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Genomic imprinting: implications for human disease Falls JG; Pulford DJ; Wylie AA; Jirtle RLAm J Pathol 1999[Mar]; 154 (3): 635-47Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.|*Genomic Imprinting/physiology[MESH]|Angelman Syndrome/genetics[MESH]|Beckwith-Wiedemann Syndrome/genetics[MESH]|Behavior/physiology[MESH]|Brain/growth & development/physiology[MESH]|Humans[MESH]|Neoplasms/genetics[MESH]|Prader-Willi Syndrome/genetics[MESH] |
