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Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
 
 
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Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects [Hardcover]

Eric Engel (Author), Stylianos E. Antonarakis (Author)
5.0 out of 5 stars  See all reviews (1 customer review)

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Book Description

October 29, 2001 0471351261 978-0471351269 1
Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance.

Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.

Editorial Reviews

Review

"…a thorough review…a great…reference…" (Journal of Genetic Counseling, Vol. 12, No. 3, June 2003)

Review

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

Product Details

  • Hardcover: 304 pages
  • Publisher: Wiley-Liss; 1 edition (October 29, 2001)
  • Language: English
  • ISBN-10: 0471351261
  • ISBN-13: 978-0471351269
  • Product Dimensions: 9.7 x 6.2 x 0.8 inches
  • Shipping Weight: 1.2 pounds (View shipping rates and policies)
  • Average Customer Review: 5.0 out of 5 stars  See all reviews (1 customer review)
  • Amazon Best Sellers Rank: #3,603,501 in Books (See Top 100 in Books)

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5.0 out of 5 stars Great Reference, July 24, 2003
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This review is from: Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects (Hardcover)
"...a thorough review...a great...reference..." (Journal of Genetic Counseling, Vol. 12, No. 3, June 2003)
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Inside This Book (learn more)
First Sentence:
In humans, after the two meiotic divisions, only one member of each of the 23 chromosomal pairs is normally included in each germ cell. Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
gamete complementation, monosomy rescue, ins codon, maternal isodisomy, trisomy rescue, fetal uniparental disomy, paternal isodisomy, del codon, euploid cell line, transient neonatal diabetes mellitus, mitotic duplication, nondeletion cases, initial trisomy, primordial growth retardation, maternal uniparental isodisomy, placental trisomy, maternal uniparental disomy, supernumerary marker chromosomes, methylation test, fetal mosaicism, syndrome chromosome region, imprinting mutations, paternal uniparental disomy, imprinted gene expression, paternal uniparental isodisomy
Key Phrases - Capitalized Phrases (CAPs): (learn more)
Hum Genet, Med Genet, Hum Mol Genet, Nat Genet, Prenat Diagn, Proc Natl Acad Sci, Nature Genet, Clin Genet, Hum Molec Genet, Genome Res, Ann Genet, Curr Opin Genet Dev, Genes Dev, Acta Genet Med Gemellol, Nucleic Acids Res, Annu Rev Genet, Dis Child, Trends Genet, Abnormal Extremely, Cytogenet Cell Genet, Ann Neurol, Brachmann-de Lange, Cancer Res, Clin Invest, Identification of the Meg
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