Endocrine Involvement in Developmental Syndromes
1st Edition
Published on 26. February 2009
Book
Hardback
188 pages
978-3-8055-9041-9 (ISBN)
Description
In recent years a significant improvement in the understanding of genetics and developmental syndromes has been seen. In this context, the study of endocrinological aspects in patients with genetic syndromes is acquiring increasing significance. This book documents a workshop held in Rome in April 2008 and presents recent advances in the study of developmental syndromes and epigenetics. Contributions by international experts focus on the genetic aspects of Beckwith-Wiedemann, Silver-Russel, Prader-Willi and Angelman syndromes and many more. Providing an eclectic update on the endocrine involvement in developmental syndromes, this book will be of interest to clinicians and researchers in endocrinology, pediatrics and genetics.
More details
Persons
Content
Preface: Cappa, M.; Bottazzo, G.F.; Inherited and Sporadic Epimutations at the IGF2-H19 Locus in Beckwith-Wiedemann Syndrome and Wilms' Tumor: Riccio, A.; Sparago, A.; Verde, G.; De Crescenzo, A.; Citro, V.; Cubellis, M.V.; Ferrero, G.B.; Silengo, M.C.; Russo, S.; Larizza, L.; Cerrato, F.; Epigenetic Regulation of Growth: Lessons from Silver-Russell Syndrome: Eggermann, T.; Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes: Gurrieri, F.; Accadia, M.; Muscle Involvement and IGF-1 Signaling in Genetic Disorders: New Therapeutic Approaches: Barberi, L.; Dobrowolny, G.; Pelosi, L.; Giacinti, C.; Musaro, A.; Mitochondrial Encephalomyopathies and Related Syndromes: Brief Review: Bertini, E.; D'Amico, A.; Overgrowth Syndromes: A Classification: Neri, G.; Moscarda, M.; C-Type Natriuretic Peptide and Overgrowth: Bocciardi, R.; Ravazzolo, R.; Role of Transcription Factors in Midline Central Nervous System and Pituitary Defects: Kelberman, D.; Dattani, M.T.; Developmental Abnormalities of the Posterior Pituitary Gland: di Iorgi, N.; Secco, A.; Napoli, F.; Calandra, E.; Rossi, A.; Maghnie, M.; Hyperinsulinism in Developmental Syndromes: Kapoor, R.R.; James, C.; Hussain, K.; Developmental Syndromes: Growth Hormone Deficiency and Treatment: Mazzanti, L.; Tamburrino, F.; Bergamaschi, R.; Scarano, E.; Montanari, F.; Torella, M.; Ballarini, E.; Cicognani, A.; Growth Hormone-Resistant Syndromes: Long-Term Follow-Up: Chernausek, S.D.; Phenotypic Aspects of Growth Hormone- and IGF-I-Resistant Syndromes: Savage, M.O.; David, A.; Camacho-Hubner, C.; Metherell, L.A.; Clark, A.J.L.; Double Diabetes: A Mixture of Type 1 and Type 2 Diabetes in Youth: Pozzilli, P.; Guglielmi, C.; Cryptorchidism as Part of the Testicular Dysgenesis Syndrome: The Environmental Connection: Main, K.M.; Skakkebaek, N.E.; Toppari, J.; Disorders of Sex Development in Developmental Syndromes: Hiort, O.; Gillessen-Kaesbach, G.; Author Index; Subject Index.