Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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Outline of Final Research Achievements |
We accumulated more than 80 clinical history of PHP patients and performed molecular analysis in 70 cases of them. During the research period, we published some papers as follows: Sano S, et al., Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J 62(6), 523-529(2015); Nakamura A, Sano S, se al., Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. J Clin Endcocrinol Metab 101(7), 2623-2627, (2016); Sano S, et al., Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?. J Hum Genet 61(8), 765-769, (2016); Sano S., et al., (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I J Endocr Soc, 2(1),9-23, (2018)
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