Foreword
スポンサーリンク
概要
著者
関連論文
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- The Role of N-Terminal Pro-B-Type Natriuretic Peptide in the Diagnosis of Congestive Heart Failure in Children : Correlation With the Heart Failure Score and Comparison With B-Type Natriuretic Peptide
- A Male Patient with Severe Growth Retardation, Immunodeficiency and Diabetes Mellitus : A New Syndrome?
- 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
- 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
- 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
- Mutations of the CYP21 Gene in Nonclassical Steroid 21-Hydroxylase Deficiency in Japan
- Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by the Modified Polymerase Chain Reaction to Detect Splice Site Mutation in the CYP21 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
- Monozygotic Twins with Discordant Sexual Phenotypes due to Different Rations of Mosaicism of 47, X, idic(Y), idic(Y)/46, X, idic(Y)/45, X
- Pharmacokinetics and Metabolic Effects of High-Dose Growth Hormone Administration in Healthy Adult Men
- Standardization of Blood Growth Hormone Levels Measured by Different Kits Using a Linear Structural Relationship
- Final Height of Growth Hormone (GH)-Treated Short Children Registered at the Foundation for Growth Science in Japan : Comparison between the Pituitary Human GH Era and the Recombinant Human GH Era
- Registration System for Growth Hormone (GH) Treatment with Standardized Immunoreactive GH Values in Japan
- Low-dose Growth Hormone Treatment (0.175mg/kg/week) for Short Stature in Patients with Turner Syndrome : Data from KIGS Japan
- Clinical Characteristics, Etiologies and Pathophysiology of Patients with Severe Short Stature with Severe GH Deficiency : Questionnaire Study on the Data Registered with the Foundation for Growth Science, Japan
- No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment
- Studies of Very Severe Short Stature with Severe GH Deficiency : From the Data Registered with the Foundation for Growth Science
- Growth Hormone (GH) Binding Protein in Children with Intrauterine Growth Retardation Treated with High Dose GH
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis : unusual clinical associations and novel claudin16 mutation in an Egyptian family
- Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
- Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism
- Height Responses in Complete ldiopathic Growth Hormone Deficient Children Less Than Three Years of Age during Growth Hormone Therapy
- 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
- Growth-Promoting and Psychological Effects of High-Dose Growth Hormone Treatment in Children with Intrauterine Growth Retardation
- Spontaneous Growth in Hormone-Treated Short Children
- Growth Response to Growth Hormone Therapy in Patients with Different Degrees of Growth Hormone Deficiency
- Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti
- Clinical Outcome of GH Treatment in Turner Girls in Japan : Results of Multicentre Trial
- Timing for Discontinuation of Treatment with a Long-Acting Gonadotropin-Releasing Hormone Analog in Girls with Central Precocious Puberty
- 21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life
- Development of Central Precocious Puberty After Surgical Resection in a Boy with Craniopharyngioma : Case Report
- Postnatal development of brainstem serotonin-containing neurons projecting to lumbar spinal cord in rats
- Gene Amplification as a Common Cause of lnherted Thyroxine-Binding Globulin Excess: Analysis of One Familial and Two Sporadic Cases
- Effect of neonatal hypoxia on the development of intraspinal serotonergic fibers in relation to spinal motoneurons
- Actigraphic assessment of sleep disorders in children with chronic fatigue syndrome
- Endocrine Functions in Children with Suprasellar Germinoma
- Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism
- Foreword
- Computerized version of the Wisconsin card sorting test in children with high-functioning autistic disorder or attention-deficit/hyperactivity disorder
- Clinical characteristics of Japanese adults with growth hormone deficiency : a HypoCCS database study
- Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing's syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome
- Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
- Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome