Lista de obras -

A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

artículo científico publicado en 2016

A Case of a Pregnant Woman with Thrombosis in an Artificial Aortic Valve Resulting in Severe Cerebral Hemorrhage in the Newborn

scientific article published on 29 July 2018

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia

artículo científico publicado en 2006

A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Bone morphogenetic protein-2 counterregulates interleukin-18 mRNA and protein in MC3T3-E1 mouse osteoblastic cells.

artículo científico publicado en 2006

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services

scientific article published on 27 May 2019

Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

artículo científico publicado en 2015

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

scientific article published on 10 January 2019

Clinical Practice Guidelines for Hypophosphatasia

artículo científico publicado en 2020

Cloning and expression of the rat class I MHC gene RT1.Al.

artículo científico publicado en 1994

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

scientific article published on 01 October 2018

Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

scientific article published on 23 August 2018

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

artículo científico publicado en 2016

Current status of non-invasive prenatal testing in Japan.

artículo científico publicado en 2017

Development of an integrated support system for hereditary cancer and its impact on gynecologic services.

artículo científico publicado en 2013

Direct production of the Fab fragment derived from the sperm immobilizing antibody using polymerase chain reaction and cDNA expression vectors.

artículo científico publicado en 1995

Epitope analysis for human sperm-immobilizing monoclonal antibodies, MAb H6-3C4, 1G12 and campath-1.

artículo científico publicado en 2003

Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

artículo científico publicado en 2016

Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose.

artículo científico publicado en 2017

Low prevalence of genetic prenatal diagnosis in Japan

artículo científico publicado en 2011

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

scientific article published on 30 May 2018

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

artículo científico publicado en 2014

Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine

scientific article published on 01 January 2000

Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects.

artículo científico publicado en 2002

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

scientific article published on 01 December 2009

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan

scientific article published on 27 August 2019

Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.

artículo científico publicado en 2014

Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

artículo científico publicado en 2016

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

scientific article published on 01 January 1998

Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.

artículo científico publicado en 2017

Paternal occupational exposure to chemicals and secondary sex ratio: results from the Japan Environment and Children's Study

artículo científico publicado en 2019

Pig zona pellucida 2 (pZP2) protein does not participate in zona pellucida formation in transgenic mice.

artículo científico publicado en 2006

Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report

artículo científico publicado en 2009

Possible presence of O-linked carbohydrate in the human male reproductive tract CD52.

artículo científico publicado en 2004

Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography

artículo científico publicado en 2011

Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets

scientific article published on 01 November 1996

Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography

artículo científico publicado en 2010

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

scientific article published on 01 January 1999

Prenatal sonographic diagnosis of a fetal renal mesoblastic nephroma occurring after transfer of a cryopreserved embryo

artículo científico publicado en 1999

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

artículo científico publicado en 2010

Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

scientific article published on 17 February 2020

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

scientific article published on 01 January 2004

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

artículo científico publicado en 2012

Reproductive success in patients with Hallermann-Streiff syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2003

Stable production of recombinant human sperm immobilizing antibody using cDNA expression vectors.

artículo científico publicado en 1993

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

artículo científico publicado en 2014

Studies on the RT1.E locus of the rat major histocompatibility complex

scientific article published on 01 October 1993

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Lista de obras de

A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

A Case of a Pregnant Woman with Thrombosis in an Artificial Aortic Valve Resulting in Severe Cerebral Hemorrhage in the Newborn

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia

A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report

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

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

Bone morphogenetic protein-2 counterregulates interleukin-18 mRNA and protein in MC3T3-E1 mouse osteoblastic cells.

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services

Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT

Clinical Practice Guidelines for Hypophosphatasia

Cloning and expression of the rat class I MHC gene RT1.Al.

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

Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Current status of non-invasive prenatal testing in Japan.

Development of an integrated support system for hereditary cancer and its impact on gynecologic services.

Direct production of the Fab fragment derived from the sperm immobilizing antibody using polymerase chain reaction and cDNA expression vectors.

Epitope analysis for human sperm-immobilizing monoclonal antibodies, MAb H6-3C4, 1G12 and campath-1.

Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy

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

Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose.

Low prevalence of genetic prenatal diagnosis in Japan

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

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine

Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects.

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan

Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.

Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

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

Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.

Paternal occupational exposure to chemicals and secondary sex ratio: results from the Japan Environment and Children's Study

Pig zona pellucida 2 (pZP2) protein does not participate in zona pellucida formation in transgenic mice.

Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report

Possible presence of O-linked carbohydrate in the human male reproductive tract CD52.

Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography

Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets

Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography

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

Prenatal sonographic diagnosis of a fetal renal mesoblastic nephroma occurring after transfer of a cryopreserved embryo

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

Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

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

Reproductive success in patients with Hallermann-Streiff syndrome

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

Stable production of recombinant human sperm immobilizing antibody using cDNA expression vectors.

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

Studies on the RT1.E locus of the rat major histocompatibility complex

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

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.

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