Overview

From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist

Full Product Details

Author:   Harry Harris ,  Kurt Hirschhorn
Publisher:   Springer-Verlag New York Inc.
Imprint:   Springer-Verlag New York Inc.
Edition:   Softcover reprint of the original 1st ed. 1989
Volume:   18
Dimensions:   Width: 15.50cm , Height: 2.10cm , Length: 23.50cm
Weight:   0.623kg
ISBN:  

9781461280811

ISBN 10:   1461280818
Pages:   406
Publication Date:   12 October 2011
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
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Table of Contents

1 The Molecular Basis of HLA—Disease Association.- Function and Nomenclature.- Genomic Organization.- Class II Sequence Polymorphism.- Structural Consideration.- HLA and Disease.- Hybrid Molecules and Transassociation.- Disease-Associated Class II Sequences.- Mechanisms of Class II-Mediated Disease Susceptibility.- References.- 2 Chromosome Instability Syndromes.- Clinical Descriptions.- Cytogenetic Findings.- Heterogeneity and Complementation.- Heterozygote Detection.- Prenatal Diagnosis.- Molecular Considerations.- Conclusion.- References.- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations.- The Biochemical Basis of Lacticacidemia.- Pyruvate Carboxylase Deficiency.- Respiratory Chain Defects.- The Genetics of Lacticacidemia.- References.- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes.- Infants of Diabetic Mothers.- Infant Giants.- Beckwith—Wiedemann Syndrome.- Hemihyperplasia (Hemihypertrophy).- Sotos Syndrome.- Nevo Syndrome.- Bannayan—Riley—Ruvalcaba Syndrome.- Weaver Syndrome.- Marshall—Smith Syndrome.- Elejalde Syndrome.- Simpson—Golabi—Behmel Syndrome.- Proteus Syndrome.- Miscellaneous Conditions with Overgrowth.- References.- 5 Genetics of Growth Hormone and Its Disorders.- Human Growth Hormone and Related Hormones.- Human Growth Hormone Gene Cluster.- Genetic Disorders of hGH and hCSH Synthesis or Action.- Recombinant hGH.- Future Studies on hGH and Related Genes.- References.- Addenda.

Reviews

From reviews of previous volumes in the series: Extremely valuable...thoroughly recommended.' Annals of Human Genetics The most lucid and stimulating discussions of the topic to be found anywhere.' American Scientist

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