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Author Workshop on Endocrine Involvement in Developmental Syndromes (2008 : Rome, Italy)

Title Endocrine involvement in developmental syndromes / Workshop on Endocrine Involvement in Developmental Syndromes, April 21-22, 2008, Rome ; volume editors, Marco Cappa [and others]
Published Basel ; New York : Karger, 2009


Description 1 online resource (pages .)
Series Endocrine development, 1421-7082 ; v. 14
Endocrine development ; v. 14.
Contents Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor / Riccio, A. [and others] -- 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. [and others] -- Mitochondrial encephalomyopathies and related syndromes : brief review / Bertini, E. -- 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. [and others] -- Hyperinsulinism in developmental syndromes / Kapoor, R.R., James, C., Hussain, K. -- Developmental syndromes : growth hormone deficiency and treatment / Mazzanti, L. [and others] -- Growth hormone-resistant syndromes : long-term follow-up / Chernausek, S.D. -- Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes / Savage, M.O. [and others] -- 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., Skakkebk, N.E., Toppari, J. -- Disorders of sex development in developmental syndromes / Hiort, O., Gillessen-Kaesbach, G
Summary 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
Bibliography Includes bibliographical references and indexes
Notes Print version record
Subject Pediatric endocrinology -- Congresses
Growth disorders -- Endocrine aspects -- Congresses
Developmental disabilities -- Endocrine aspects -- Congresses
Abnormalities, Human.
Human beings.
Endocrine System Diseases -- etiology
Congenital Abnormalities
Genetic Diseases, Inborn -- complications
children (people by age group)
Homo sapiens (species)
Abnormalities, Human
Pediatric endocrinology
Genre/Form proceedings (reports)
Conference papers and proceedings
Conference papers and proceedings.
Actes de congrès.
Form Electronic book
Author Cappa, Marco
S. Karger (Firm)
LC no. 2008052202
ISBN 9783805590426