Takaya Nakane

Takaya Nakane

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Takaya Nakane

Takaya Nakane

Publications by authors named "Takaya Nakane"

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33Publications

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A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset.

Pediatr Neonatol 2020 Feb 13;61(1):114-116. Epub 2019 Nov 13.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2019.11.003DOI Listing
February 2020

Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging.

Pediatr Neonatol 2019 08 16;60(4):461-462. Epub 2019 Feb 16.

Department of Pediatrics, Graduate School of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2019.02.001DOI Listing
August 2019

Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.

Pediatr Neonatol 2019 08 13;60(4):475-476. Epub 2019 Apr 13.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2019.04.005DOI Listing
August 2019

Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases.

Case Rep Psychiatry 2019 6;2019:7472301. Epub 2019 Aug 6.

Genetic Disease Medical Center, University of Yamanashi Hospital, Japan.

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http://dx.doi.org/10.1155/2019/7472301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699327PMC
August 2019

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.

Endocr J 2019 May 28;66(5):403-408. Epub 2019 Mar 28.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ18-0370DOI Listing
May 2019

A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation.

Pediatr Neonatol 2018 06 6;59(3):319-321. Epub 2017 Sep 6.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2017.09.004DOI Listing
June 2018

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.

Am J Med Genet A 2018 05;176(5):1222-1224

Department of Pediatrics, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38674DOI Listing
May 2018

Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease.

Pediatr Int 2018 Mar 26;60(3):307-308. Epub 2018 Feb 26.

Department of Pediatrics, Graduate School of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1111/ped.13489DOI Listing
March 2018

Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.

Clin Dysmorphol 2018 Jan;27(1):25-26

Department of Pediatrics, University of Yamanashi, Yamanashi.

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http://dx.doi.org/10.1097/MCD.0000000000000195DOI Listing
January 2018

Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.

Pediatr Int 2017 Oct 31;59(10):1098-1100. Epub 2017 Aug 31.

Department of Pediatrics, University of Yamanashi, Chuo, Yamanashi, Japan.

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http://dx.doi.org/10.1111/ped.13354DOI Listing
October 2017

Total energy intake accounts for postnatal anthropometric growth in moderately/late preterm infants.

J Matern Fetal Neonatal Med 2017 May 4;30(9):1080-1084. Epub 2016 Jul 4.

a Department of Pediatrics , Faculty of Medicine, University of Yamanashi , Yamanashi , Japan.

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https://www.tandfonline.com/doi/full/10.1080/14767058.2016.1
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http://dx.doi.org/10.1080/14767058.2016.1201473DOI Listing
May 2017

A Knotted Elemental Diet Tube in a Neonate: Serial Radiographs Demonstrating the Process of Loop Formation.

Pediatr Neonatol 2016 12 26;57(6):544-545. Epub 2016 Apr 26.

Neonatal Intensive Care Unit, University of Yamanashi Hospital, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2015.12.004DOI Listing
December 2016

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

Am J Med Genet A 2015 Dec 19;167A(12):3144-7. Epub 2015 Aug 19.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37295DOI Listing
December 2015

Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion.

Pediatr Hematol Oncol 2014 Oct 12;31(7):667-9. Epub 2014 Aug 12.

1Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

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http://www.tandfonline.com/doi/full/10.3109/08880018.2014.93
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http://dx.doi.org/10.3109/08880018.2014.935538DOI Listing
October 2014

Plasma levels of orexin-a and leptin in obese children.

Clin Pediatr Endocrinol 2004 7;13(1):47-53. Epub 2004 Jul 7.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Kofu, Japan.

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http://dx.doi.org/10.1297/cpe.13.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004913PMC
May 2014

Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21.

Am J Med Genet A 2014 Mar 17;164A(3):841-3. Epub 2014 Jan 17.

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36354DOI Listing
March 2014

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.

Pediatr Int 2013 Jun;55(3):376-81

Department of Pediatrics, University of Yamanashi, Chuo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2012.03729.xDOI Listing
June 2013

Transient isolated marked elevation of midregion parathyroid hormone fragments in an infant.

J Pediatr Endocrinol Metab 2012 ;25(9-10):1031-3

Department of Pediatrics, University of Yamanashi, Yamanashi, Japan.

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http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfe
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http://www.degruyter.com/view/j/jpem.2012.25.issue-9-10/jpem
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http://dx.doi.org/10.1515/jpem-2012-0147DOI Listing
April 2013

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.

Am J Med Genet A 2012 Jun 23;158A(6):1292-303. Epub 2012 Apr 23.

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35321DOI Listing
June 2012

[A case of recurrent paraneoplastic cerebellar ataxia with antibodies to GluR epsilon 2 causally related to ganglioneuroma].

No To Hattatsu 2010 Jul;42(4):297-301

Department of Pediatrics, Faculty of Medicine, Yamanashi University, Chuo, Yamanashi.

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July 2010

An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome.

Am J Med Genet A 2005 Sep;137A(3):305-7

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Tamaho-cho, Japan.

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http://dx.doi.org/10.1002/ajmg.a.30909DOI Listing
September 2005

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

Am J Med Genet A 2005 Sep;138(1):32-4

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.30593DOI Listing
September 2005

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Am J Med Genet A 2004 Aug;129A(1):69-72

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30071
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http://dx.doi.org/10.1002/ajmg.a.30071DOI Listing
August 2004

Decrease in serum adiponectin level due to obesity and visceral fat accumulation in children.

Obes Res 2003 Sep;11(9):1072-9

Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Iseigaoka, Kitakyushu, Japan.

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http://dx.doi.org/10.1038/oby.2003.147DOI Listing
September 2003

Type V hyperlipoproteinemia in systemic lupus erythematosus.

Pediatr Int 2003 Jun;45(3):352-4

Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1046/j.1442-200x.2003.01734.xDOI Listing
June 2003

Increased serum cholesteryl ester transfer protein in obese children.

Obes Res 2002 Jun;10(6):439-46

Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.

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http://dx.doi.org/10.1038/oby.2002.61DOI Listing
June 2002