Takagi M - Search Results

1

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Yagi H, et al. Among authors: takagi m. Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26788936 No abstract available.

2

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishimura G, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2013 Aug;161A(8):1980-2. doi: 10.1002/ajmg.a.36025. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813632 No abstract available.

3

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2015 Jul;167(7):1627-31. doi: 10.1002/ajmg.a.37051. Epub 2015 Apr 9. Am J Med Genet A. 2015. PMID: 25858481

4

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2015 Nov;167A(11):2851-4. doi: 10.1002/ajmg.a.37231. Epub 2015 Jun 30. Am J Med Genet A. 2015. PMID: 26126848 No abstract available.

5

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Takagi M, et al. Am J Med Genet A. 2016 Mar;170(3):795-8. doi: 10.1002/ajmg.a.37481. Epub 2015 Nov 19. Am J Med Genet A. 2016. PMID: 26586363 No abstract available.

6

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2017 Apr;173(4):1071-1076. doi: 10.1002/ajmg.a.38099. Epub 2017 Feb 12. Am J Med Genet A. 2017. PMID: 28190287

7

Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.

Takagi M, Hori N, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Sakata H, Fukuzawa R, Nishimura G, Spranger J, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2011 Sep;155A(9):2269-73. doi: 10.1002/ajmg.a.34152. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834035

8

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.

Takagi M, Kaneko-Schmitt S, Suzumori N, Nishimura G, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2012 Jan;158A(1):247-50. doi: 10.1002/ajmg.a.34358. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106050 No abstract available.

9

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.

Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T. Mitsui T, et al. Among authors: takagi m. Am J Med Genet A. 2012 Jan;158A(1):261-4. doi: 10.1002/ajmg.a.34393. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140064 No abstract available.

10

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.

Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M. Saito T, et al. Among authors: takagi m. Am J Med Genet A. 2012 Mar;158A(3):630-4. doi: 10.1002/ajmg.a.34424. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302603

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