Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases (original) (raw)
Emőke Endreffy
Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics
Helen Lawce
American Journal of Medical Genetics, 1995
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Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome
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American Journal of Medical Genetics, 2000
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Prader–Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15—case report plus review of similar cases
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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q
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A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
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Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
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Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome
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The American Journal of Human Genetics, 1997
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Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
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Journal of Medical Genetics, 1999
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Molecular Genetics