Advances in Human Genetics

Volume 18

408 Seiten, Taschenbuch

Kurzbeschreibung des Verlags

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.

• Reihe: Springer
• ISBN: 9781461280811
• Sprache: Englisch
• Erscheinungsdatum: 12.10.2011
• Größe: 235 x 155 mm
• Verlag: Springer Nature B.V.
• Herausgegeben von: Harry Harris, Kurt Hirschhorn