion subtypes and imprinting defects seen in bothPrader-Willi and Angelman syndromes and their clinical differences. These and other geneticdisorders and chromosome syndromes are described and illustrated throughout. Cohorts ofpatients with rare genetic disorders that were characterized, described and studied over theyears including microdeletion syndromes, rare gene variants characterized with and withoutautism including fragile X syndrome are explained in detail in this book. Other syndromes with orwithout obesity are described and identification with location of genes causing not only obesity, but autism, infertility, alcoholism, intellectual disabilities, schizophrenia, bipolar disorder, andcardiac defects are discussed and overlapping disturbed genetic pathways, biological processesand molecular functions are illustrated in several individual reports and studies stimulatingadditional research. This is a unique book in terms of depth and complexity of reported findings and studies with awide range of experiences learned as represented by a selection of contributions from peer-reviewed research, genetic and clinical studies. Dr. Butler has learned as an academic physician-scientist, researcher and educator with a 45-year career evaluating over 40,000 patients whopresented for clinical genetics services requiring complex genetic testing, diagnosis, counseling, treatment and management. FORMAT Paperback CONDITION Brand New Details ISBN Author Merlin G. Butler Pages 554 Publisher Independently Published Year 2024 ISBN-13 9798334381162 Format Paperback Publication Date 2024-07-28 Imprint Independently Published Subtitle 1978-2019) Audience General We've got this At The Nile, if you're looking for it, we've got it. With fast shipping, low prices, friendly service and well over a million items - you're bound to find what you want, at a price you'll love! TheNile_Item_ID:161332869;

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