Sawai H - Search Results

1

Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.

Nagata M, Setoh K, Takahashi M, Higasa K, Kawaguchi T, Kawasaki H, Wada T, Watanabe A, Sawai H, Tabara Y, Yamada T, Matsuda F, Kosugi S. Nagata M, et al. Among authors: sawai h. J Hum Genet. 2020 Mar;65(3):337-343. doi: 10.1038/s10038-019-0712-3. Epub 2019 Dec 20. J Hum Genet. 2020. PMID: 31857675

2

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

Sawai H, Ida A, Nakata Y, Koyama K. Sawai H, et al. J Hum Genet. 1998;43(4):259-61. doi: 10.1007/s100380050085. J Hum Genet. 1998. PMID: 9852679

3

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

Sawai H, Kanazawa N, Tsukahara Y, Koike K, Udagawa H, Koyama K, Mornet E. Sawai H, et al. Prenat Diagn. 2003 Sep;23(9):743-6. doi: 10.1002/pd.696. Prenat Diagn. 2003. PMID: 12975786

4

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.

Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T. Watanabe A, et al. Among authors: sawai h. J Hum Genet. 2011 Feb;56(2):166-8. doi: 10.1038/jhg.2010.161. Epub 2010 Dec 23. J Hum Genet. 2011. PMID: 21179104

5

The current status of umbilical cord blood collection in Japanese medical centers: survey of obstetricians.

Tada N, Hinotsu S, Urushihara H, Kita F, Kai S, Takahashi TA, Kato S, Takanashi M, Ito K, Sawai H, Maekawa T, Kosugi S, Kawakami K. Tada N, et al. Among authors: sawai h. Transfus Apher Sci. 2011 Jun;44(3):263-8. doi: 10.1016/j.transci.2011.04.003. Epub 2011 Apr 21. Transfus Apher Sci. 2011. PMID: 21514231

6

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.

Yamada T, Takagi M, Nishimura G, Akaishi R, Furuta I, Morikawa M, Yamada T, Cho K, Sawai H, Ikegawa S, Hasegawa T, Minakami H. Yamada T, et al. Among authors: sawai h. Am J Med Genet A. 2012 Nov;158A(11):2969-71. doi: 10.1002/ajmg.a.35602. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987783 No abstract available.

7

The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory.

Nishiyama M, Sawai H, Kosugi S. Nishiyama M, et al. Among authors: sawai h. J Genet Couns. 2013 Dec;22(6):795-804. doi: 10.1007/s10897-013-9632-0. Epub 2013 Aug 24. J Genet Couns. 2013. PMID: 23974868

8

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. Among authors: sawai h. 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.

9

Survey of prenatal testing for genetic disorders in Japan: Recent report.

Nobuzane T, Yamada T, Miura K, Sawai H, Masuzaki H, Kudo Y. Nobuzane T, et al. Among authors: sawai h. J Obstet Gynaecol Res. 2016 Apr;42(4):375-9. doi: 10.1111/jog.12948. Epub 2016 Feb 18. J Obstet Gynaecol Res. 2016. PMID: 26890253 Review.

10

Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy.

Suzumori N, Ebara T, Yamada T, Samura O, Yotsumoto J, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Saldivar JS, Dharajiya N, Sago H, Sekizawa A; Japan NIPT Consortium. Suzumori N, et al. Among authors: sawai h. J Hum Genet. 2016 Jul;61(7):647-52. doi: 10.1038/jhg.2016.25. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984559

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