Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

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A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

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Q47697488-E849A7D8-CC5B-461C-AEBC-0584EA6E4745

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Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Osteosarcoma in a Patient With ...... ntal Disomy of Chromosome 20q.

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Chang Gon Kim

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Da Hea Seo

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Hye-Sun Park

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Seok Joo Lee

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P2860

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

HIPK2 overexpression leads to stabilization of p53 protein and increased p53 transcriptional activity by decreasing Mdm2 protein levels

RhoE is a pro-survival p53 target gene that inhibits ROCK I-mediated apoptosis in response to genotoxic stress

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results Program

The pathogenesis of bisphosphonate-related osteonecrosis of the jaw: so many hypotheses, so few data.

Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

The genetics of osteosarcoma.

Brown tumour of the maxilla and mandible: a rare complication of tertiary hyperparathyroidism.

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770-775

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scholarly article

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10.1002/JBMR.3043

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P478

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Namki Hong

Yumie Rhee

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2016-11-18T00:00:00Z

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27859596

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Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

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P2860

P2860

Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698