UID:
almafu_9958125780202883
Umfang:
1 online resource (195 p.)
ISBN:
1-283-15345-9
,
9786613153456
,
3-8055-9042-3
Serie:
Endocrine development,
Inhalt:
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.
Anmerkung:
Description based upon print version of record.
,
""Cover""; ""Contents""; ""Preface""; ""Inherited and Sporadic Epimutations at the IGF2-H19 Locus in Beckwith-Wiedemann Syndrome and Wilms� Tumor""; ""Abstract""; ""Genomic Imprinting""; ""Beckwith-Wiedemann Syndrome""; ""IC1 Microdeletions""; ""IC1 Hypermethylation without Microdeletion""; ""Clinical Phenotype""; ""Epigenetic Mosaicism""; ""Loss of IGF2-H19 Imprinting""; ""Origin of the Imprinting Defects""; ""Absence of IC1 Microdeletions in Non-Syndromic Wilms� Tumor""; ""Conclusion""; ""Acknowledgments""; ""References""
,
""Epigenetic Regulation of Growth: Lessons from Silver-Russell Syndrome""""Abstract""; ""Genetics of SRS""; ""Chromosomes 15 and 17""; ""Chromosome 7""; ""Chromosome 11""; ""Do Different Mutations in Functional Networks Explain the Heterogeneity of SRS?""; ""Genotype-Phenotype Correlation in SRS?""; ""Conclusion""; ""References""; ""Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes""; ""Abstract""; ""Meaning of Epigenetic Reprogramming""; ""Paradigm of Prader-Willi and Angelman Syndromes: Imprinting Regulation and Evolutionary Aspects""; ""Prader-Willi Syndrome""
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""Angelman Syndrome""""Genetic Counseling""; ""References""; ""Muscle Involvement and IGF-1 Signaling in Genetic Disorders: New Therapeutic Approaches""; ""Abstract""; ""Molecular Complexities of IGF-1 Transcription""; ""Importance of IGF-1 Isoforms""; ""Effects of the Local Isoform of IGF-1 on Muscle Homeostasis and Regeneration""; ""Effects of mIGF-1 on Muscular Dystrophy and Muscle Wasting""; ""Conclusions""; ""Acknowledgments""; ""References""; ""Mitochondrial Encephalomyopathies and Related Syndromes: Brief Review""; ""Abstract""; ""Genetics""; ""Syndromes in Mitochondrial Cytopathies""
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""References""""Overgrowth Syndromes: A Classification""; ""Abstract""; ""Beckwith-Wiedemann Syndrome""; ""Simpson-Golabi-Behmel Syndrome""; ""Sotos Syndrome""; ""Weaver Syndrome""; ""Perlman Syndrome""; ""Bannayan-Riley-Ruvalcaba Syndrome""; ""22q13 Deletion Syndrome""; ""Pallister-Killian Syndrome""; ""References""; ""C-Type Natriuretic Peptide and Overgrowth""; ""Abstract""; ""References""; ""Role of Transcription Factors in Midline Central Nervous System and Pituitary Defects""; ""Abstract""; ""HESX1""; ""SOX3""; ""SOX2""; ""LHX3/LHX4""; ""PROP1""; ""POU1F1""; ""Conclusions""
,
""References""""Developmental Abnormalities of the Posterior Pituitary Gland""; ""Abstract""; ""Abnormal Development of the Posterior Pituitary Lobe""; ""Relationship between Posterior Pituitary Development and Pituitary Diseases""; ""Endocrine Consequences Related to Abnormal Posterior Pituitary Development""; ""Implications of EPP after Adult Height Achievement""; ""Conclusions""; ""References""; ""Hyperinsulinism in Developmental Syndromes""; ""Abstract""; ""Hyperinsulinaemic Hypoglycaemia due to Pre- and Post-Natal Overgrowth Syndromes""
,
""Hyperinsulinaemic Hypoglycaemia in Post-Natal Growth Failure Syndromes""
,
English
Weitere Ausg.:
ISBN 3-8055-9041-5
Sprache:
Englisch
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