Genomic Imprinting and Uniparental Disomy in Medicine

Beschreibung

Eric Engel and Stylianos Antonarakis have written the mostauthoritative and vital reference on molecular and clinical aspectsof uniparental disomy (UPD) and genomic imprinting to date. GenomicImprinting and Uniparental Disomy in Medicine featurescomprehensive overviews of a multitude of genetic disorders linkedto UPD, with a strong emphasis on clinical consequences. This bookwill provide readers with the tools necessary to identify and treatdiseases associated with nontraditional chromosomalinheritance. Genomic Imprinting and Uniparental Disomy in Medicine featureshandy tables summarizing clinical phenotypes and chromosomalinvolvement in UPD, as well as clear illustrations on imprintingmechanisms and diagnostic testing. This authoritative, completelyup-to-date practical reference will be useful for any clinicalgeneticist, genetic counselor, physician, or researcherencountering patients with such disorders or studying complexdisease mechanisms.

Autor*in

Eric Engel

Themen in »Genomic Imprinting and Uniparental Disomy in Medicine«

Biowissenschaften Genetics Genetik Life Sciences Medical Science Medical Sciences Special Topics Medizin Spezialthemen Medizin

Stimmen zu »Genomic Imprinting and Uniparental Disomy in Medicine«

"...a thorough review...a great...reference..." (Journal of Genetic Counseling, Vol. 12, No. 3, June 2003)Genomic Imprinting and Uniparental Disomy in Medicine will without any doubt become a classic in Human Genetics. Eric Engel and Stylianos Antonarakis have filled a gap in the litterature which will benefit both experts and students. Rather than sticking to purely scientific analyses of the phenomenon, they provide the reader a remarkable overview of the available knowledge on the subject, including a detailed discussion of known clinical examples, as well as real practical suggestions for the clinical genetics practice. Using simple and didactic schemes the different mechanisms of UPD are clearly explained for everybody to understand. For those not familiar with these rather frequent errors of nature the book will be an eye opener. --Jean-Jacques Cassiman, Center for Human Genetics, University of Leuven
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