Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

@article{iglaneShlik2006PrevalenceOA,
  title={Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.},
  author={Eve {\~O}iglane-Shlik and Tiina Talvik and Riina Zordania and Haide P{\~o}der and Tiina Kahre and Elve Raukas and Tiiu Ilus and Gunnar Tasa and Oliver Bartsch and Marja-Leena V{\"a}is{\"a}nen and Katrin {\~O}unap},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 18},
  pages={1936-43}
}
In 2000-2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or PWS (n = 184) were studied using the DNA methylation test. Individuals with abnormal methylation were all further tested by chromosomal and FISH analysis, and if necessary for uniparental disomy and UBE3A gene mutation. Nineteen cases with abnormal… CONTINUE READING

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The neonatal

  • O Bartsch, T Talvik, K. Õunap
  • 2006

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