34 NOVEL MUTATIONS IN THE CYP11B1 GENE IN JAPANESEPATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 11β-HYDROXYIASE DEFICIENCY
スポンサーリンク
概要
著者
-
Tanaka T
Department Of Applied Chemistry Faculty Of Engineering Gifu University
-
Fujita K
Department Of Material Chemistry Graduate School Of Engineering Kyoto University
-
Tanaka T
Division Of Endocrinology And Metabolism Adolescent Medicine National Center For Child Health And De
-
Tanaka T
National Center for Child Health and Development
-
KAGAMI M
National Research Institute for Child Health and Development
-
Kagami M
Department of Endocrinology and Metabolism, Research Insutitute, National Center for Child Health an
-
Katsumata N
Department of Endocrinology and Metabolism, National Research Institte for Child Health and Developm
-
Nishi Y
Department of Pediatrics, Hiroshima Red Cross Hospital
-
Mikami A
Sapporo City Institute of Public Health
-
Fujieda K
Department of Pediatrics, Asahikawa Medical College
-
Fujita K
Department Of Anatomy Saitama Medical School
-
Katsumata N
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
Tanaka T
Department Of Anatomy Osaka Dental University
-
Nishi Y
Department Of Materials Science Tokai University
-
Fujieda K
Department Of Pediatrics Asahikawa Medical College
-
Kagami M
Department Of Endocrinology And Metabolism Research Insutitute National Center For Child Health And
-
Katsumata N
Department Of Endocrinology And Metabolism National Research Institte For Child Health And Developme
関連論文
- Real-Time Two-Photon Microscopy and Its Application for In Situ Imaging
- A Japanese Patient of Congenital Hypothyroidism with Cerebellar Atrophy
- 55 GROWTH RRESPONSE TO GROWTH HORMONE
- 67 THE ROLE OF KAL1 GENE AND KAL2 GENE (FGFR1) IN KALLMANN SYNDROME : MUTATION ANALYSIS AND CLINICAL ASSESSMENT IN 35 PATIENTS WITH KALLMANN SYNDROME
- 64 ADRENO-GENITO-RENAL DISORDER WITH SEVERE GROWTH FAILURE : A NEW DISEASE
- 77 PTPN11 GENE AND NOONAN/LEOPARD SYNDROME, MUTATIONS ANALYSIS AND COMPARISIONS OF THE CLINlCAL FEATURES OF 45 JAPANESE PATIENTS
- 82 MATERNAL UNIPARENTAL ISODISOMY FOR CHROMOSOME 7 IN A CASE WITH SILVER-RUSSELL SYNDROME
- 132 A CASE OF VIRILIZING ADRENOCORTICAL TUMOR
- 152 Dose an anabolic steroid rescue final heights of gonadal suppression therapy?
- 19 GROWTH HORMONE-RELEASING HORMONE (GHRH) RECEPTOR MUTATION THAT ACTS AS A DOMINANT NEGATIVE.
- 11 CAN GH TREATMENT IMPROVE THE FINAL HEIGHT OF CHILDREN WITH NON-GHD SHORT STATURE?
- 39 TWENTY CHILDREN WITH CUSHING SYNDROME (CS) TREATED IN EIGHT MEDICAL CENTRES
- 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
- 69 SKEWED X-INACTIVATION PATTERNS IN THREE FEMALE CARRIERS WITH VASOPRESSIN TYPE 2 RECEPTOR GENE MUTATIONS
- 120 Assessment of psychosocial effect on short-stature children and their families with and without growth hormone therapy
- 125 EFFECT OF ANABOLIC STEROID HORMONE ON GROWTH PROMOTION AND GONADAL FUNCTION IN PUBERTAL BOYS
- Dielectric Properties of Lead Zirconate Titanate Thin Film Fabricated on In_2O_3:Sn Substrate by Sol-Get Method
- Hydrothermal Synthesis and Magnetic Properties of Zinc Ferrite Nanocrystals
- 12-P-08 High Magnetization and Cluster Glass Behavior of Zine Ferrite Thin Film Prepared by a Sputtering Method
- 12-O-25 Fluorescence Properties of Er^-Doped YAG Nano-Crystals Synthesized by Glycothermal Method
- First Observation of Faraday Effct of EuS Nanocrystals in Polymer Thin Films
- Triboluminescence of (Sr,Ba)Al_2O_4 Polycrystals Doped with Eu^ and Eu^
- Persistent Spectral Hole Burning of Eu_ Ions Silicate Glasses
- Ordered Structure in Alloy Grains of Iron-Nickel Produced by the Gas Evaporation Technique
- Clinical and experimental studies of epilepsy associated with focal cortical dysplasia
- Electron-Beam-Induced Selective Thermal Decomposition of Ultrathin SiO_2 Layers Used in Nanofabrication
- Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism
- 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
- 24pF-12 Sm_3C_の構造解析
- Growth of PbSe and PbTe Ultrafine Particles by Gas Evaporation Method
- A New Preparation Method of Ultrafine Particles of Metallic Sulfides
- 医療用カテーテル材料に関する研究
- High performance energy conversion of Fe-Pd thin film
- 低温浸炭用鋼の試作・開発
- 49 THE CROSS-SECTIONAL BMI GROWTH CURVES FOR JAPANESE FROM BIRTH TO 17 YEARS OF AGE : THE 2000-2001 NATIONAL SURVEY DATA : the comparison with the 1990-1994 data and the 1978-1981 data
- 48 TARGET HEIGHT AND TARGET RANGE FOR THE JAPANESE : REVISITED
- Controlled release of simvastatin acid using cyclodextrin inclusion system
- Layer-by-Layer Oxidation of Si(001) Surfaces
- 電子線強靭化処理した汎用ガラスの曲げ試験に関する研究
- 電子線照射によるサファイアレンズのぬれ性メカニズム
- アルカリ処理したLaNi_5のTOF-SIMSによる表面分析
- PZTの電子ビーム(EB)照射による疲労回復処理
- Hydrogen absorption of LaNi_5 after LiOH treatment and surface characterization by TOF-SIMS
- PZTのシート状電子線照射処理による衝突疲労の回復
- 86 THE AIRE MUTATIONS IN A JAPANESE APECED PATIENT
- Postnatal development of brainstem serotonin-containing neurons projecting to lumbar spinal cord in rats
- Step Edge Structures on Si(112) and (113) Surfaces Treated in NH_4F Solution
- IIA-10 Development of a micro-vascular injury model in a three-dimensional collagen gel culture : An experiment of vascular injury using razors or laser microdissection system(THE 46TH ANNUAL MEETING OF THE JAPAN SOCIETY OF HISTOCHEMISTRY AND CYTOCHEMISTR
- P-16-C Thalidomide induced apoptosis during angiogenesis in the collagen gel culture(THE JOINT MEETING OF THE 44TH ANNUAL MEETING OF THE JAPAN SOCIETY OF HISTOCHEMISTRY AND CYTOCHEMISTRY AND THE 35TH ANNUAL MEETING OF THE CLINICAL ELECTRON MICROSCOPY SOCI
- Strain Relaxation in MBE-Grown Si_Ge_x/Si(100) Heterostructures by Annealing
- Realization of Abrupt Interfaces in Si/Ge Superlattices by Suppressing Ge Surface Segregation with Submonolayer of Sb
- Reaction Studies between Fluorocarbon Films and Si Using Temperature-Programmed X-Ray Photoelectron and Desorption Spectroscopies
- X-Ray Photoelectron Spectroscopic Studies on Pyrolysis of Plasma-Polymerized Fluorocarbon Films on Si
- Thermal Desorption Spectroscopy and X-Ray Photoelectron Spectroscopy Study of CF_x Layer Deposited on Si and Si0_2
- Suppression of proinflammatory cytokine production in macrophages by lansoprazole
- Double-Pass Confocal Absorption Microscope with a Phase Conjugation Mirror
- Organic Devices Prepared by Evaporative Spray Deposition from Ultra-dilute Solution
- Novel Method for Polymer Thin Film Preparation : Spray Deposition of Highly Diluted Polymer Solutions : Atoms, Molecules, and Chemical Physics
- The proton pump inhibitor inhibits cell growth and induces apoptosis in human hepatoblastoma
- 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
- 72 A NONSENSE MUTATION IN EXON 3 FO THE GH1 GENE CAUSE FAMIKIAK ISOLATED GROWTH HORMONE DEFICIENCY TYPE II
- 71 A NONSENSE MUTATION IN EXON 3 OF THE GH1 GENE CAUSES FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY TYPE II
- 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
- 34 THIAMAZOL OR PROPILTHIOURACIL AND L-T4 COMBINATION THERAPY FOR INFANTS BORN TO MOTHER WITH GRAVES' DISEASE
- 143 Effects of leptin on cultured growth plate chondrocytes : fourth report
- 178 Effect of leptin on rabbit chondrocytes : third report
- 42 FOLLOW-UP STUDY OF CONGENITAL HYPOTHYROIDISM DETECED BY NEONATAL MASS-SCREENING IN HIROSHIMA PREFECTURE (1984-1996)
- 100 ANALYSIS OF CYP21 GENE IN STEROID 21-HYDROXYLASE DEFICIENCY IN HIROSHIMA PREFECTURE
- 127 GENETIC ISOLATED GROWTH HORMONE DEFICIENCY TYPE II DUE TO AN Arg^His GH-1 GENE MUTATION
- 181 INTRAUTERINE DIAGNOSIS AND TREATMENT OF FETAL GOITROUS HYPOTHYROIDISM
- 171 A CASE OF JUVENILE GRNDNULOSA CELL TUMOR FOUND IN PRECOCIOUS PUBERTY
- 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
- 17 HETEROGENEITYOF GH-1 GENE ABNORMALITIES AMONG JAPANESE IGHD TYPE II PATIENTS
- 209 A Case of 3-Year-Old Girl Diagnosed as Psychosocial Dwarfirsm with Svere Growth Disturbance
- 204 A CASE OF CHROMOSOME BREAKAGE SYNDROME WITH SEVERE GROWTH FAILURE AND SYSTEMIC BONE DISEASE