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Phenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings

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참고문헌 (10)

  1. Weischenfeldt J, "Phenotypic impact of genomic structural variation: insights from and for human disease", Nat Rev Genet, 14, pp.125~138 (2013)
  2. Xu Y, "Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle", Mamm Genome, 24, pp.508~516 (2013)
  3. Su PH, "Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter).", Pediatr Neonatol, 49, pp.189~192 (2008)
  4. Ergun MA, "Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies", Turk J Pediatr, 46, pp.384~387 (2004)
  5. Lukusa T, "De novo deletion 7q36 resulting from a distal 7q", 8q translocation: phenotypic expression and comparison to the literature, 2005, pp.16, 1~15
  6. Concolino D, "A de novo 8q22.2-24.3 duplication in a patient with mild phenotype", Eur J Med Genet, 55, pp.67~70 (2012)
  7. Patel SR, "Mechanisms of gene activation and repression by Pax proteins in the developing kidney", Pediatr Nephrol, 29, pp.589~595 (2014)
  8. Bakrania P, "Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies", Am J Med Genet Part A, 152A, pp.1310~1313 (2010)
  9. Frost JM, "The importance of imprinting in the human placenta", PLoS Genet, 6, pp.e1001015~ (2010)
  10. Barel O, "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9", Am J Hum Genet, 83, pp.193~199 (2008)

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