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Present specialized field
Presentation
External Researcher ID
    （Last updated : 2023-10-13 11:52:08）
  Sawai Hideaki
   Department     , Central Clinic
   Specialty Division  Obstetrics and Gynecology, Clinical Medicine Seminars
   Position  
■ Journal
1. Other　 Syndrom der kleinen Fruchtblase bei heterozygoter Achondroplasie, Eine Fallstudie 1905/06
2. Other　 Stable production of recombinant human sperm immobilizing antibody using cDNA expression vectors. 1993/03
3. Other　 Studies on the RT1.E locus of the rat major histocompatibility complex. 1993/10
4. Other　 Cloning and expression of the rat class I MHC gene RT1.Al. 1994/01
5. Other　 Multiple TL-like loci in the grc-G/C region of the rat. 1994/01
6. Other　 Direct production of the Fab fragment derived from the sperm immobilizing antibody using polymerase chain reaction and cDNA expression vectors. 1995/07
7. Other　 Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. 1996/11
8. Other　 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. 1998/01
9. Other　 Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 1999/01
10. Other　 Prenatal sonographic diagnosis of a fetal renal mesoblastic nephroma occurring after transfer of a cryopreserved embryo. 1999/05
11. Other　 Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine. 2000/01
12. Other　 Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects. 2002/01
13. Other　 Epitope analysis for human sperm-immobilizing monoclonal antibodies, MAb H6-3C4, 1G12 and campath-1. 2003/06
14. Other　 Isolation and characterization of a human sperm antigen gene h-Sp-1. 2003/08
15. Other　 Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. 2003/09
16. Other　 Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. 2004/01
17. Other　 Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with nonmosaic Klinefelter's syndrome: a report of 2 cases. 2004/02
18. Other　 Possible presence of O-linked carbohydrate in the human male reproductive tract CD52 2004/06
19. Other　 Bone morphogenetic protein-2 counterregulates interleukin-18 mRNA and protein in MC3T3-E1 mouse osteoblastic cells. 2006/05
20. Other　 A compound heterozygote harboring novel and recurrentDTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia 2006/06
21. Other　 Pig zona pellucida 2 (pZP2) protein does not participate in zona pellucida formation in transgenic mice. 2006/09
22. Other　 Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. 2008/11
23. Other　 Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. 2009/07
24. Other　 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. 2009/12
25. Other　 Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. 2010/12
26. Other　 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. 2010/12
27. Other　 Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. 2011/01
28. Other　 The current status of umbilical cord blood collection in Japanese medical centers: survey of obstetricians. 2011/04
29. Other　 Low prevalence of genetic prenatal diagnosis in Japan. 2011/07
30. Other　 Reproductive success in patients with Hallermann-Streiff syndrome. 2011/08
31. Other　 Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation. 2012/09
32. Other　 A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report. 2013/03
33. Case report　 A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report. 2013/03
34. Original article　 Development of an integrated support system for hereditary cancer and its impact on gynecologic services. 2013/12
35. Original article　 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. 2013/12
36. Original article　 Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias. 2014/08
37. Original article　 Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. 2014/09
38. Original article　 Development of an integrated support system for hereditary cancer and its impact on gynecologic services. 2014/12 Link
39. Other　 Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations. 2015/01
40. Original article　 Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells. 2015/01
41. Original article　 Chromosome abnormalities diagnosed in utero: a Japanese study of 28983 amniotic fluid specimens collected before 22 weeks gestations. 2015/03
42. Other　 Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience 2015/04
43. Original article　 Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. 2015/04
44. Other　 A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. 2015/06
45. Original article　 A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly 2015/11
46. Case report　 A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester. 2016/02
47. Research report　 Survey of prenatal testing for genetic disorders in Japan: Recent report. 2016/02
48. Original article　 Criteria for radiologic diagnosis of hypochondroplasia in neonates. 2016/04
49. Original article　 Survey of prenatal testing for genetic disorders in Japan: Recent report 2016/04
50. Original article　 Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy. 2016/06
51. Original article　 Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan. 2016/10
52. Other　 Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study. 2016/11
53. Original article　 A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan. 2016/12
54. Original article　 Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study 2016/12
55. Original article　 Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose 2017/04
56. Other　 Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose. 2017/04
57. Other　 Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. 2017/04
58. Original article　 Parental serum alkaline phosphatase activity as an auxiliary tool
for prenatal diagnosis of hypophosphatasia 2017/05
59. Other　 Current status of non-invasive prenatal testing in Japan. 2017/06
60. Original article　 Effectiveness of intraperitoneal or intrapleural administration of triamcinolone acetonide for the control of malignant ascites and pleural effusion (Kansai Clinical Oncology Group-G1102 study). 2017/07
61. Original article　 Current status of non-invasive prenatal testing in Japan 2017/08
62. Case report　 A Case of a Pregnant Woman with Thrombosis in an Artificial Aortic Valve Resulting in Severe Cerebral Hemorrhage in the Newborn 2018/01
63. Original article　 Fetal cell-free DNA fraction in maternal plasma for the prediction
of hypertensive disorders of pregnancy 2018/03
64. Other　 Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy. 2018/03
65. Other　 Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. 2018/05
66. Other　 A Case of a Pregnant Woman with Thrombosis in an Artificial Aortic Valve Resulting in Severe Cerebral Hemorrhage in the Newborn. 2018/07
67. Other　 Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan. 2018/08
68. Original article　 Correction: Maternal age-specific risk for trisomy 21 based on the
clinical performance of NIPT and empirically derived NIPT agespecific
positive and negative predictive values in Japan 2018/10
69. Other　 Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. 2018/10
70. Original article　 Maternal age-specific risk for trisomy 21 based on the clinical
performance of NIPT and empirically derived NIPT age-specific
positive and negative predictive values in Japan 2018/10
71. Original article　 Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT. 2019/01
72. Original article　 Challenges in Managing Patients with Hereditary Cancer at Gynecological Services 2019/05
73. Original article　 National survey of prevalence and prognosis of thanatophoric dysplasia in Japan 2019/08
74. Other　 Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study. 2019/12
75. Original article　 Paternal occupational exposure to chemicals and secondary sex ratio: results from the Japan Environment and Children's Study. 2019/12
76. Original article　 Clinical Practice Guidelines for Hypophosphatasia. 2020/01
77. Other　 Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing. 2020/02
78. Original article　 Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13 2021/01
79. Original article　 Association between the serum insulin-like growth factor-1 concentration in the first trimester of pregnancy
and postpartum depression 2021/05
80. Original article　 Association between the serum insulin-like growth factor-1 concentration in the first trimester of pregnancy and postpartum depression. 2021/05
81. Original article　 Feelings about pregnancy and mother-infant bonding as predictors of persistent psychological distress in the perinatal period: The Japan Environment and Children's Study. 2021/08
82. Original article　 Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory 2021/11
83. Original article　 Association of epidural analgesia during labor with neurodevelopment of children during the first three years: the Japan Environment and Children’s Study 2022/09
84. Original article　 Factors related to indecisive attitudes toward non-invasive prenatal testing among women of reproductive age in Japan 2023/03
85. Original article　 Analyzing the relationship between feelings about pregnancy and mother-infant bonding with the onset of maternal psychological distress after childbirth: The Japan Environment and Children's Study 2023/05
86. Original article　 Comprehensive Genomic Profiling Detects Hereditary Cancers and Confers Survival Advantage in Patients With Gynaecological Cancers 2023/05
87. Original article　 Preconception education program for non-invasive prenatal testing focused on interest in genetics among female university students in Japan: a quasi-experimental study comparing pre-intervention, post-intervention, and three-month follow-up results 2023/07
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■ Present specialized field
Obstetrics and gynecology 
■ Presentation
1. Fetal CT Imaging of Skeletal Dysplasia （Oral presentation，General Lecture） 2013/04/12
2. A case of fetal hypothyroidism recognized during treatment of Basedow disease with oral medicine （Poster presentation，General Lecture） 2013/06/02
3. The case that 5p part deletion was accepted by amniotic diagnosis （Oral presentation，General Lecture） 2014/11/20
4. Analysis of four cases of unexpected NIPT results; false positive, false-negative and non-reportable cases （Poster presentation，General Lecture） 2016/07/10
5. Radiographic pelvimetry: evaluation of radiation dose and image quality （Poster presentation，General Lecture） 2016/07/10
6. Survey of long survival cases of thanatophoric dyplasias （Poster presentation，General Lecture） 2016/07/10
7. A fetus with lethal chromosomal abnormality lead to a spontaneous abortion in the first trimester （Poster presentation，General Lecture） 2017/06/15
8. A Case of trisomy 21 followed by NIPT false negative by placental chromosomal mosaicism. （Poster presentation，General Lecture） 2017/07/09
9. A successful pregnancy in a patient with 46,XY pure gonadal dysgenesis after transfer of a frozen-thawed embryo derived from donor oocytes （Poster presentation，General Lecture） 2018/05/11
10. Frequency of various type of inherited spinocerebellar ataxia in South Osaka area （Poster presentation，General Lecture） 2018/06/28
11. Practical applications of written consent for genetic testing （Poster presentation，General Lecture） 2019/11/07
12. Genomic profiling of primary peritoneal cancer with platinum sensitive recurrence. A two cases （Web announcement，General Lecture） 2020/04/24
13. A case report of multilocus inherited neoplasia alleles syndrome (MINAS) with simultaneous Lynch syndrome and HBOC （Poster presentation，General Lecture） 2022/08/06
14. Lynch Syndrome (LS) Caused by Rare Intronic Mutation in Mismatch Repair (MMR) Genes : Two Cases （Oral presentation，General Lecture） 2023/07/14
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■ External Researcher ID
orcID https://orcid.org/0000-0002-8997-464X
mail