T. Tajima

发表

Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.

J. Nakae, K. Fujieda, T. Tajima, 2003, Endocrine journal.

Near-Normal Linear Growth in the Setting of Markedly Reduced Growth Hormone and IGF-1

J. Nakae, M. Murashita, N. Shinohara, 1999, Hormone Research in Paediatrics.

Clinical and Basic Aspects of Intrauterine Growth Retardation

J. Nakae, M. Murashita, N. Shinohara, 1997 .

Hyperthyroidism in Growth Hormone Deficient Children Treated with Human Growth Hormone

J. Nakae, M. Murashita, N. Shinohara, 1995 .

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion].

A. Sugawara, T. Mune, T. Yanase, 2016, Endocrine journal.

Neonatal mass screening for 21-hydroxylase deficiency

T. Tajima, M. Fukushi, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

S. Kusuda, R. Horikawa, T. Tajima, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

M. Ono, I. Yokota, Y. Hasegawa, 2015, Endocrine journal.

Prenatal Diagnosis and Treatment of Steroid 21-Hydroxylase Deficiency

K. Fujieda, T. Tajima, 2008, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia.

Y. Takeuchi, T. Fujita, S. Fukumoto, 2002, The Journal of clinical endocrinology and metabolism.

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

T. Hamajima, T. Tajima, S. Hara, 2013, Endocrine journal.

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan

Hiroyuki Tanaka, K. Takano, Toshiaki Tanaka, 2016, BMC Health Services Research.

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

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical Pediatric Endocrinology.

Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.

M. Sone, H. Sasano, T. Yanase, 2014, Endocrine journal.

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

H. Tonoki, T. Tajima, K. Okuhara, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome

K. Tachibana, Hiroyuki Tanaka, K. Fujieda, 2012, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Development of Endometrial Carcinoma in a Patient with Leprechaunism (Donohue Syndrome)

Yosuke Konno, S. Sudo, T. Tajima, 2013, Clinical Pediatric Endocrinology.

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

Yosuke Konno, S. Sudo, T. Tajima, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

T. Ogata, S. Saitoh, R. Kosaki, 2017, Genetics in Medicine.

Three Novel AVPR2 Mutations in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus

J. Nakae, K. Fujieda, K. Yuri, 1996, Pediatric Research.

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.

T. Tajima, A. Nakamura, T. Hotsubo, 2013, The Journal of clinical endocrinology and metabolism.

Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited.

S. Ida, K. Miyako, K. Kashimada, 2020, The Journal of clinical endocrinology and metabolism.

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

T. Ariga, T. Tajima, A. Nakamura, 2017, Pediatric diabetes.

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

T. Urakami, T. Yorifuji, Y. Hosokawa, 2012, Pediatric diabetes.

Genetic causes of central precocious puberty

T. Tajima, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

S. Rahman, M. Konrad, S. Waldegger, 2005, Journal of the American Society of Nephrology : JASN.

Expression of vascular endothelial growth factor and its receptors Flk-1 and Flt-1 during the regeneration of autotransplanted adrenal cortex in the adrenalectomized rat.

T. Koyanagi, N. Shinohara, K. Nonomura, 2004, The Journal of urology.

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

T. Hasegawa, T. Tajima, T. Hattori, 2013, Endocrine journal.

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

T. Ogata, Hiroyuki Tanaka, N. Azuma, 2010, The Journal of clinical endocrinology and metabolism.

Molecular Diagnosis for Steroid 21-Hydroxylase Deficiency by Polymerase Chain Reaction with Dried Blood Spots

K. Fujieda, A. Yamaguchi, T. Tajima, 1997 .

A Novel Mutation in the V2 Vasopressin Receptor Gene in Two Siblings with Nephrogenic Diabetes Insipidus

J. Nakae, M. Murashita, N. Shinohara, 1995 .

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

T. Tajima, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome

T. Tajima, E. Jimbo, T. Yamagata, 2020, Journal of Endocrinological Investigation.

Comparison of two assays for fibroblast growth factor (FGF)-23

Y. Takeuchi, T. Fujita, S. Fukumoto, 2005, Journal of Bone and Mineral Metabolism.

Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets

K. Tachibana, J. Nakae, M. Murashita, 2000, Pediatric Research.

Treatment of X-Linked Hypophosphatemia in Children

Y. Hasegawa, T. Tajima, 2022, Endocrines.

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

T. Tajima, A. Nakamura, Katsura İshidu, 2012, Journal of clinical research in pediatric endocrinology.

Increased Na reabsorption via the Na–Cl cotransporter in autosomal recessive pseudohypoaldosteronism

K. Fujieda, K. Muroya, S. Uchida, 2010, Clinical and Experimental Nephrology.

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

T. Tajima, A. Nakamura, M. Nakajima, 2018, Case reports in pediatrics.

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline

A. Sugawara, T. Mune, T. Yanase, 2016 .

Turner Syndrome with Crohn Disease

J. Nakae, K. Fujieda, T. Tajima, 2001 .

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis

T. Ogata, Hiroyuki Tanaka, Y. Matsubara, 2016, Journal of Human Genetics.

Recent advances in research on isolated congenital central hypothyroidism

T. Tajima, A. Nakamura, Makiko Oguma, 2019, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Instructions for use Title Three Novel IGSF 1 Mutations in Four Japanese Patients With X-Linked Congenital

J. Bernard, T. Tajima, T. Hotsubo, 2018 .

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

D. Bernard, T. Tajima, A. Nakamura, 2013, The Journal of clinical endocrinology and metabolism.

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

T. Tajima, A. Nakamura, K. Ishizu, 2013, Endocrine journal.

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.

K. Fujieda, T. Tajima, K. Ishizu, 2008, Endocrine journal.

Toxic Thyroid Nodule with Activating Point Mutation in Gene Encoding the α Subunit of the Stimulatory G Protein: Case Report

K. Fujieda, T. Tajima, Y. Hirose, 1995 .

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

K. Okamura, T. Ogata, Y. Matsubara, 2016, The Journal of clinical endocrinology and metabolism.

Instructions for use Title Chemotherapy with Cisplatin and Vincristine for Optic Pathway / Hypothalamic Astrocytoma in YoungChildren Author ( s )

Y. Sawamura, Tsutomu Kato, T. Tajima, 2017 .

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

Y. Sawamura, Tsutomu Kato, T. Tajima, 2009, Japanese journal of clinical oncology.

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)

S. Kusuda, R. Horikawa, T. Tajima, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

T. Ogata, T. Hasegawa, T. Nagai, 2006, The Journal of clinical endocrinology and metabolism.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

T. Ogata, K. Fujieda, G. Nishimura, 2009, The Journal of clinical endocrinology and metabolism.

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

K. Tachibana, Hiroyuki Tanaka, K. Ozono, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita

J. Nakae, K. Fujieda, T. Tajima, 2003, The Journal of Steroid Biochemistry and Molecular Biology.

46,XY Phenotypic Male with Focal Segmental Glomerulosclerosis Caused by the WT1 Splice Site Mutation

K. Fujieda, K. Nonomura, T. Tajima, 2003, Hormone Research in Paediatrics.

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

J. Nakae, K. Fujieda, T. Tajima, 2000, Journal of Human Genetics.

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

S. Takada, T. Ogata, Y. Matsubara, 2016, Human mutation.

Clinical features and molecular basis of pseudohypoaldosteronism type 1

T. Tajima, A. Nakamura, S. Morikawa, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

K. Yasuda, T. Tajima, A. Shigematsu, 2014, Clinica chimica acta; international journal of clinical chemistry.

Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.

K. Fujieda, T. Tajima, H. Mochizuki, 2008, Endocrine journal.

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Hironori Kobayashi, T. Tajima, K. Nagasaki, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

T. Tajima, A. Nakamura, K. Uetake, 2015, American journal of medical genetics. Part A.

P450 Oxidoreductase Deficiency: A New Disorder of Steroidogenesis Affecting All Microsomal P450 Enzymes

K. Fujieda, W. Miller, C. Flück, 2004, Endocrine research.

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

N. Kawamura, T. Tajima, A. Sudo, 2012, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

T. Tajima, A. Nakamura, W. Jo, 2011, The Tohoku journal of experimental medicine.

A Novel PAX 4 Mutation in a Japanese Patient with Maturity-Onset Diabetes of the

T. Tajima, A. Nakamura, M. Endo, 2011 .

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

K. Fujieda, T. Tajima, W. Jo, 2010, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ

T. Yamagata, T. Tajima, A. Nakamura, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Nonclassical 21-hydroxylase deficiency detected in newborn mass screening program for congenital adrenal hyperplasia (CAH) : report of a case

A. Komiyama, K. Fujieda, T. Tajima, 1998 .

A case pf pseudohypoparathyroidism type 1a complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy

M. Kaji, T. Tajima, K. Umeda, 2001, European Journal of Pediatrics.

Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000–2004): It’s Prevalence and Clinical Characteristics

K. Fujieda, T. Tajima, M. Fukushi, 2008, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Newborn Screening in Japan—2021

T. Tajima, 2022, International journal of neonatal screening.

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.

K. Fujieda, T. Tajima, K. Okuhara, 2007, Endocrine journal.

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

J. Nakae, K. Fujieda, T. Tajima, 2003, The Journal of clinical endocrinology and metabolism.

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

S. Sugihara, T. Kubota, Hironori Kobayashi, 2018, Hormone Research in Paediatrics.

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

T. Tajima, S. Imashuku, Jun Shinozuka, 2014, Case reports in pediatrics.

Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia

Y. Ishikawa, J. Nakae, K. Fujieda, 2001, Journal of Human Genetics.

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.

K. Fujieda, T. Tajima, Fumie Fujiwara, 2009, Endocrine journal.

Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency

J. Nakae, N. Shinohara, K. Fujieda, 1995 .

Two Children with Xanthogranuloma of the Sellar Region

Y. Sawamura, T. Tajima, K. Ishizu, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Spontaneous disappearance of a middle cranial fossa arachnoid cyst after suppurative meningitis.

K. Kurisu, K. Arita, H. Yoshioka, 1998, Surgical Neurology.

A rare association between Rathke’s cyst and hypophysitis in a patient with delayed sex development and growth failure

T. Tajima, K. Kubota, A. Nakamura, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

A pseudohypoparathyroidism type Ia patient with normocalcemia.

T. Tajima, Hiroko Suzuki, S. Kanda, 2008, Endocrine journal.

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

Y. Sawamura, K. Kamada, T. Tajima, 2008, Neuro-oncology.

A newborn with combined pituitary hormone deficiency developing shock and sludge

T. Tajima, Yasuhiro Ueda, Hayato Aoyagi, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

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

T. Tajima, T. Okamoto, T. Hirayama, 2012, European Journal of Pediatrics.

A Japanese patient of congenital hypothyroidism with cerebellar atrophy.

K. Fujieda, T. Tajima, A. Sudo, 2007, Endocrine journal.

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

T. Morio, K. Kashimada, T. Hasegawa, 2020, Clinical endocrinology.

Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo

T. Tajima, A. Nakamura, T. Hotsubo, 2014, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo City

T. Tajima, A. Nakamura, T. Hotsubo, 2013, International Journal of Pediatric Endocrinology.

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

K. Fujieda, A. Ohtake, S. Amemiya, 2009, The Journal of clinical endocrinology and metabolism.

Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis

K. Kashimada, H. Kamasaki, Y. Hara, 2021, Clinical Pediatric Endocrinology.

A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

T. Tajima, S. Morikawa, 2015 .

A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.

K. Fujieda, T. Yorifuji, T. Tajima, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

A. Miyauchi, C. Tomoda, T. Uruno, 2006, The Journal of clinical endocrinology and metabolism.

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

S. Ida, K. Kashimada, T. Tajima, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.

S. Ida, Y. Hasegawa, T. Hasegawa, 2021, Endocrine journal.

Mortality in Patients with Congenital 21-Hydroxylase Deficiency Diagnosed after the Introduction of a Newborn Screening Program in Japan

K. Tachibana, K. Fujieda, Toshiaki Tanaka, 2003 .

Second-Tier testing of neonatal screening for congenital adrenal hyperplasia using Liquid Chromatography-tandem mass spectrometry

T. Tajima, Y. Shigematsu, J. Hanai, 2013 .

Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

J. Nakae, N. Shinohara, K. Fujieda, 2002, The Journal of clinical endocrinology and metabolism.

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

K. Muroya, T. Tajima, M. Adachi, 2013, Journal of Medical Case Reports.

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

K. Fujieda, T. Tajima, K. Ishizu, 2009, Journal of thyroid research.

Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies

P. Heneberg, T. Yorifuji, Y. Lebenthal, 2015, International Archives of Allergy and Immunology.

Acute Perimyocarditis in an Adolescent Japanese Male after a Booster Dose of the BNT162b2 COVID-19 Vaccine.

D. Matsubara, T. Tajima, Yusuke Morita, 2022, The Tohoku journal of experimental medicine.

Posterior Hypothalamic Astrocytoma Mimicking Hamartoma, Causing Precocious Puberty

J. Nakae, K. Fujieda, T. Tajima, 1993 .

Final Height of Patients with Idiopathic Precocious Puberty Treated with Cyproterone Acetate

J. Nakae, N. Shinohara, K. Fujieda, 1993 .

Molecular Basis of Adrenal Insufficiency

K. Fujieda, Kenji Fujieda, T. Tajima, 2005, Pediatric Research.

Reply to Dr Mussa A et al.

T. Tajima, 2008 .

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

T. Ogata, K. Ozono, S. Okada, 2017, Clinical endocrinology.

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

S. Okada, S. Sugihara, T. Kubota, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

T. Tajima, Minako Sugiyama, A. Nakamura, 2011, Pediatric reports.

Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III

Toru Watanabe, T. Tajima, 2005, Pediatric Nephrology.

Elevated Free Thyroxine Levels Detected by a Neonatal Screening System

K. Fujieda, T. Tajima, M. Fukushi, 2009, Pediatric Research.

Experience with GH Therapy in a Patient with Osteogenesis Imperfecta

J. Nakae, M. Murashita, N. Shinohara, 1997 .

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

H. Shintaku, T. Hamazaki, T. Tajima, 2016, Thyroid : official journal of the American Thyroid Association.

Neonatal screening and a new cause of congenital central hypothyroidism

T. Tajima, A. Nakamura, S. Morikawa, 2014, Annals of pediatric endocrinology & metabolism.

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

K. Fujieda, T. Tajima, J. Tsubaki, 2005, Endocrine journal.

Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome

Makoto Nakamura, M. Kageyama, T. Tajima, 2012, American Journal of Perinatology Reports.

Classic Bartter syndrome complicated with profound growth hormone deficiency

K. Muroya, T. Tajima, M. Adachi, 2013, International Journal of Pediatric Endocrinology.

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

J. Nakae, K. Fujieda, Yuichi Kobayashi, 2002, Endocrine journal.

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

Yumi Asakura, K. Fujieda, Toshiyuki Yamamoto, 2007, Endocrine journal.

[Bartter syndrome].

T. Tajima, 2001, Ryoikibetsu shokogun shirizu.

A Boy without Growth Hormone is Growing Normally

J. Nakae, M. Murashita, N. Shinohara, 1996 .

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

T. Koike, H. Miyoshi, N. Yoshioka, 2010, Endocrine journal.

Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia

H. Tonoki, J. Nakae, N. Shinohara, 1995, Japanese Journal of Human Genetics.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3' region : Implication for the downstream enhancer

T. Ogata, T. Tajima, S. Yokoya, 2006 .

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

T. Ogata, T. Tajima, S. Yokoya, 2006, American journal of human genetics.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family

K. Fujieda, A. Bakr, A. Hammad, 2009, Clinical and Experimental Nephrology.

Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis

T. Tajima, S. Imashuku, N. Kudo, 2012, Pediatric reports.

Problems in diagnosing atypical Gitelman’s syndrome presenting with normomagnesaemia

Y. Terauchi, T. Koike, H. Miyoshi, 2010, Clinical endocrinology.

Two Japanese Patients with Gitelman Syndrome

I. Yokota, T. Tajima, K. Tao, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

Y. Terauchi, A. Nakamura, T. Tajima, 2008, Endocrine journal.

A rare case of Gitelman’s syndrome presenting with hypocalcemia and osteopenia

S. Taniguchi, T. Koike, T. Atsumi, 2005, Journal of endocrinological investigation.

Gitelman's syndrome with mental retardation.

A. Nakamura, T. Tajima, K. Takeuchi, 2006, Internal medicine.

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

T. Tajima, A. Nakamura, Takeshi Yamaguchi, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene

T. Yamagata, T. Tajima, Takeshi Yamaguchi, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

T. Tajima, Makiko Oguma, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

T. Tajima, A. Nakamura, S. Morikawa, 2014, Pediatric Research.

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC

J. Nakae, K. Fujieda, T. Tajima, 2003, Pediatric Nephrology.

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

K. Muroya, T. Tajima, M. Adachi, 2020, CEN Case Reports.

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.

K. Tachibana, K. Fujieda, S. Sugihara, 2006, Endocrine journal.

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

T. Tajima, K. Ishizu, J. Tsubaki, 2008, Clinical Pediatric Endocrinology.

A Case of Achondroplasia Associated with Cervicomedullary-Junction Compression

T. Takezaki, K. Fujieda, T. Tajima, 2003 .

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

S. Kanzaki, M. Fujimoto, T. Tajima, 2017, Endocrine journal.

A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone

T. Tajima, Hideaki Watanabe, I. Kikkawa, 2023, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

J. Baron, D. Merke, G. Cutler, 1998, The Journal of clinical endocrinology and metabolism.

Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice

S. Bornstein, Xin-ming Ma, W. Ramsey, 1999, Gene Therapy.

Impact of the omicron phase on a highly advanced medical facility in Japan

H. Osaka, T. Yamagata, T. Tajima, 2023, Frontiers in pediatrics.

Polyarthritis Caused by Methimazole in Two Japanese Patients with Graves’ Disease

M. Kato, T. Hamajima, T. Tajima, 2013, Journal of clinical research in pediatric endocrinology.

Mutations of the 21-Hydroxylase CYP 21 Gene Deficiency in in Nonclassical Steroid Japan

J. Nakae, K. Fujieda, G. Cutler, 2006 .

Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism.

J. Nakae, M. Kato, M. Murashita, 1998, The Journal of clinical endocrinology and metabolism.

Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome

K. Moriya, T. Tajima, S. Morikawa, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Instructions for use Title Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian ductsyndrome

K. Moriya, T. Tajima, K. Ishizu, 2017 .

Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.

J. Baron, D. Merke, G. Cutler, 1999, The New England journal of medicine.

Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening.

T. Tajima, A. Nakamura, Takeshi Yamaguchi, 2020, The Journal of clinical endocrinology and metabolism.

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism

K. Fujieda, H. Azuma, T. Tajima, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.

J. Nakae, T. Tajima, K. Fujieda, 2001, The Journal of clinical endocrinology and metabolism.

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.

K. Tachibana, Y. Takeshima, J. Nakae, 1997, Human molecular genetics.

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

K. Tachibana, J. Nakae, T. Tajima, 1997, The Journal of clinical investigation.

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

Y. Hasegawa, T. Tajima, K. Nagasaki, 2011, Endocrine journal.

Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis

Y. Ubara, Y. Takeuchi, T. Tajima, 2015, Clinical Case Reports.

Hypomagnesemia in a Patient with Barth Syndrome

K. Fujieda, T. Tajima, Kouji Okuhara, 2005, Journal of Pediatric Endocrinology & Metabolism (JPEM).

Effect of Human Growth Hormone (hGH) Treatment on Growth Rate and Obesity in Prader-Willi Syndrome

J. Nakae, N. Shinohara, K. Fujieda, 1994 .

The high relevance of 21DOF, (4AD + 17αOHP)/F, and 11DOF/17αOHP for newborn screening of 21 hydroxylase deficiency.

T. Morio, K. Kashimada, T. Hasegawa, 2022, The Journal of clinical endocrinology and metabolism.