H. Kurahashi

H. Kurahashi, Y. Sakamoto, H. Inagaki, 2018, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Failure of homologous synapsis and sex-specific reproduction problems

H. Kurahashi, M. Tsutsumi, H. Kogo, 2012, Front. Gene..

HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity

H. Kiyonari, H. Kurahashi, M. Tsutsumi, 2012, Genes to cells : devoted to molecular & cellular mechanisms.

Characterization of a Novel Mouse Gene Encoding an SYCP3-Like Protein That Relocalizes from the XY Body to the Nucleolus During Prophase of Male Meiosis I1

H. Kurahashi, M. Tsutsumi, H. Kogo, 2011, Biology of reproduction.

Frequent loss of heterozygosity at telomeric loci on 22q in sporadic colorectal cancers

H. Kurahashi, Takesada Mori, S. Takai, 1995, International journal of cancer.

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.

T. Tsukahara, I. Nonaka, I. Nishino, 2006, Human molecular genetics.

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-α2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

J. Sese, T. Tsukahara, I. Nishino, 2006 .

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

Y. Nakagawa, T. Tsukamoto, H. Kurahashi, 2018, International journal of cancer.

Fukutin and alpha-dystroglycanopathies.

H. Kurahashi, T. Toda, T. Endo, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Global gene expression profiling of renal scarring in a rat model of pyelonephritis

H. Kurahashi, M. Ichino, M. Kusaka, 2008, Pediatric Nephrology.

Upregulation of HtrA4 in the placentas of patients with severe pre-eclampsia.

H. Kurahashi, Y. Udagawa, T. Sekiya, 2012, Placenta.

Deficiency of Vgll2 Gene Alters the Gene Expression Profiling of Skeletal Muscle Subjected to Mechanical Overload

K. Tsuchida, Keisuke Hitachi, H. Kurahashi, 2019, Front. Sports Act. Living.

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

H. Kurahashi, R. Hashizume, Yasuji Kitabatake, 2022, Journal of Human Genetics.

Mutation analysis of the JUNO gene in female infertility of unknown etiology

H. Kurahashi, H. Inagaki, E. Hosoba, 2016 .

Microarray analysis of differentially expressed fetal genes in placental tissue derived from early and late onset severe pre-eclampsia.

H. Kurahashi, Y. Udagawa, H. Nishizawa, 2007, Placenta.

Angiotensin converting enzyme 2 gene expression increased compensatory for left ventricular remodeling in patients with end-stage heart failure.

T. Ismail, H. Kurahashi, H. Izawa, 2010, International journal of cardiology.

H. Kurahashi, M. Inoue, J. Hara, 1995, Clinical and experimental immunology.

Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient

H. Kurahashi, N. Kando, Komei Ito, 2014, Pediatric Pulmonology.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

R. Casadio, P. Striano, E. Aronica, 2021, Brain : a journal of neurology.

Mechanism of complex gross chromosomal rearrangements: A commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

H. Kurahashi, M. Tsutsumi, H. Kogo, 2011, Journal of Human Genetics.

Myoinositol to total choline ratio in IDH wild-type gliomas as a prognostic factor on preoperative magnetic resonance spectroscopy

Y. Ohno, H. Kurahashi, Masanobu Kumon, 2020 .

Longitudinal study of the vaginal microbiome in pregnancies involving preterm labor

H. Kurahashi, Asuka Kato, Takuma Fujii, 2021, Fujita medical journal.

Mixed phenotype of blasts in acute megakaryocytic leukaemia and transient abnormal myelopoiesis in Down's syndrome

H. Kurahashi, T. Nishiura, M. Inoue, 1992, British journal of haematology.

Deletion mapping of the long arm of chromosome 22 in human meningiomas

M. Monden, H. Kurahashi, Takesada Mori, 1995, International journal of cancer.

Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2020, Molecular genetics & genomic medicine.

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

H. Kurahashi, T. Yoshikawa, Susumu Hamada-Tsutsumi, 2020, BMC Cancer.

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

Yusuke Nakamura, H. Kurahashi, S. Ida, 1999, Journal of Human Genetics.

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.

H. Kurahashi, T. Yoshikawa, Y. Matsumoto, 2022, The Tohoku journal of experimental medicine.

Differential expression of caveolin-3 in mouse smooth muscle cells in vivo

H. Kurahashi, H. Kogo, T. Fujimoto, 2006, Cell and Tissue Research.

Gene expression profile in rat renal isografts from brain dead donors.

H. Kurahashi, A. Terauchi, M. Kusaka, 2005, Transplantation proceedings.

Identification of the gene responsible for gelatinous drop-like corneal dystrophy

Yusuke Nakamura, Toshihiro Tanaka, Y. Tano, 1999, Nature Genetics.

A unique TBX5 microdeletion with microinsertion detected in patient with Holt–Oram syndrome

H. Kurahashi, K. Masuda, I. Imoto, 2015, American journal of medical genetics. Part A.

Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome

H. Kurahashi, S. Ibara, H. Inagaki, 2018, American journal of medical genetics. Part A.

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

B. Emanuel, H. Kurahashi, 2001, Nature Genetics.

Analysis of Nitric Oxide Metabolism as a Placental or Maternal Factor Underlying the Etiology of Pre-Eclampsia

H. Kurahashi, Y. Udagawa, T. Sekiya, 2009, Gynecologic and Obstetric Investigation.

Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case

H. Kurahashi, Y. Shimizu, Y. Mizuno, 2014, Surgery Today.

High serum concentrations of lipopolysaccharide binding protein in pregnancies with pre-eclampsia

H. Kurahashi, Asuka Kato, Takuma Fujii, 2021, Hypertension Research in Pregnancy.

Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia

H. Kurahashi, Asuka Kato, Takuma Fujii, 2020, Journal of Reproduction & Infertility.

Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia.

H. Kurahashi, Asuka Kato, Takuma Fujii, 2020, Journal of reproduction & infertility.

Contribution of fetal ANXA5 gene promoter polymorphisms to the onset of pre-eclampsia.

H. Kurahashi, Y. Udagawa, H. Inagaki, 2013, Placenta.

Decreased expression of apelin in placentas from severe pre-eclampsia patients

H. Kurahashi, Y. Udagawa, T. Sekiya, 2013, Hypertension in pregnancy.

Impact of indoleamine 2,3-dioxygenase on the antioxidant system in the placentas of severely pre-eclamptic patients

H. Kurahashi, Y. Udagawa, T. Sekiya, 2011, Systems biology in reproductive medicine.

Genetic Variation in the Indoleamine 2,3‐Dioxygenase Gene in Pre‐eclampsia

H. Kurahashi, M. Tsutsumi, Y. Udagawa, 2010, American journal of reproductive immunology.

Characterization of the MG828507 lncRNA Located Upstream of the FLT1 Gene as an Etiology for Pre-Eclampsia

K. Tsuchida, Keisuke Hitachi, H. Kurahashi, 2022, Journal of clinical medicine.

Overproduction of the follistatin‐related gene protein in the placenta and maternal serum of women with pre‐eclampsia

H. Kurahashi, Y. Udagawa, H. Kogo, 2007, BJOG : an international journal of obstetrics and gynaecology.

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug‐related toxicity in patients with cancer

H. Kurahashi, T. Yoshikawa, Y. Maeda, 2020, Cancer science.

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

H. Kurahashi, Y. Hayabuchi, K. Suga, 2022, Human Genome Variation.

Serum neutrophil gelatinase associated lipocalin during the early postoperative period predicts the recovery of graft function after kidney transplantation from donors after cardiac death.

S. Marubashi, H. Nagano, H. Kurahashi, 2012, The Journal of urology.

Urinary neutrophil-gelatinase associated lipocalin is a potential noninvasive marker for renal scarring in patients with vesicoureteral reflux.

H. Kurahashi, M. Ichino, M. Kusaka, 2010, The Journal of urology.

Transient abnormal myelopoiesis in Down's syndrome.

H. Kurahashi, J. Hara, K. Yumura‐Yagi, 1992, Leukemia & lymphoma.

Familial cardiac septal defect due to a novel nine-base deletion in TBX20.

H. Kurahashi, H. Inagaki, Satoshi Hayano, 2022, Pediatrics international : official journal of the Japan Pediatric Society.

Novel polymorphisms in the βig-h3 gene

Y. Tano, H. Kurahashi, M. Tsujikawa, 1998, Journal of Human Genetics.

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

Y. Tano, N. Maeda, H. Kurahashi, 1998, American journal of human genetics.

Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

T. Tsukamoto, H. Kurahashi, A. Yagami, 2020, The Journal of dermatology.

Prostate Stem Cell Antigen Gene Polymorphism Is Associated with H. pylori–related Promoter DNA Methylation in Nonneoplastic Gastric Epithelium

Y. Nakagawa, T. Tsukamoto, H. Kurahashi, 2019, Cancer Prevention Research.

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

H. Kurahashi, L. Conlin, M. Tsutsumi, 2020, Journal of Human Genetics.

Increased urinary neutrophil gelatinase associated lipocalin levels in a rat model of upper urinary tract infection.

H. Kurahashi, M. Ichino, M. Kusaka, 2009, The Journal of urology.

Genomewide Expression Profiles of Rat Model Renal Isografts From Brain Dead Donors

H. Kurahashi, M. Kusaka, R. Shiroki, 2007, Transplantation.

The Etiological Role of Allogeneic Fetal Rejection in Pre‐Eclampsia

H. Kurahashi, K. Hasegawa, Kuniaki Saito, 2007, American journal of reproductive immunology.

Mouse model for allogeneic immune reaction against fetus recapitulates human pre‐eclampsia

H. Kurahashi, K. Hasegawa, Kuniaki Saito, 2007, The journal of obstetrics and gynaecology research.

Genomic Organization of the Human Chondromodulin‐1 Gene Containing a Promoter Region That Confers the Expression of Reporter Gene in Chondrogenic ATDC5 Cells

H. Kurahashi, K. Ozono, T. Michigami, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report

H. Kurahashi, H. Inagaki, T. Hamajima, 2022, JIMD reports.

Inactivation of the p53 Gene Is not Required for Tumorigenesis of Medullary Thyroid Carcinoma or Pheochromocytoma

H. Kurahashi, Takesada Mori, S. Takai, 1992, Japanese journal of cancer research : Gann.

A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6.

H. Kurahashi, T. Yoshikawa, H. Inagaki, 2016, Journal of virological methods.

Another critical region for deletion of 22q11: a study of 100 patients.

H. Kurahashi, I. Nishisho, M. Masuno, 1997, American journal of medical genetics.

Molecular basis of maternal age‐related increase in oocyte aneuploidy

H. Kurahashi, M. Tsutsumi, H. Kogo, 2012, Congenital anomalies.

Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.

Y. Tano, N. Maeda, H. Kurahashi, 1998, American journal of human genetics.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

H. Kurahashi, Y. Okuno, S. Kojima, 2019, International journal of cardiology.

Inherited chromosomally integrated human herpesvirus 6 is a risk factor for spontaneous abortion.

H. Yatsuya, H. Kurahashi, T. Yoshikawa, 2020, The Journal of infectious diseases.

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

H. Kurahashi, H. Inagaki, Takuma Fujii, 2016, Reproductive medicine and biology.

CDH1 Is a Specific Marker for Undifferentiated Spermatogonia in Mouse Testes1

H. Kurahashi, T. Marunouchi, Y. Kadokawa, 2007, Biology of reproduction.

Expression analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome.

H. Kurahashi, S. Ito, K. Toida, 2006, The journal of medical investigation : JMI.

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Fertility and sterility.

Global gene expression profiling in early-stage polycystic kidney disease in the Han:SPRD Cy rat identifies a role for RXR signaling.

H. Kurahashi, J. Calvet, S. Nagao, 2011, American journal of physiology. Renal physiology.

Deletion Mapping of Chromosome 1p and 22q in Pheochromocytoma

H. Kurahashi, K. Takami, Takesada Mori, 1993, Japanese journal of cancer research : Gann.

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

B. Roe, E. Zackai, T. Shaikh, 2000, Human molecular genetics.

Signature of backward replication slippage at the copy number variation junction

H. Kurahashi, H. Inagaki, T. Ohye, 2014, Journal of Human Genetics.

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

B. Emanuel, H. Kurahashi, L. Anderson, 2006, American journal of human genetics.

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2016, Front. Genet..

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

S. Dimauro, H. Kurahashi, R. Kaji, 2011, Nature.

HORMAD1‐dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

T. Abe, H. Kurahashi, M. Tsutsumi, 2012, Genes to cells : devoted to molecular & cellular mechanisms.

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

H. Kurahashi, I. Nishisho, M. Masuno, 1996, American journal of human genetics.

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

T. Shaikh, B. Emanuel, H. Kurahashi, 2001, Genetics in Medicine.

Isolation and characterization of a novel gene deleted in DiGeorge syndrome.

N. Niikawa, J. Inazawa, H. Kurahashi, 1995, Human molecular genetics.

Binlie! ic Inactivation of the APC Gene in Hepatoblastoma1

H. Kurahashi, K. Takami, A. Okada, 2006 .

Biallelic inactivation of the APC gene in hepatoblastoma.

H. Kurahashi, K. Takami, I. Nishisho, 1995, Cancer research.

Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events.

H. Kurahashi, M. Fukami, 2018, Methods in molecular biology.

Chromosomal translocations and palindromic AT-rich repeats.

B. Emanuel, H. Kurahashi, Takema Kato, 2012, Current opinion in genetics & development.

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2010, Human molecular genetics.

Recent advance in our understanding of the molecular nature of chromosomal abnormalities

H. Kurahashi, M. Tsutsumi, H. Kogo, 2009, Journal of Human Genetics.

Molecular cloning of a translocation breakpoint hotspot in 22q11.

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Genome research.

Palindromic AT‐rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates

T. Shaikh, H. Kurahashi, H. Kogo, 2005, Human mutation.

Cruciform DNA Structure Underlies the Etiology for Palindrome-mediated Human Chromosomal Translocations*

B. Emanuel, H. Kurahashi, T. Toda, 2004, Journal of Biological Chemistry.

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

T. Shaikh, B. Emanuel, H. Kurahashi, 2003, American journal of human genetics.

Long AT-rich palindromes and the constitutional t(11;22) breakpoint.

B. Emanuel, H. Kurahashi, Beverly S. Emanuel, 2001, Human molecular genetics.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

E. Zackai, T. Shaikh, B. Emanuel, 2000, American journal of human genetics.

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

B. Roe, T. Shaikh, P. Hu, 2000, Human molecular genetics.

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

H. Kurahashi, Y. Takeshima, H. Nishio, 2016, Journal of Human Genetics.

Microarray and Next Generation Sequencing

H. Kurahashi, Takema Kato, 2020 .

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

H. Kurahashi, Y. Makita, S. Mizuno, 2017, Cytogenetic and Genome Research.

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes

H. Kurahashi, M. Tsutsumi, T. Toda, 2012, Journal of Human Genetics.

Monoclonal nature of transient abnormal myelopoiesis in Down's syndrome.

H. Kurahashi, M. Inoue, J. Hara, 1991, Blood.

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

H. Kurahashi, Toshiyuki Yamamoto, M. Irahara, 2019, Human reproduction.

Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotyping

Y. Morimoto, H. Kurahashi, Hideki Suzuki, 2022, Reproductive medicine and biology.

H. Kurahashi, T. Endo, T. Mariya, 2022, Systems Biology in Reproductive Medicine.

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2019, European journal of medical genetics.

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2013, Nature Communications.

Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction

H. Kurahashi, Y. Udagawa, T. Sekiya, 2011, Reproductive biology and endocrinology : RB&E.

Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease.

H. Kurahashi, S. Nagao, K. Nishii, 2005, Journal of the American Society of Nephrology.

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.

B. Emanuel, H. Kurahashi, T. Glover, 2014, Cancer genetics.

Genetic Variation Affects de Novo Translocation Frequency

B. Emanuel, H. Kurahashi, H. Kogo, 2006, Science.

A rare synaptonemal complex protein 3 gene variant in unexplained female infertility.

H. Kurahashi, N. Iwata, Y. Udagawa, 2011, Molecular human reproduction.

Mutations of the SYCP3 gene in women with recurrent pregnancy loss.

H. Kurahashi, M. Tsutsumi, Y. Udagawa, 2009, American journal of human genetics.

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

H. Kurahashi, M. Tsutsumi, T. Toda, 2010, Journal of Human Genetics.

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype

H. Kurahashi, T. Toda, H. Kano, 2007, Proceedings of the National Academy of Sciences.

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

H. Kurahashi, K. Horibe, M. Tsutsumi, 2019, BMC Medical Genomics.

Clinical significance of CD7‐positive stem cell leukemia. A distinct subtype of mixed lineage leukemia

H. Kurahashi, J. Okamura, T. Nishiura, 1991, Cancer.

The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure.

H. Kurahashi, Ewelina Bolcun-Filas, J. Schimenti, 2017, Molecular cell.

A single checkpoint pathway eliminates mouse oocytes with dna damage or chromosome synapsis failure

H. Kurahashi, Ewelina Bolcun-Filas, J. Schimenti, 2017, bioRxiv.

H. Kurahashi, M. Tsutsumi, H. Kogo, 2014, PloS one.

Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss.

H. Kurahashi, Y. Udagawa, I. Yanagihara, 2011, Molecular human reproduction.

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

H. Kurahashi, Toshiyuki Yamamoto, M. Irahara, 2020, Human reproduction.

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

T. Shaikh, B. Emanuel, H. Kurahashi, 2009, Genome research.

Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound

H. Kurahashi, M. Kuroda, N. Aida, 2018, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Successful living donor liver transplantation for classical maple syrup urine disease

H. Kurahashi, T. Yoshikawa, A. Sugioka, 2016, Pediatric transplantation.

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia

H. Kurahashi, M. Ikeda, N. Iwata, 2013, Scientific Reports.

A Turner syndrome case associated with dic(Y;22)

H. Kurahashi, H. Inagaki, M. Yamada, 2021, Molecular cytogenetics.

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2011, Molecular Cytogenetics.

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements

H. Kurahashi, M. Tsutsumi, H. Kogo, 2010, Clinical genetics.

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

E. Zackai, L. Medne, B. Emanuel, 2010, European Journal of Human Genetics.

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2009, Human molecular genetics.

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Nucleic acids research.

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

H. Kurahashi, S. Mizuno, Toshiyuki Yamamoto, 2020, Human Genetics.

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2018, BMC Medical Genetics.

Palindrome-mediated chromosomal translocations in humans.

B. Emanuel, H. Kurahashi, H. Kogo, 2006, DNA repair.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

Clinical utility of target capture‐based panel sequencing in hematological malignancies: A multicenter feasibility study

K. Karube, Y. Shiraishi, S. Ogawa, 2020, Cancer science.

Two different forms of palindrome resolution in the human genome: deletion or translocation.

B. Emanuel, H. Kurahashi, H. Kogo, 2008, Human molecular genetics.

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations

H. Kurahashi, T. Ogata, T. Kamimaki, 2017, Cytogenetic and Genome Research.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency.

T. Morio, H. Kurahashi, M. Takagi, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Decreased frequency of seizures in infantile spasms associated with lissencephaly by human herpes virus 7 infection

H. Kurahashi, J. Ono, K. Imai, 2002, Pediatrics international : official journal of the Japan Pediatric Society.

Chromosomally integrated human herpesvirus 6 in the Japanese population

H. Kurahashi, T. Yoshikawa, Y. Kawamura, 2018, Journal of medical virology.

Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population.

H. Kurahashi, T. Yoshikawa, Y. Kawamura, 2017, The Journal of general virology.

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2015, Human Genome Variation.

Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6

H. Kurahashi, T. Yoshikawa, S. Kojima, 2014, Scientific Reports.

Chromosomal Translocations Mediated by Palindromic DNA

B. Emanuel, H. Kurahashi, H. Kogo, 2006, Cell cycle.

Myogenin promoter‐associated lncRNA Myoparr is essential for myogenic differentiation

K. Tsuchida, M. Nakatani, Keisuke Hitachi, 2019, EMBO reports.

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

M. Sonoo, H. Kurahashi, K. Matsumura, 2020, Molecular therapy. Methods & clinical development.

Mutation analysis of a Japanese patient with fucosidosis

H. Kurahashi, L. Fu, K. Inui, 1999, Journal of Human Genetics.

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3‐related disorders

H. Kurahashi, Asuka Kato, Takuma Fujii, 2019, Congenital anomalies.

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

H. Kurahashi, H. Inagaki, I. Yanagihara, 2019, Journal of Human Genetics.

Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the Smart Amplification Process (SmartAmp) method.

Y. Hayashizaki, T. Ishikawa, T. Mori, 2010, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Construction of radiation-reduced hybrids and their use in mapping of microclones from chromosome 10p11.2-q11.2

Y. Kaneda, H. Kurahashi, Takesada Mori, 1993, Japanese Journal of Human Genetics.

Authors' response to the letter of Nagirnaja et al., "Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?".

E. Grandone, H. Kurahashi, N. Bogdanova, 2016, Reproductive biomedicine online.

Myoinositol to Total Choline Ratio in Glioblastomas as a Potential Prognostic Factor in Preoperative Magnetic Resonance Spectroscopy

Y. Ohno, H. Kurahashi, Masanobu Kumon, 2021, Neurologia medico-chirurgica.

Serum liver‐type fatty acid‐binding protein predicts recovery of graft function after kidney transplantation from donors after cardiac death

J. Ishii, H. Kurahashi, F. Kitagawa, 2014, Clinical transplantation.

Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death.

H. Kurahashi, M. Kusaka, R. Shiroki, 2009, Cell Transplantation.

Increased levels of soluble corin in pre-eclampsia and fetal growth restriction.

H. Kurahashi, K. Shiogama, Takuma Fujii, 2016, Placenta.

CD9 Gene Variations Are Not Associated with Female Infertility in Humans

H. Kurahashi, N. Iwata, Y. Udagawa, 2009, Gynecologic and Obstetric Investigation.

Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza.

H. Kurahashi, S. Kojima, T. Morishima, 2006, The Journal of general virology.

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain

H. Kurahashi, Masanobu Kumon, Y. Hirose, 2017, Oncotarget.

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.

Yusuke Nakamura, T. Fujikado, Y. Sunada, 2003, Human molecular genetics.

Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathy

Y. Sunada, H. Kurahashi, T. Terashima, 2003 .

Fukuyama-type Congenital Muscular Dystrophy and Abnormal Glycosylation of α-Dystroglycan

Y. Sunada, H. Kurahashi, T. Terashima, 2003 .

[Single gene disorder].

H. Kurahashi, Mariko Taniguchi, 2005, Nihon rinsho. Japanese journal of clinical medicine.

Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin.

H. Kurahashi, J. Calvet, S. Nagao, 2010, American journal of physiology. Renal physiology.

An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy

K. Tsuchida, M. Nakatani, Keisuke Hitachi, 2021, International journal of molecular sciences.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2010, American journal of human genetics.

Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events

H. Kurahashi, S. Komoto, K. Taniguchi, 2015, PloS one.

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2018, Scientific Reports.

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia

H. Kurahashi, K. Shiraishi, S. Katsura, 2022, The Journal of dermatology.

Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)

Yusuke Nakamura, H. Kurahashi, J. Ono, 1998, Human Genetics.

Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand

H. Kurahashi, S. Komoto, K. Taniguchi, 2015, PloS one.

Title Genotype determination of the OPN 1 LW / OPN 1 MW genes : novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2019 .

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2018, Scientific Reports.

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

H. Kurahashi, M. Tsutsumi, S. Mizuno, 2020, Cytogenetic and Genome Research.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

T. Akiyama, H. Kurahashi, T. Yoshikawa, 2019, Molecular Genetics and Metabolism Reports.

Microdeletion 22q11.2: clinical data and deletion size

C. Cytrynbaum, T. Scheidl, B. Emanuel, 1997, Journal of medical genetics.

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Y. Fukushima, B. Emanuel, H. Kurahashi, 2014, Molecular Cytogenetics.

Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result

H. Kurahashi, M. Tsutsumi, H. Inagaki, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

H. Kurahashi, S. Mizuno, H. Inagaki, 2022, Journal of Human Genetics.

syndrome Monoclonal nature of transient abnormal myelopoiesis in Down's

H. Kurahashi, M. Inoue, J. Hara, 2011 .

RAPID COMMUNICATION Monoclonal Nature of Transient Abnormal Myelopoiesis in Down’s Syndrome

H. Kurahashi, M. Inoue, J. Hara, 2003 .

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

H. Kurahashi, M. Tsutsumi, K. Shiogama, 2018, BMC Medical Genetics.

Prenatal genetic testing for familial severe congenital protein C deficiency

H. Kurahashi, T. Toda, S. Kawano, 2015, Human Genome Variation.

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report

H. Kurahashi, T. Yoshikawa, M. Tsutsumi, 2022, JIMD reports.

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant

H. Kurahashi, H. Inagaki, Y. Kato, 2022, Congenital anomalies.

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

H. Kurahashi, T. Kinoshita, D. Motooka, 2016, American journal of medical genetics. Part A.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

H. Kurahashi, K. Masuda, I. Imoto, 2017, Molecular Cytogenetics.

Up-regulation of osteopontin, chemokines, adhesion molecule, and heat shock proteins in 1-hour biopsy from cardiac death donor kidneys.

H. Kurahashi, M. Kusaka, R. Shiroki, 2006, Transplantation proceedings.

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia

H. Kurahashi, H. Nishio, N. Okamoto, 2018, Clinical genetics.

MTA3 regulates CGB5 and Snail genes in trophoblast.

H. Kurahashi, R. Leach, Kai Wang, 2013, Biochemical and biophysical research communications.

Calcium channel inhibition accelerates polycystic kidney disease progression in the Cy/+ rat.

H. Kurahashi, J. Calvet, S. Nagao, 2008, Kidney international.

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

J. Dumanski, H. Kurahashi, S. Takai, 1994, Human Genetics.

Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

H. Kurahashi, M. Sumitomo, R. Shiroki, 2022, Human Genome Variation.

Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease

H. Kurahashi, H. Inagaki, T. Baba, 2023, Prenatal diagnosis.

Refined mapping of eight cosmid markers on human chromosome 22

G. Thomas, O. Delattre, T. Melot, 1994, Japanese Journal of Human Genetics.

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

T. Tsunoda, H. Kurahashi, M. Yamasaki, 2015, Scientific Reports.

A constitutional jumping translocation involving the Y and acrocentric chromosomes

H. Kurahashi, H. Tonoki, M. Tsutsumi, 2018, Asian journal of andrology.

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Katsuhiro Kobayashi, T. Akiyama, H. Kurahashi, 2019, Brain and Development.

Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

H. Kurahashi, J. Ono, S. Okada, 1998, Brain and Development.

Coinfection With Human Herpesvirus (HHV)-6B in Immunocompetent, Healthy Individuals With Chromosomally Integrated HHV-6A.

H. Kurahashi, T. Yoshikawa, Y. Kawamura, 2020, Journal of the Pediatric Infectious Diseases Society.

Virological analysis of inherited chromosomally integrated human herpesvirus‐6 in three hematopoietic stem cell transplant patients

H. Kurahashi, T. Yoshikawa, S. Kojima, 2015, Transplant infectious disease : an official journal of the Transplantation Society.

Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease

T. Abe, H. Kurahashi, J. Calvet, 2012, PPAR research.

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

H. Kurahashi, Y. Matsumoto, Y. Ikezumi, 2022, Tohoku journal of experimental medicine.

Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome.

H. Kurahashi, K. Ozono, K. Inui, 2001, The Journal of pediatrics.

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

H. Kurahashi, T. Yoshikawa, H. Inagaki, 2019, European journal of medical genetics.

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti

H. Kurahashi, S. Kanai, T. Okanishi, 2021, Brain and Development.

A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan

H. Kurahashi, M. Tsutsumi, S. Nakata, 2012, The Laryngoscope.

Lack of association between orexin receptor gene polymorphisms and obstructive sleep apnea syndrome in Japanese

H. Kurahashi, S. Nakata, Terumi Mori, 2011 .

Nine‐year follow‐up in a child with chromosomal integration of human herpesvirus 6 transmitted from an unrelated donor through the Japan Marrow Donor Program

H. Kurahashi, T. Yoshikawa, H. Shichino, 2015, Transplant infectious disease : an official journal of the Transplantation Society.

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.

Y. Sunada, H. Kurahashi, T. Terashima, 2003, Congenital anomalies.

A PDE3A mutation in familial hypertension and brachydactyly syndrome

H. Kurahashi, T. Yoshikawa, H. Inagaki, 2016, Journal of Human Genetics.

PCSK5 mutation in a patient with the VACTERL association

H. Terai, N. Iwasaki, H. Kurahashi, 2015, BMC Research Notes.

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report

H. Kurahashi, Takema Kato, M. Kawai, 2022, BMC Pediatrics.

Potentially effective method for fetal gender determination by noninvasive prenatal testing for X‐linked disease

H. Kurahashi, Asuka Kato, Takuma Fujii, 2018, Congenital anomalies.

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Y. Wada, H. Kurahashi, I. Yuasa, 2019, JIMD reports.

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

T. Tsunoda, H. Kurahashi, M. Yamasaki, 2016, European Journal of Human Genetics.

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

H. Kurahashi, H. Inagaki, J. Murotsuki, 2019, Case reports in obstetrics and gynecology.

Coexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation

H. Kurahashi, Y. Hirose, A. Sadato, 2021, Clinical Neurology and Neurosurgery.

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

H. Kurahashi, S. Mishra, Y. Sakai, 2017, Journal of Human Genetics.

Dual-color FISH analysis of breakpoints on robertsonian translocations

Yusuke Nakamura, H. Kurahashi, Yuri Takahashi, 1997, Japanese Journal of Human Genetics.

Deletion mapping of the long arm of chromosome 22 in human meningiomas

M. Monden, H. Kurahashi, S. Takai, 1995, International journal of cancer.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

H. Kurahashi, Hanns Lochmüller, T. Evangelista, 2017, Neurology: Genetics.

Candidate genes for male factor infertility--validation.

H. Kurahashi, T. Toda, T. Iwamoto, 2006, Fertility and sterility.

Increased levels of nectin-4 as a serological marker for pre-eclampsia

H. Kurahashi, Takuma Fujii, T. Sekiya, 2022, Fujita medical journal.

Genetic Variation in the Indoleamine 2,3‐Dioxygenase Gene in Pre‐eclampsia (Reply)

H. Kurahashi, H. Nishizawa, 2010 .

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

H. Kurahashi, H. Sameshima, Takema Kato, 2018, The journal of obstetrics and gynaecology research.

Genetic Variation in the Indoleamine 2,3‐Dioxygenase Gene in Pre‐eclampsia

H. Kurahashi, M. Tsutsumi, Y. Udagawa, 2010, American Journal of Reproductive Immunology.

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

H. Kurahashi, H. Inagaki, I. Yanagihara, 2019, Journal of Human Genetics.

Multistep carcinogenesis in colorectal cancers.

H. Kurahashi, K. Takami, I. Nishisho, 1995, The Southeast Asian journal of tropical medicine and public health.

Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients.

H. Kurahashi, Y. Udagawa, H. Kogo, 2008, Molecular human reproduction.

Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin.

H. Kurahashi, J. Calvet, S. Nagao, 2010, American journal of physiology. Renal physiology.

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

H. Kurahashi, H. Ohashi, S. Mizuno, 2023, Human Genetics.

Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

H. Kurahashi, M. Kuroda, H. Inagaki, 2015, BMC Medical Genetics.