Tajima Toshihiro | Department of Pediatrics, Hokkaido University, School of Medicine

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著作論文

A Novel Initial Codon Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene in a Japanese Patient with Gitelman's Syndrome
43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
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
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 β-subunit Gene Promoter Activi
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1
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
Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
A Case of Achondroplasia Associated with Cervicomedullary-Junction Compression
Two Novel Mutations of Thiazide-Sensitive Na-Cl Cotransporter (TSC) Gene in Two Sporadic Japanese Patients with Gitelman Syndrome
Turner Syndrome with Crohn Disease
Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia
Evaluation of Bone Mineral Density in Patients with Turner Syndrome
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal
A Japanese Case with Frasier Syndrome Caused by the Splice Junction Mutation of WT1 Gene
PREDOMINANCE OF THE MUTATION AT 1138 OF THE cDNA FOR THE FIBROBLAST GROWTH FACTOR RECEPTOR 3 IN JAPANESE PATIENTS WITH ACHONDROPLASIA
A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy
Comparison of two assays for fibroblast growth factor (FGF)-23
Two Children with Xanthogranuloma of the Sellar Region
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis : unusual clinical associations and novel claudin16 mutation in an Egyptian family
Reply to Dr Mussa A et al.
A Novel V2 Vasopressin Receptor Mutation with X-Linked Nephrogenic Diabetes Insipidus
Two Japanese Patients with Gitelman Syndrome
Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism
A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia
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
21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism

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