Koh-Ichiro Yoshiura

Koh-Ichiro Yoshiura

UNVERIFIED PROFILE

Are you Koh-Ichiro Yoshiura?   Register this Author

Register author
Koh-Ichiro Yoshiura

Koh-Ichiro Yoshiura

Publications by authors named "Koh-Ichiro Yoshiura"

Are you Koh-Ichiro Yoshiura?   Register this Author

100Publications

1761Reads

14Profile Views

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

J Hum Genet 2019 May 22;64(5):467-471. Epub 2019 Feb 22.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0581-9DOI Listing
May 2019

Nonsense mutation in causes normal-pressure hydrocephalus with ciliary abnormalities.

Neurology 2019 May 19;92(20):e2364-e2374. Epub 2019 Apr 19.

From the Departments of Neuropsychiatry (Y.M., N.Y., H.O.) and Otolaryngology-Head and Neck Surgery (C.S.), Unit of Translation Medicine, and Department of Human Genetics (S.Y., A.K., H.M., K.-i.Y., S.O.), Nagasaki University Graduate School of Biomedical Sciences; Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute (K.M., M.N.), Central Laboratory, Institute of Tropical Medicine (NEKKEN) (M.S.), and Gene Research Center, Center for Frontier Life Sciences (T.K.), Nagasaki University; Department of Infectious Diseases (T.T.) and Child and Adolescent Psychiatry Community Partnership Unit (A.I.), Nagasaki University Hospital; Department of Cell Pathology (Y.K.), Graduate School of Medical Sciences, Kumamoto University; and Department of Clinical Psychology, Faculty of Medicine (N.K.), Kagawa University, Takamatsu, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007505DOI Listing
May 2019

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

J Hum Genet 2019 Apr 28;64(4):341-346. Epub 2019 Jan 28.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8501, Japan.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s10038-019-0566-8
Publisher Site
http://dx.doi.org/10.1038/s10038-019-0566-8DOI Listing
April 2019

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Eur J Med Genet 2018 Oct 17;61(10):631-633. Epub 2018 Apr 17.

Department of Pediatrics, Oita University Faculty of Medicine, Japan. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173034
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.04.008DOI Listing
October 2018

Reference values for circulating pregnancy-associated microRNAs in maternal plasma and their clinical usefulness in uncomplicated pregnancy and hypertensive disorder of pregnancy.

J Obstet Gynaecol Res 2018 May 8;44(5):840-851. Epub 2018 Mar 8.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jog.13610DOI Listing
May 2018

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing.

J Hum Genet 2018 Mar 26;63(3):357-363. Epub 2017 Dec 26.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Atomic Bomb Disease Institute, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-017-0392-9DOI Listing
March 2018

Novel compound heterozygous variants in the gene in a patient with Alazami syndrome.

Hum Genome Var 2018 29;5:18014. Epub 2018 Mar 29.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2018.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874394PMC
March 2018

Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.

Br J Haematol 2018 02 19;180(3):381-390. Epub 2017 Dec 19.

Department of Haematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.15050DOI Listing
February 2018

Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

J Hum Genet 2017 Nov 27;62(11):989-995. Epub 2017 Jul 27.

Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.79DOI Listing
November 2017

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hum Biol 2017 10;89(4):305-307

1 Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan.

View Article

Download full-text PDF

Source
October 2017

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.

J Hum Genet 2017 Sep 27;62(9):803-808. Epub 2017 Apr 27.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.45DOI Listing
September 2017

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

J Hum Genet 2017 Jul 23;62(7):717-721. Epub 2017 Mar 23.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.33DOI Listing
July 2017

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.

Hum Genome Var 2017 27;4:17032. Epub 2017 Jul 27.

Department of Neuropsychiatry, Unit of Translation Medicine Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2017.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529667PMC
July 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.

Am J Med Genet A 2017 Jan 23;173(1):217-220. Epub 2016 Sep 23.

Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37978DOI Listing
January 2017

Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child.

Horm Behav 2017 01 13;87:47-56. Epub 2016 Oct 13.

Department of Neurobiology and Behavior, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yhbeh.2016.09.010DOI Listing
January 2017

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Plast Reconstr Surg Glob Open 2016 Dec 22;4(12):e1185. Epub 2016 Dec 22.

Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka, Japan; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; and Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GOX.0000000000001185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222673PMC
December 2016

Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature.

Diagn Pathol 2016 Oct 22;11(1):101. Epub 2016 Oct 22.

Departments of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University, 1-12-4 Sakamoto, Nagasaki, 852-8523, Japan.

View Article

Download full-text PDF

Source
http://diagnosticpathology.biomedcentral.com/articles/10.118
Publisher Site
http://dx.doi.org/10.1186/s13000-016-0554-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075201PMC
October 2016

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Nephrology (Carlton) 2016 Sep;21(9):765-73

Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nep.12666DOI Listing
September 2016

Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin.

Endocr Pathol 2016 Sep;27(3):179-87

Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852 8523, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12022-016-9436-5DOI Listing
September 2016

A Japanese family with popliteal pterygium syndrome.

Case Reports Plast Surg Hand Surg 2015 24;2(3-4):50-2. Epub 2015 Apr 24.

Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/23320885.2015.1038347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793797PMC
June 2016

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

Pediatr Int 2016 May;58(5):431-3

Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.12924DOI Listing
May 2016

Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever.

Medicine (Baltimore) 2016 Apr;95(16):e3449

From the Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences (TK, MU, FN, S-YK, NI, KI, MT, HN, TO, AK), Nagasaki; Department of Rheumatology and Clinical Research Center (KM), Nagasaki Medical Center, Omura; Nagasaki University Hospital (SS), Clinical Research Center, Nagasaki; Department of Internal Medicine (FN), Sasebo City General Hospital; Center for Rheumatic Disease (YU, KE), Sasebo Chuo Hospital, Sasebo; Department of Pathology (JM), Ehime University Graduate School of Medicine and Proteo-Science Center, Toon, Ehime; Department of Infectious Immunology (KA), Shinshu University, Graduate School of Medicine, Matsumoto; Department of Pediatrics (AY), School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa; and Department of Human Genetics (K-IY), Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000003449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845848PMC
April 2016

Increased Levels of Cell-Free miR-517a and Decreased Levels of Cell-Free miR-518b in Maternal Plasma Samples From Placenta Previa Pregnancies at 32 Weeks of Gestation.

Reprod Sci 2015 Dec 2;22(12):1569-76. Epub 2015 Jun 2.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1933719115589407DOI Listing
December 2015

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Mol Genet Metab Rep 2015 Dec 2;5:26-32. Epub 2015 Oct 2.

Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki, Nagasaki 852-8523, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471402PMC
December 2015

Germline mutations causing familial lung cancer.

J Hum Genet 2015 Oct 16;60(10):597-603. Epub 2015 Jul 16.

Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.75DOI Listing
October 2015

A novel diagnostic method targeting genomic instability in intracystic tumors of the breast.

Breast Cancer 2015 Sep 9;22(5):529-35. Epub 2014 Jan 9.

Department of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Fukuoka, 811-1395, Japan,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12282-013-0516-9DOI Listing
September 2015

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Pediatr Int 2015 Aug 5;57(4):726-8. Epub 2015 May 5.

Division of Developmental Disability, Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.12574DOI Listing
August 2015

Circulating levels of maternal plasma cell-free miR-21 are associated with maternal body mass index and neonatal birth weight.

Prenat Diagn 2015 May 14;35(5):509-11. Epub 2014 Nov 14.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4509DOI Listing
May 2015

Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy.

Fertil Steril 2015 May 13;103(5):1202-8.e1. Epub 2015 Mar 13.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2015.01.041DOI Listing
May 2015

Effect of labor on plasma concentrations and postpartum clearance of cell-free, pregnancy-associated, placenta-specific microRNAs.

Prenat Diagn 2015 Jan 17;35(1):44-50. Epub 2014 Sep 17.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.4479
Publisher Site
http://dx.doi.org/10.1002/pd.4479DOI Listing
January 2015

Genome-wide association study of HPV-associated cervical cancer in Japanese women.

J Med Virol 2014 Jul 4;86(7):1153-8. Epub 2014 Apr 4.

Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmv.23943DOI Listing
July 2014

ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion.

Acta Histochem Cytochem 2014 Jun 18;47(3):85-94. Epub 2014 Jun 18.

Division of Surgical Oncology, Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1267/ahc.13040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164699PMC
June 2014

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.

J Hum Genet 2014 May 13;59(5):251-5. Epub 2014 Feb 13.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.9DOI Listing
May 2014

Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome.

Prenat Diagn 2014 Apr 17;34(4):345-9. Epub 2014 Jan 17.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4307DOI Listing
April 2014

Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma.

Gynecol Oncol 2014 Mar 31;132(3):715-21. Epub 2014 Jan 31.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygyno.2014.01.029DOI Listing
March 2014

Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix.

J Med Virol 2013 Dec 19;85(12):2093-100. Epub 2013 Aug 19.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmv.23709DOI Listing
December 2013

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.

J Hum Genet 2013 May 7;58(5):250-3. Epub 2013 Mar 7.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2013.7DOI Listing
May 2013

Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy.

Prenat Diagn 2013 Mar 27;33(3):214-22. Epub 2013 Jan 27.

Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4045DOI Listing
March 2013

[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].

Seikagaku 2013 Mar;85(3):133-44

Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Atomic Bomb Disease Institute, Nagasaki University, 1-12-4, Sakamoto, Nagasaki-shi, Nagasaki 852-8523, Japan.

View Article

Download full-text PDF

Source
March 2013

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

Gene 2013 Jan 27;512(2):267-74. Epub 2012 Oct 27.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2012.10.035DOI Listing
January 2013

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Front Genet 2012 2;3:306. Epub 2013 Jan 2.

Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology Yokohama, Japan ; Omics Science Center, RIKEN Yokohama Institute Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2012.00306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539816PMC
January 2013

No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population.

Cleft Palate Craniofac J 2012 Nov 7;49(6):714-7. Epub 2011 Oct 7.

Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1597/10-242
Publisher Site
http://dx.doi.org/10.1597/10-242DOI Listing
November 2012

The Ruby UCSC API: accessing the UCSC genome database using Ruby.

BMC Bioinformatics 2012 Sep 21;13:240. Epub 2012 Sep 21.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, Nagasaki, 852-8523, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2105-13-240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542311PMC
September 2012

[109th Scientific Meeting of the Japanese Society of Internal Medicine: educational lecture: 14. Autoinflammatory syndrome].

Nihon Naika Gakkai Zasshi 2012 Sep;101(9):2733-9

Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Japan.

View Article

Download full-text PDF

Source
September 2012

Clinical and molecular analysis of synchronous double lung cancers.

Lung Cancer 2012 Aug 3;77(2):281-7. Epub 2012 May 3.

Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, Nagasaki 852-8501, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lungcan.2012.04.003DOI Listing
August 2012

[Nakajo-Nishimura syndrome].

Nihon Rinsho Meneki Gakkai Kaishi 2011 ;34(5):388-400

Department of Dermatology, Wakayama Medical University.

View Article

Download full-text PDF

Source
February 2012

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization.

Radiat Oncol 2011 Dec 7;6:168. Epub 2011 Dec 7.

Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://ro-journal.biomedcentral.com/articles/10.1186/1748-71
Publisher Site
http://dx.doi.org/10.1186/1748-717X-6-168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280193PMC
December 2011

Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology.

J Obstet Gynaecol Res 2011 Nov 27;37(11):1666-70. Epub 2011 Jul 27.

Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Sakamoto, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1447-0756.2011.01601.xDOI Listing
November 2011

Agile parallel bioinformatics workflow management using Pwrake.

BMC Res Notes 2011 Sep 8;4:331. Epub 2011 Sep 8.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1756-0500-4-331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180464PMC
September 2011

Epidemiology of human papillomavirus genotypes in pregnant Japanese women.

J Hum Genet 2011 Apr 10;56(4):313-5. Epub 2011 Feb 10.

Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2011.11DOI Listing
April 2011

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.

Eur J Med Genet 2010 Sep-Oct;53(5):244-9. Epub 2010 Jun 22.

Departments of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.06.007DOI Listing
January 2011

Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11.

Anticancer Res 2010 Dec;30(12):5189-94

Department of Gastroenterological Surgery, Yokohama City University Graduate School of Medicine, Yokohama City University Medical Center, Yokohama, Japan.

View Article

Download full-text PDF

Source
December 2010

Identification of pregnancy-associated microRNAs in maternal plasma.

Clin Chem 2010 Nov 20;56(11):1767-71. Epub 2010 Aug 20.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2010.147660DOI Listing
November 2010

Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.

Twin Res Hum Genet 2010 Oct;13(5):455-60

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1375/twin.13.5.455DOI Listing
October 2010

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.

Prenat Diagn 2010 Sep;30(9):849-61

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2570DOI Listing
September 2010

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Am J Med Genet A 2010 Sep;152A(9):2262-7

Department of Oral and Maxillofacial Surgery, Okazaki City Hospital, Okazaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33338DOI Listing
September 2010

[Monogenic inheritance disorder].

Nihon Rinsho 2010 Aug;68 Suppl 8:7-12

Department of Human Genetics, Nagasaki University Graduate School of Medicine.

View Article

Download full-text PDF

Source
August 2010

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.

Hum Reprod 2010 Apr 6;25(4):1076-80. Epub 2010 Feb 6.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/deq006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560031PMC
April 2010

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

J Hum Genet 2010 Mar 29;55(3):142-6. Epub 2010 Jan 29.

Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2009.141DOI Listing
March 2010