Concepedia

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo, Nina Powell‐Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire Turner, I. Karen Temple,

Genetics in Medicine · 2015 · 122 citations · 15 references

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15

The imprinted signaling protein XLαs is required for postnatal adaptation to feeding

Antonius Plagge, Emma Gordon, Wendy Dean et al. · Nature Genetics · 2004 · 268 citations

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Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects

Emily G. Allen, Sallie B. Freeman, Charlotte M. Druschel et al. · Human Genetics · 2008 · 266 citations · Full text

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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Yiannis Ioannides, Oluwakemi Lokulo‐Sodipe, Deborah Mackay et al. · Journal of Medical Genetics · 2014 · 261 citations

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UPD detection using homozygosity profiling with a SNP genotyping microarray

Peter Papenhausen, Stuart Schwartz, Hiba Risheg et al. · American Journal of Medical Genetics Part A · 2011 · 202 citations

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Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

Murat Bastepe, Andrew Lane, Harald Jüppner · The American Journal of Human Genetics · 2001 · 202 citations · Full text

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