A Patient with Sotos Syndrome Who Reached Final Height

スポンサーリンク

概要

• 論文の詳細を見る
• 日本小児内分泌学会の論文

著者

• Nakajima Shigeo

  箕面市立病院 小児科

• Nakajima Shigeo

  Department Of Pediatrics Osaka University Graduate School Of Medicine

• OZONO Keiichi

  Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine

• Matsuda-hashii Yoshiko

  大阪大学 医学系研究科小児発達医学

• Ozono Keiichi

  Osaka University Graduate School Of Medicine

• MIYOSHI YOKO

  Department of Pediatrics, Osaka University Graduate School of Medicine

• MUSHIAKE SOTARO

  Department of Pediatrics, Osaka University Graduate School of Medicine

• Nakajima Shigeo

  Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine

• Nakajima Shigeo

  Research Laboratory The Nisshin Oillio Ltd.

• TANIIKE Masako

  Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine

• Etani Yuri

  Department of Pediatrics, Osaka University Graduate School of Medicine

• Matsuda Yoshiko

  Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine

• Shimizu Nobuhiko

  Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.

• Etani Yuri

  Department Of Pediatrics Osaka University Graduate School Of Medicine

• Taniike Masako

  Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine

• Nakajima Shigeo

  Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.

• Sako Masahiro

  Department Of Pediatrics Osaka University Graduate School Of Medicine

• Matsuda-hashii Yoshiko

  Department Of Pediatrics Osaka University Graduate School Of Medicine

• Miyoshi Yoko

  Department Of Applied Biochemistry Faculty Of Applied Biological Science Hiroshima University

• Mushiake Sotaro

  Department Of Pediatrics D-5 Developmental Medicine Osaka University Graduate School Of Medical Scie

• Sakai Norio

  Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.

• Sakai Norio

  大阪大学 医学系研究科小児科

• Ozono Keiichi

  Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine

• Taniike Masako

  Department of Child Development, United Graduate School of Child Development, Osaka University

関連論文

• The C-Terminal Region of Serotonin Transporter Is Important for Its Trafficking and Glycosylation
• Pediatric myeloid/NK cell precursor lymphoma/leukemia expressing T/NK immunophenotype markers
• Allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning for a child with recurrent anaplastic large cell lymphoma
• Analysis of the stable levels of messenger RNA derived from different polymorphic alleles in the vitamin D receptor gene
• Fragmentation of Protein Kinase N (PKN) in the Hydrocephalic Rat Brain
• Antiepileptic Effects of Single and Repeated Oral Administrations of S-312-d, a Novel Calcium Channel Antagonist, on Tonic Convulsions in Spontaneously Epileptic Rats
• Perospirone, a Novel Antipsychotic Agent, Hyperpolarizes Rat Dorsal Raphe Neurons via 5-HT_ Receptor
• IV F10 Abnormal excitability of hippocampal CA3 pyramidal neurons involving abnormal Ca2^+ activity in Noda epileptic rats
• Endocrinological Analysis of 122 Japanese Childhood Cancer Survivors in a Single Hospital
• Tacrolimus-Related Encephalopathy following Allogeneic Stem Cell Transplantation in Children
• Establishment of a Monosomy 7 Leukemia Cell Line, MONO-7, With a ras Gene Mutation
• Second Transplantation With CD34^+ Blood Cells From an HLA-Mismatched Related Donor After Engraftment Failure of Transplanted Cord Blood Cells
• Expression of Adhesion Molecules in Childhood B-Lineage-Cell Neoplasms
• Congo Red, an Amyloid-Inhibiting Compound, Alleviates Various Types of Cellular Dysfunction Triggered by Mutant Protein Kinase Cγ That Causes Spinocerebellar Ataxia Type 14 (SCA14) by Inhibiting Oligomerization and Aggregation
• Pediatric post-transplant diffuse large B cell lymphoma after cardiac transplantation
• A case of congenital bone marrow failure with radio-ulnar synostosis
• Sleep disordered breathing in childhood-onset acid maltase deficiency
• Causes and Differential Diagnosis of Hypocalcemia : Recommendation Proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan
• Hereditary hypophosphatemic rickets with hypercalciuria : a study for the phosphate transporter gene type IIc and osteoblastic function
• A Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy Successfully Managed with Subcutaneous Octreotide Injection and Nocturnal Intravenous Glucose Supply
• Biological Activities of 2α-Substituted Analogues of 1α, 25-Dihydroxyvitamin D_3 in Transcriptional Regulation and Human Promyelocytic Leukemia (HL-60) Cell Proliferation and Differentiation(Medicinal Chemistry)
• Application of Signal-Averaged Electrocardiogram to Myocardial Damage in the Late Stage of Kawasaki Disease
• Molecular Bases of Diseases Characterized by Hypophosphatemia and Phosphaturia : New Understanding
• Beneficial Effect of Oral Bisphosphonate Treatment on Bone Loss Induced by Chronic Administration of Furosemide without Alteration of Its Administration and Urinary Calcium Loss
• Lack of Puberty Despite Elevated Estradiol in a 46,XY Phenotypic Female with Frasier Syndrome
• Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
• A Spectrum of Clinical Presentations in Seven Japanese Patients with Vitamin D Deficiency
• Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
• Epilepsy in Wolf-Hirschhorn Syndrome (4p-)
• Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
• Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
• In Vitro Biological Activities of a Series of 2β-Substituted Analogues of 1α, 25-Dihydroxyvitamin D_3
• Singly Dehydroxylated A-Ring Analogues of 19-Nor-1α, 25-dihydroxyvitamin D_3 and 19-Nor-22-oxa-1α, 25-dihydroxyvitamin D_3 : Novel Vitamin D_3 Analogues with Potent Transcriptional Activity but Extremely Low Affinity for Vitamin D Receptor
• Involvement of Ca^ Channels in Abnormal Excitability of Hippocampal CA3 Pyramidal Cells in Noda Epileptic Rats
• Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia
• Combination analysis of three polymorphisms for predicting the risk for steroid-induced osteonecrosis of the femoral head
• ApoB C7623T polymorphism predicts risk for steroid-induced osteonecrosis of the femoral head after renal transplantation
• Genetic analysis of steroid-induced osteonecrosis of the femoral head
• A Case of Pediatric Virilizing Adrenocortical Tumor Resulting in Hypothalamic-pituitary Activation and Central Precocious Puberty Following Surgical Removal
• Late-onset differentiation syndrome in a child with acute promyelocytic leukemia
• Alendronate and pharmacological doses of 1α OHD_3 therapy in a patient with McCune-Albright syndrome and accompanying hypophosphatemia
• A patient with Shiga toxin-associated hemolytic uremic syndrome who developed hyperkalemia in the recovery period
• Hypophosphatemic rickets accompanying McCune-Albright syndrome : evidence that a humoral factor causes hypophosphatemia
• Blunted effect of parathyroid hormone on adenosine 3',5'-cyclic monophosphate production is derived from ATP depletion in proximal convoluted tubules of hypophosphatemic mice
• The role of IGF-I in phosphate therapy for the short stature of patients with hypophosphatemic vitamin D-resistant rickets
• The Rat Intrinsic Factor Gene: Its 5'-Upstream Region and Chief Cell-Specific Transcription
• Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens
• Effects of D-Fraction, a Polysaccharide from Grifola frondosa on Tumor Growt Involve Activation of NK Cells
• Computational Analysis of Molecular Recognition in DNA Base-Sequence and Groove by Methidium Chloride Using Molecular Mechanics Calculation
• Electrophysiological Characterization of Nicotine-Induced Excitaiton of Dopaminergic Neurons in the Rat Substantia Nigra
• Intravenous methylprednisolone pulse therapy for children with autoimmune hepatitis
• A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia
• Genetic association of a polymorphism of the cAMP-responsive element binding protein-binding protein with steroid-induced osteonecrosis after kidney transplantation
• Spatiotemporal Analysis of the Molecular Interaction between PICK1 and PKC
• A case of multiple aneurysms of the vein of Galen with heart failure due to persistent fetal circulation
• Scheie syndrome (MPS-IS) presented as bilateral trigger thumb
• Improved Method for Peroxide Determination Using Acetic Acid/Iso-octane Solvent
• Skeletal development of achondroplasia : Analysis of genotyped patients
• Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
• Long-term hospitalization during pregnancy is a risk factor for vitamin D deficiency in neonates
• Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
• A Patient with Sotos Syndrome Who Reached Final Height
• 136 Excessive Growth in a Japanese Girl with Weaver Syndrome
• Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
• Theoretical Relation between Spatial Resolution and Efficiency of Detection in Scanning Hot Electron Microscope
• Shortening of Detection Time for Observation of Hot Electron Spatial Distribution by Scanning Hot Electron Microscopy
• Cloning, Sequencing, and Expression of the Bombyx mori Receptor for Bacillus thuringiensis Insecticidal CryIA (a) Toxin
• Wnt signaling in bone metabolism
• Hepatitis C virus infection and interferon therapy in patients with Down syndrome
• Diseases Associated with Abnormal Skeletal Maturity
• G-protein Stimulatory α Subunit is Involved in Osteogenic Activity in Osteoblastic Cell Line SaOS-2 Cells
• Phenotype and genotype analysis of severe skeletal dysplasia
• A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
• A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments
• CORRELATION OF SUBCELLULAR LOCALIZATION OF DISEASE-SPECIFIC INCLUSIONS AND SPHINGOLIPID ACTIVATOR PROTEIN-1(SAP-1)IN SULFATIDE SULFATASE-DEFICIENT FIBROBLASTS
• Localization of SAP-1 in fibroblasts of metachromatic leukodystrophy
• Permanent bleaching of Euglena by chloramphenicol
• A Case of Primary Hyperparathyroidism in Childhood Found by a Chance Hematuria
• A Case of Chaotic Atrial Tachycardia and Noonan's Syndrome
• Effect of Dietary Oils on the Life Span of Senescence-Accelerated Mouse
• Hyperintensity of Posterior Pituitary on MR T1WI in a Boy with Central Diabetes Insipidus Caused by Missense Mutation of Neurophysin II Gene
• Pediatric post-transplant lymphoproliferative disorder after cardiac transplantation
• Elucidation of the Molecular Mechanism and Exploration of Novel Therapeutics for Spinocerebellar Ataxia Caused by Mutant Protein Kinase Cγ
• Congo Red, an Amyloid-Inhibiting Compound, Alleviates Various Types of Cellular Dysfunction Triggered by Mutant Protein Kinase Cγ That Causes Spinocerebellar Ataxia Type 14 (SCA14) by Inhibiting Oligomerization and Aggregation
• Adaptive Coding Rate Trellis-Coded 8PSK System (Special Section on Mutli-dimensional Mobile Information Network)
• 病原性大腸菌O157による完全型HUSで認められた神経合併症のリスク因子
• Performance Evaluation of Trellis-Coded 16 and 32-APSK Schemes (Special Section on Multi-dimensional Mobile Information Networks)
• Monte Carlo Distance Spectrum Method for Estimating BER of Turbo Codes(Coding Theory)
• Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
• Anthracyclines for acute lymphoblastic leukemia in a child with congenital long QT syndrome
• Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
• SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
• Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
• Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
• Hypophosphatasia now draws more attention of both clinicians and researchers : A Commentary on prevelance of c. 1559deIT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on he
• Clinicogenetical features of a Japanese patient with giant axonal neuropathy
• Drastic Shift From Positive to Negative Estrogen Effect on Bone Morphogenetic Protein Signaling in Pulmonary Arterial Endothelial Cells Under Hypoxia
• Major role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice
• Dissolved ion analyses of stream water from bamboo forests : Implication for enhancement of chemical weathering by bamboo
• Effect of Growth Hormone Treatment on Quality of Life in Japanese Children with Growth Hormone Deficiency: An Analysis from a Prospective Observational Study

もっと見る 閉じる

スポンサーリンク