West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

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American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2584-2588

John Wiley & Sons Inc

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Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

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John Wiley & Sons Inc

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Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes

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Oxford University Press

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Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome

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Concurrent diagnoses of Prader–Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1944-1948

John Wiley & Sons Inc

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