Toshihiro Tajima

Toshihiro Tajima

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Toshihiro Tajima

Publications by authors named "Toshihiro Tajima"

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Correction to: Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

CEN Case Rep 2020 Aug;9(3):294

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa, 2‑138‑4, Minami‑ku, Yokohama, 232‑8555, Japan.

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http://dx.doi.org/10.1007/s13730-020-00477-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320077PMC
August 2020

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.

J Clin Endocrinol Metab 2020 Aug;105(8)

Department of Pediatrics, Jichi Children's Medical Center Tochigi, Shimotsuke, Japan.

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http://dx.doi.org/10.1210/clinem/dgaa308DOI Listing
August 2020

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

CEN Case Rep 2020 May 3;9(2):133-137. Epub 2020 Jan 3.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa, 2-138-4, Minami-ku, Yokohama, 232-8555, Japan.

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http://dx.doi.org/10.1007/s13730-019-00441-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148393PMC
May 2020

Recent advances in research on isolated congenital central hypothyroidism.

Clin Pediatr Endocrinol 2019 20;28(3):69-79. Epub 2019 Jul 20.

Jichi Medical University Children's Medical Center Tochigi, Shimotsuke, Japan.

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http://dx.doi.org/10.1297/cpe.28.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646241PMC
July 2019

Health problems of adolescent and adult patients with 21-hydroxylase deficiency.

Authors:
Toshihiro Tajima

Clin Pediatr Endocrinol 2018 30;27(4):203-213. Epub 2018 Oct 30.

Jichi Medical University Children's Medical Center Tochigi, Tochigi, Japan.

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https://www.jstage.jst.go.jp/article/cpe/27/4/27_2018-0012/_
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http://dx.doi.org/10.1297/cpe.27.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207803PMC
October 2018

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the Mutations.

Case Rep Pediatr 2018 3;2018:6561952. Epub 2018 Jul 3.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan.

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http://dx.doi.org/10.1155/2018/6561952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057286PMC
July 2018

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.

J Pediatr Endocrinol Metab 2018 Mar;31(3):355-359

Department of Pediatrics, Jichi Children's Medical Center, Yakishiji, Shimotsuke, Tochigi, Japan.

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http://www.degruyter.com/view/j/jpem.2018.31.issue-3/jpem-20
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http://dx.doi.org/10.1515/jpem-2017-0144DOI Listing
March 2018

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

Pediatr Diabetes 2017 Dec 8;18(8):934-941. Epub 2017 Mar 8.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1111/pedi.12513DOI Listing
December 2017

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genet Med 2017 12 31;19(12):1356-1366. Epub 2017 May 31.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1038/gim.2017.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729347PMC
December 2017

A newborn with combined pituitary hormone deficiency developing shock and sludge.

J Pediatr Endocrinol Metab 2017 Nov;30(12):1333-1336

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http://dx.doi.org/10.1515/jpem-2017-0203DOI Listing
November 2017

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

Clin Pediatr Endocrinol 2017 28;26(4):259-263. Epub 2017 Sep 28.

Jichi Children's Medical Center Tochigi, Tochigi, Japan.

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http://dx.doi.org/10.1297/cpe.26.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627227PMC
September 2017

Clinical features and molecular basis of pseudohypoaldosteronism type 1.

Clin Pediatr Endocrinol 2017 27;26(3):109-117. Epub 2017 Jul 27.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.26.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537208PMC
July 2017

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

Hum Mutat 2017 01 21;38(1):39-42. Epub 2016 Sep 21.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/humu.23116DOI Listing
January 2017

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

Thyroid 2016 12 21;26(12):1701-1705. Epub 2016 Nov 21.

1 Department of Pediatrics, Osaka City University Graduate School of Medicine , Osaka, Japan .

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http://dx.doi.org/10.1089/thy.2016.0005DOI Listing
December 2016

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

J Clin Endocrinol Metab 2016 07 2;101(7):2623-7. Epub 2016 Jun 2.

Departments of Molecular Endocrinology (A.N., K.M., S.S., M.K., M.F.) and Systems BioMedicine (K.O.) and Institute (Y.M.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan; Division of Endocrinology and Metabolism (R.H.), National Medical Center for Children and Mothers, Tokyo 157-8535, Japan; Department of Internal Medicine (E.H., Y.N.), Japanese Red Cross Kanazawa Hospital, Kanazawa 921-8162, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development (K.N.), Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan; Department of Reproductive Biology (A.U.), Center for Regenerative Medicine, National Institute for Child Health and Development, Tokyo 157-8535, Japan; Department of Pediatrics (T.T.), Jichi Children's Medical Center Tochigi, Shimotsuke 329-0498, Japan; and Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.

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http://dx.doi.org/10.1210/jc.2016-1725DOI Listing
July 2016

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.

Clin Pediatr Endocrinol 2016 Jul 20;25(3):111-4. Epub 2016 Jul 20.

Department of Pediatrics, The Jikei University Kashiwa Hospital, Chiba, Japan.

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http://dx.doi.org/10.1297/cpe.25.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965512PMC
July 2016

Neonatal mass screening for 21-hydroxylase deficiency.

Clin Pediatr Endocrinol 2016 Jan 30;25(1):1-8. Epub 2016 Jan 30.

Sapporo IDL, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.25.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738187PMC
January 2016

Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

Endocr J 2015 21;62(3):277-82. Epub 2015 Jan 21.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ14-0377DOI Listing
December 2015

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Am J Med Genet A 2015 Jul 21;167(7):1578-81. Epub 2015 Apr 21.

Department of Pediatrics, Hokkaido University School of Medicine, Kita-ku, Sapporo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37073DOI Listing
July 2015

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2.

Clin Pediatr Endocrinol 2015 Jul 18;24(3):135-8. Epub 2015 Jul 18.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.24.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639533PMC
July 2015

Polyarthritis caused by methimazole in two Japanese patients with graves' disease.

J Clin Res Pediatr Endocrinol 2013 ;5(4):270-2

Hokkaido University School of Medicine, Department of Pediatrics, Sapporo, Japan. E-mail:

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http://dx.doi.org/10.4274/Jcrpe.1055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890228PMC
September 2014

Neonatal screening and a new cause of congenital central hypothyroidism.

Ann Pediatr Endocrinol Metab 2014 Sep 30;19(3):117-21. Epub 2014 Sep 30.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://e-apem.org/journal/view.php?doi=10.6065/apem.2014.19.
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http://dx.doi.org/10.6065/apem.2014.19.3.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208260PMC
September 2014

Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.

Clin Pediatr Endocrinol 2008 18;17(4):95-102. Epub 2008 Nov 18.

Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan.

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http://dx.doi.org/10.1297/cpe.17.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004826PMC
June 2014

A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation.

Pediatr Res 2014 Jun 7;75(6):749-53. Epub 2014 Mar 7.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1038/pr.2014.34DOI Listing
June 2014

Identification of IgG-κ type macroprolactin found in the serum of an 8-year-old girl.

Clin Chim Acta 2014 Jun 26;433:206-8. Epub 2014 Mar 26.

Division of Laboratory and Transfusion Medicine, Hokkaido University Hospital, Sapporo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.03.019DOI Listing
June 2014

A novel v2 vasopressin receptor mutation with x-linked nephrogenic diabetes insipidus.

Clin Pediatr Endocrinol 2006 22;15(1):41-3. Epub 2006 Feb 22.

Department of Pediatrics, Hokkaido University, School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.15.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004903PMC
May 2014

Two children with xanthogranuloma of the sellar region.

Clin Pediatr Endocrinol 2006 2;15(3):85-91. Epub 2006 Aug 2.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.15.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004838PMC
May 2014

Two Japanese patients with gitelman syndrome.

Clin Pediatr Endocrinol 2006 3;15(4):137-42. Epub 2006 Nov 3.

Department of Pediatrics, Konan Hospital, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.15.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004865PMC
May 2014

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia.

Clin Pediatr Endocrinol 2008 14;17(1):23-5. Epub 2008 Feb 14.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.17.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004877PMC
May 2014

Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo.

Clin Pediatr Endocrinol 2014 Apr 20;23(2):35-43. Epub 2014 Apr 20.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.23.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004996PMC
April 2014

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

J Med Case Rep 2013 Dec 30;7:283. Epub 2013 Dec 30.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa 2-138-4 Minami-ku, Yokohama 232-8555, Japan.

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http://dx.doi.org/10.1186/1752-1947-7-283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880170PMC
December 2013

Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

J Clin Endocrinol Metab 2013 Oct 21;98(10):E1692-701. Epub 2013 Aug 21.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan.

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http://dx.doi.org/10.1210/jc.2013-1974DOI Listing
October 2013

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.

J Clin Endocrinol Metab 2013 Oct 21;98(10):E1682-91. Epub 2013 Aug 21.

MD, Department of Pediatrics, Hokkaido University School of Medicine, North 15 West 7, Kitaku, Sapporo, Japan 060-8635.

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http://dx.doi.org/10.1210/jc.2013-1224DOI Listing
October 2013

A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome.

Clin Pediatr Endocrinol 2013 Oct 26;22(4):83-6. Epub 2013 Oct 26.

Department of Pediatrics, Tenshi Hospital, Social Medical Corporation Bokoi, Sapporo, Japan.

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http://dx.doi.org/10.1292/cpe.22.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809735PMC
October 2013

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

Endocr J 2013 30;60(2):245-9. Epub 2013 Jan 30.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan.

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http://dx.doi.org/10.1507/endocrj.ej13-0009DOI Listing
August 2013

Nephrocalcinosis and placental findings in neonatal bartter syndrome.

AJP Rep 2013 May 3;3(1):21-4. Epub 2012 Dec 3.

Department of Neonatology, National Hospital Organization, Okayama Medical Center, Okayama, Japan.

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http://dx.doi.org/10.1055/s-0032-1329682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699155PMC
May 2013

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.

Clin Pediatr Endocrinol 2013 Apr 26;22(2):15-23. Epub 2013 Apr 26.

Department of Pediatrics, Hokkaido University School of Medicine, Hokkaido, Japan.

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http://dx.doi.org/10.1292/cpe.22.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756183PMC
April 2013

Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome).

Clin Pediatr Endocrinol 2013 Apr 26;22(2):33-8. Epub 2013 Apr 26.

Department of Pediatrics, Hokkaido University School of Medicine, Hokkaido, Japan ; Department of Pediatrics, Sapporo City Hospital, Hokkaido, Japan.

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http://dx.doi.org/10.1292/cpe.22.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756185PMC
April 2013

Neonatal screening for congenital adrenal hyperplasia in Japan.

Pediatr Endocrinol Rev 2012 Oct;10 Suppl 1:72-8

Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Kita-Ku, Sapporo 060-8638, Japan.

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October 2012

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5).

Clin Pediatr Endocrinol 2012 Jul 25;21(3):53-5. Epub 2012 Jul 25.

Department of Pediatrics, Sapporo City Hospital, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.21.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687648PMC
July 2012

Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3).

J Clin Res Pediatr Endocrinol 2012 Jun;4(2):104-6

Hokkaido University School of Medicine, Department of Pediatrics, Sapporo, Japan.

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http://cms.galenos.com.tr/Uploads/Article_170/104-106.pdf
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http://dx.doi.org/10.4274/jcrpe.584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386769PMC
June 2012

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

Eur J Pediatr 2012 Feb 20;171(2):401-4. Epub 2011 Sep 20.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, N15, W7, Sapporo 060-8638, Japan.

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http://dx.doi.org/10.1007/s00431-011-1578-3DOI Listing
February 2012

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Pediatr Diabetes 2012 Feb 8;13(1):26-32. Epub 2011 Nov 8.

Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-Hondori, Miyakojima, Osaka 534-0021, Japan.

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http://dx.doi.org/10.1111/j.1399-5448.2011.00827.xDOI Listing
February 2012

Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.

J Thyroid Res 2010 9;2010:619013. Epub 2009 Dec 9.

Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo, Hokkaido 060-8638, Japan.

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http://dx.doi.org/10.4061/2010/619013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956980PMC
July 2011

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Endocr J 2011 10;58(2):123-30. Epub 2010 Dec 10.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.k10e-246DOI Listing
July 2011

Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia.

Endocr J 2010 6;57(9):787-92. Epub 2010 Aug 6.

Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.k10e-178DOI Listing
February 2011

A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.

Tohoku J Exp Med 2011 02;223(2):113-8

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1620/tjem.223.113DOI Listing
February 2011

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia.

Clin Pediatr Endocrinol 2011 Jan 26;20(1):21-3. Epub 2011 Mar 26.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1297/cpe.20.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687632PMC
January 2011

Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.

Clin Exp Nephrol 2010 Jun 8;14(3):228-32. Epub 2010 Apr 8.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Minami-ku, Yokohama, 232-8555, Japan.

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http://dx.doi.org/10.1007/s10157-010-0277-0DOI Listing
June 2010

A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2).

Clin Pediatr Endocrinol 2010 Apr 22;19(2):45-6. Epub 2010 May 22.

Department of Pediatrics, Hokkaido University School of Medicine, Hokkaido, Japan.

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http://dx.doi.org/10.1297/cpe.19.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687617PMC
April 2010

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Clin Endocrinol (Oxf) 2010 Feb 8;72(2):272-6. Epub 2009 Jun 8.

Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03649.xDOI Listing
February 2010

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

J Clin Endocrinol Metab 2010 Feb 4;95(2):756-64. Epub 2009 Dec 4.

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.

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http://dx.doi.org/10.1210/jc.2009-1334DOI Listing
February 2010

A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.

Endocr J 2009 24;56(4):619-24. Epub 2009 Mar 24.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.k08e-380DOI Listing
October 2009

Elevated free thyroxine levels detected by a neonatal screening system.

Pediatr Res 2009 Sep;66(3):312-6

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Hokkaido 060-8635, Japan.

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http://dx.doi.org/10.1203/PDR.0b013e3181b1bcbdDOI Listing
September 2009

Chemotherapy with cisplatin and vincristine for optic pathway/hypothalamic astrocytoma in young children.

Jpn J Clin Oncol 2009 May 17;39(5):277-83. Epub 2009 Feb 17.

Department of Neurosurgery, Hokkaido University Hospital, Sapporo, Japan.

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http://dx.doi.org/10.1093/jjco/hyp012DOI Listing
May 2009

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

J Clin Endocrinol Metab 2009 Jan 14;94(1):314-9. Epub 2008 Oct 14.

Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo, Japan 060-0835.

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http://dx.doi.org/10.1210/jc.2008-1219DOI Listing
January 2009

Role of surgery for optic pathway/hypothalamic astrocytomas in children.

Neuro Oncol 2008 Oct 8;10(5):725-33. Epub 2008 Jul 8.

Department of Neurosurgery, Hokkaido University Hospital, North-15, West-7, Kita-ku, Sapporo 060-8638, Japan.

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http://dx.doi.org/10.1215/15228517-2008-033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2666249PMC
October 2008

Case study of a 15-year-old boy with McCune-Albright syndrome combined with pituitary gigantism: effect of octreotide-long acting release (LAR) and cabergoline therapy.

Endocr J 2008 Jul 30;55(3):595-9. Epub 2008 Apr 30.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.k07e-042DOI Listing
July 2008

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome.

Endocr J 2008 Jul 3;55(3):557-60. Epub 2008 Jun 3.

Department of Endocrinology and Metabolism, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1507/endocrj.k07e-113DOI Listing
July 2008

A pseudohypoparathyroidism type Ia patient with normocalcemia.

Endocr J 2008 Mar 4;55(1):169-73. Epub 2008 Feb 4.

Department of Public Health, Kansai Medical University, Moriguchi, Japan.

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http://dx.doi.org/10.1507/endocrj.k07e-019DOI Listing
March 2008

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

Endocr J 2007 Dec 12;54(6):1003-7. Epub 2007 Nov 12.

Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1507/endocrj.k06-204DOI Listing
December 2007

A Japanese patient of congenital hypothyroidism with cerebellar atrophy.

Endocr J 2007 Dec 14;54(6):941-4. Epub 2007 Nov 14.

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.k07-105DOI Listing
December 2007

A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

Endocr J 2007 Aug 25;54(4):637-41. Epub 2007 May 25.

Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060-0835, Japan.

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http://dx.doi.org/10.1507/endocrj.k06-200DOI Listing
August 2007

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

J Clin Endocrinol Metab 2006 Jul 11;91(7):2643-9. Epub 2006 Apr 11.

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.

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http://dx.doi.org/10.1210/jc.2005-2460DOI Listing
July 2006

Gitelman's syndrome with mental retardation.

Intern Med 2006 15;45(4):211-3. Epub 2006 Mar 15.

Division of Internal Medicine, Takikawa City Hospital, Takikawa, Hokkaido.

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http://dx.doi.org/10.2169/internalmedicine.45.1513DOI Listing
May 2006

Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus.

J Pediatr Endocrinol Metab 2006 Feb;19(2):143-8

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1515/jpem.2006.19.2.143DOI Listing
February 2006

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

Endocr J 2005 Oct;52(5):643-5

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1507/endocrj.52.643DOI Listing
October 2005