{"product_id":"career-milestones-of-a-medical-geneticist-volume-i-1978-2019-9798334381162","title":"Career Milestones Of A Medical Geneticist (Volume I: 1978-2019)","description":"\u003cp\u003e • Author(s): Merlin G. Butler\u003cbr\u003e • Publisher: Independently Published\u003cbr\u003e • Publisher Imprint: Independently Published\u003cbr\u003e • BISAC: Informatics\u003c\/p\u003e\u003cp\u003e\u003c\/p\u003e\u003cp\u003eThe straightforward format of this book makes it an easy read. It is written in a\u003cbr\u003estraightforward and clear style, making it accessible to a broad audience of students and\u003cbr\u003ethose in academics interested in the career milestones of a medical geneticist dedicated\u003cbr\u003echronologically into two volumes of published scientific works over the past 45 years. \u003c\/p\u003e\u003cp\u003e\u003c\/p\u003eThe areas covered in this book include the research, management and treatment of\u003cbr\u003ePrader-Willi syndrome (PWS), the most common recognized disorder with morbid obesity as well\u003cbr\u003eas its causes and diagnosis with current understanding of genetics, natural history and imprinting\u003cbr\u003eof this rare obesity-related genetic disorder utilizing advances in chromosome and genetic\u003cbr\u003elaboratory technology and observations, applied clinical trials and pharmacogenetics testing. This book includes early studies on sister chromosome exchanges, folds and breakage with an\u003cbr\u003eoverview of telomeric associations and chromosome anomalies, telomerase activity and\u003cbr\u003etelomere integrity studies with effects of age on rare bone tumors.\u003cp\u003eIt 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 such\u003cbr\u003eas chromosomal microarrays, gene expression and next-generation sequencing. \u003c\/p\u003e\u003cp\u003e\u003c\/p\u003eIn this book, different phases and management of rare genetic disorders and causes such as\u003cbr\u003epaternal source of the chromosome 15q deletion initially reported by Butler and Palmer in 1983\u003cbr\u003ein PWS and uniparental disomy 15, first identified and reported by Nicholls, Butler and colleagues\u003cbr\u003ein 1989 led to the concept of genomic imprinting in humans along with description of uniparental\u003cbr\u003edisomy 15 subclasses, chromosome 15q deletion subtypes and imprinting defects seen in both\u003cbr\u003ePrader-Willi and Angelman syndromes and their clinical differences. These and other genetic\u003cbr\u003edisorders and chromosome syndromes are described and illustrated throughout. Cohorts of\u003cbr\u003epatients with rare genetic disorders that were characterized, described and studied over the\u003cbr\u003eyears including microdeletion syndromes, rare gene variants characterized with and without\u003cbr\u003eautism including fragile X syndrome are explained in detail in this book. Other syndromes with or\u003cbr\u003ewithout obesity are described and identification with location of genes causing not only obesity, \u003cbr\u003ebut autism, infertility, alcoholism, intellectual disabilities, schizophrenia, bipolar disorder, and\u003cbr\u003ecardiac defects are discussed and overlapping disturbed genetic pathways, biological processes\u003cbr\u003eand molecular functions are illustrated in several individual reports and studies stimulating\u003cbr\u003eadditional research. \u003cp\u003e\u003c\/p\u003eThis is a unique book in terms of depth and complexity of reported findings and studies with a\u003cbr\u003ewide range of experiences learned as represented by a selection of contributions from peer-\u003cbr\u003ereviewed research, genetic and clinical studies. Dr. Butler has learned as an academic physician-\u003cbr\u003escientist, researcher and educator with a 45-year career evaluating over 40,000 patients who\u003cbr\u003epresented for clinical genetics services requiring complex genetic testing, diagnosis, counseling, \u003cbr\u003etreatment and management.","brand":"Independently Published","offers":[{"title":"Paperback","offer_id":45559425695895,"sku":"9798334381162","price":15991.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0666\/3471\/1191\/files\/9798334381162.webp?v=1768595415","url":"https:\/\/atlanticbooks.com\/products\/career-milestones-of-a-medical-geneticist-volume-i-1978-2019-9798334381162","provider":"Atlantic Books","version":"1.0","type":"link"}