117 Molecular analysis of PHEX and FGF23 gene in hypophosphatemic rickets
スポンサーリンク
概要
著者
-
Tajima T
Department Of Pediatrics Hokkaido University School Of Medicine
-
Fujieda K
Department of Pediatrics, Asahikawa Medical College
-
Sato K
Department Of Animal Science Faculty Of Agriculture Tohoku University
-
Tajima T
Department Of Biological Science Faculty Of Science Kumamoto University
-
Tsubaki J
Department Of Molecular Design And Engineering Graduate School Of Nagoya University
-
Okuhara K
Department Of Pediatrics Hokkaido University School Of Medicine
-
Machiko E
Department of Pediatrics, Hakodate Gryoukaku Hospital
-
Fujieda K
Department Of Pediatrics Asahikawa Medical College
-
Tsubaki J
Department Of Pediatrics Hokkaido University School Of Medicine
関連論文
- ターナー症候群の新しい参照成長曲線(パーセンタイル曲線)の作成
- 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
- 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
- 34 NOVEL MUTATIONS IN THE CYP11B1 GENE IN JAPANESEPATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 11β-HYDROXYIASE DEFICIENCY
- 52 STUDIES OF HEPATOCYTE NUCLER FACTER-4α HNF4-α AND HNF-1β GENES IN JUVENILE ONSET DIABETES MELLITUS WITHOUT OBESITY
- Growth Hormone (GH) Effects on Central Fat Accumulation in Adult Japanese GH Deficient Patients : 6-month Fixed-dose Effects Persist during Second 6-month Individualized-dose Phase
- Serum Concentrations of BNP and ANP in Patients with Thyrotoxicosis
- Leptin Regulation of the Thyroids : Negative Regulation on Thyroid Hormone Levels in Euthyroid Subjects and Inhibitory Effects on Iodide Uptake and Na^+/I^- Symporter mRNA Expression in Rat FRTL-5 Cells
- Pharmacokinetics and Metabolic Effects of High-Dose Growth Hormone Administration in Healthy Adult Men
- P-17. Uncoupling proteins (UCP) potentially suppress mitochondrial superoxide production in skeletal muscle of fasted chickens(Abstracts of the International Symposium on Recent Advances in Animal Science(IS-RAAS),Joint meeting of 2^ IS-AS and 3^
- Standardization of Blood Growth Hormone Levels Measured by Different Kits Using a Linear Structural Relationship
- Trends in Age and Anthropometric Data at Start of Growth Hormone Treatment for Girls with Turner Syndrome in Japan
- Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
- Prediction of Pubertal Growth at Start of Estrogen Replacement Therapy in Turner Syndrome
- Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
- Low-dose Growth Hormone Treatment (0.175mg/kg/week) for Short Stature in Patients with Turner Syndrome : Data from KIGS Japan
- Replacement of Alanine with Asparagic Acid at Position 203 in Human Steroidogenic Acute Regulatory Protein Impairs the Ability to Enhance Steroidogenesis in vitro
- 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
- A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency
- Viriizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child : Indication of Post Operative Adjuvant Chemotherapy
- Disorders of the Hypothalamic-Pituitary-Adrenal Axis Caused by Overdosed Anti-Allergic Drug : A Case Report
- Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
- Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism
- Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens
- 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
- 太陽フレアーにおける融合不安定
- Timing for Discontinuation of Treatment with a Long-Acting Gonadotropin-Releasing Hormone Analog in Girls with Central Precocious Puberty
- 210 SEVERE GROWTH DECELERATION AFTER WITHDRAWAL OF HIGH DOSE GROWTH HORMONE THERAPY IN A BOY WITH IDIOPATHIC SHORT STATURE
- Postnatal development of brainstem serotonin-containing neurons projecting to lumbar spinal cord in rats
- A Possible Procedure to Prepare Mono Fatty Acid-Enriched Plasma Membrane in Chicken Hepatocytes
- A Possible Procedure to Prepare Mono Fatty Acid-Enriched Plasma Membrane in Chicken Hepatocytes
- Preparation of Monoclonal Antibody Against Chicken Apolipoprotein B and Development of Enzyme Liked Immunosolvent Assay (ELISA) Method with the Antibody Aiming at the Optimization of Lipid Metabolism in Chickens
- 27 A RELATIONSHIP BETWEEN ADIPONECTIN AND SEX HORMONES IN OBESE CHILDREN
- Comparative study of sequential expression of the organizer-related genes in normal Cynops pyrrhogaster embryos and mesodermalized ectoderm
- Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism
- 183 Two siblings with congenital goitrous hypothyroidism who were suspected to have thyroglobulin synthesis defects
- Effect of Astaxanthin from Phaffia Rhodozyma on T cell Population and Responsiveness to Mitogen in Splenic Mononuclear Cells of Male Broiler Chicks
- Nutrition-Physiology-Gene Interactions in the Chicken
- Meat Color of Broiler Chickens as Affected by Age and Feeding of Yeast Phaffia rhodozyma Containing High Concentrations of Astaxanthin
- Availability of Cell Wall-fractured Yeast, Phaffia rhodozyma, Containing High Concentration of Astaxanthin for Egg Yolk Pigmentation
- Availability of Cell Wall-fractured Yeast, Phaffia rhodozyma, Containing High Concentration of Astaxanthin for Egg Yolk Pigmentation
- 75 INCREASE OF BMI FOLLOWING TREATMENT OF HYPERTHYROIDISM
- Study of the process for forming microscopic surface bumps with ultra-fine particles
- 39 SIBLING CASES OF HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
- 112 METABOLIC SYNDROME IN SURVIVORS OF CHILDHOOD BRAIN TUMORS WITH ENDOCRINE COMPLICATIONS
- 18 Sporadic haploinsufficiency of the HESX1 gene causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient
- 117 Molecular analysis of PHEX and FGF23 gene in hypophosphatemic rickets
- 235 A NOVEL MUTATION (P168L) AT EXON 5 OF PHEX GENE IN A CASE WITH X-LINKED HYPOPHOSPHATEMIC RECKETS
- 182 MOLECULAR ANALYSIS OF PAX8 GENE IN JAPANESE PATIENTS WITH CONGENITAL HYPOTHYROIDISM
- 65 NOVEL MISSENSE MUTATION OF THE GATA3 GENE IN A PATIENT WITH HDR SYNDROME WHO MANIFESTED PRIMARY HYPOGONADISM
- 141 A CASE OF CARNEY COMPLEX
- 161 A NOVEL MUTATION IN SOX9 GENE IN A CASE OF CAMPOMELIC DYSPLASIA
- Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
- 131 OVARIAN FUNCTION OF AN INFANT WITH CONGENITAL LIPOID ADRENAL HYPERPLASIA
- Clinical characteristics of Japanese adults with growth hormone deficiency : a HypoCCS database study
- DISSOCIATIVE IONIZATION DYNAMICS OF SIMPLE MOLECULES BY ELECTRON IMPACT
- 86 EVALUATION OF THE INJECTION OF INSULIN LISPRO JUST BEFORE EATING BETWEEN MEALS
- 104 Type 2 diabetes presenting as diabetic ketosis in adolescence during school truancy
- 199 Prevalence of the anti-GAD antibody in the autoimmune thyroid disease patients
- 170 A case of high LAK activity at the diagnose of the Addison's disease
- The Effect of Korean Ginseng and Coptidis rhizome on Plasma Acute Phase Substances and mRNA Expression of Proinflammatory Cytokines in Spleen of Growing Chicks Following Lipopolysaccharide Injection
- 53 EFFECTS OF MUTANT ALLELES OF THE FORKHEAD TRANSCRIPTION FACTOR Foxo1 ON REGULATION OF HEPATIC INSULIN ACTION AND PANCREATIC β-CELL FUNCTION
- 76 Molecular analysis of the PTPN11 gene in Japanese patients with Noonan syndrome
- Effect of dietary supplementation of astaxanthin from Phaffia rhodozyma on lipopolysaccharide-induced early inflammatory responses in male broiler chickens (Gallus gallus) fed a corn-enriched diet