All Stories

  1. National survey of prevalence and prognosis of thanatophoric dysplasia in Japan
  2. Challenges in Managing Patients with Hereditary Cancer at Gynecological Services
  3. Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT
  4. Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
  5. 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
  6. A Case of a Pregnant Woman with Thrombosis in an Artificial Aortic Valve Resulting in Severe Cerebral Hemorrhage in the Newborn
  7. 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
  8. Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy
  9. Current status of non-invasive prenatal testing in Japan
  10. Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia
  11. Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose
  12. Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study
  13. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan
  14. Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
  15. Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy
  16. Survey of prenatal testing for genetic disorders in Japan: Recent report
  17. Criteria for radiologic diagnosis of hypochondroplasia in neonates
  18. A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester
  19. A novel mutation Ser344Cys inFGFR3causes achondroplasia with severe platyspondyly
  20. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience
  21. Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations
  22. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells
  23. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
  24. Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias
  25. Development of an integrated support system for hereditary cancer and its impact on gynecologic services
  26. 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
  27. A large seminoma occurring 20years after diagnosis of complete androgen insensitivity syndrome: A case report
  28. Live births from isolated primary/early secondary follicles following a multistep culture without organ culture in mice
  29. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novelCOL1A1mutation
  30. Reproductive success in patients with Hallermann-Streiff syndrome
  31. Low prevalence of genetic prenatal diagnosis in Japan
  32. The current status of umbilical cord blood collection in Japanese medical centers: Survey of obstetricians
  33. Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography
  34. 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
  35. Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
  36. Mutation analysis ofSOX9and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia
  37. Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
  38. Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis
  39. Pig zona pellucida 2 (pZP2) protein does not participate in zona pellucida formation in transgenic mice
  40. Bone Morphogenetic Protein-2 Counterregulates Interleukin-18 mRNA and Protein in MC3T3-E1 Mouse Osteoblastic Cells
  41. A compound heterozygote harboring novel and recurrentDTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
  42. Possible presence of O-linked carbohydrate in the human male reproductive tract CD52
  43. Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period
  44. Isolation and characterization of a human sperm antigen gene h-Sp-1
  45. Epitope analysis for human sperm-immobilizing monoclonal antibodies, MAb H6-3C4, 1G12 and campath-1
  46. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene
  47. Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects
  48. Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine
  49. Case Report:Prenatal sonographic diagnosis of a fetal renal mesoblastic nephroma occurring after transfer of a cryopreserved embryo
  50. 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
  51. 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
  52. Prenatal Diagnosis of Achondroplasia Using the Nested Polymerase Chain Reaction with Modified Primer Sets
  53. Direct Production of the Fab Fragment Derived From the Sperm Immobilizing Antibody Using Polymerase Chain Reaction and cDNA Expression Vectors
  54. Cloning and expression of the rat class I MHC gene RT1.A l
  55. Multiple TL-like loci in the grc-G/C region of the rat
  56. Stable Production of Recombinant Human Sperm Immobilizing Antibody Using cDNA Expression Vectors