Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Haploinsufficiency of SHOX

スポンサーリンク

概要

• 論文の詳細を見る

著者

• RAPPOLD Gudrun

  Institute of Human Genetics, Heidelberg University.

• OGATA Tsutomu

  Department of Endocrinology and Metabolism, National Research Institute for Child Health and Develop

• MATSUO Nobutake

  Department of Pediatrics, Keio University School of Medicine

• Matsuo Nobutake

  Department Of Pediatrics Keio University School Of Medicine

• HOTSUBO Tomoyuki

  Department of Pediatrics, Tonan Hospital

• ONIGATA Kazumichi

  Department of Pediatrics, Gunma University School of Medicine

• Rappold Gudrun

  Institute Of Human Genetics Heidelberg University

• Ogata Tsutomu

  Department Of Pediatrics Keio University School Of Medicine

• Ogata Tsutomu

  Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm

• Onigata Kazumichi

  Department Of Pediatrics And Developmental Medicine Gunma University Graduate School Of Medicine

• Hotsubo Tomoyuki

  Department Of Pediatrics Sapporo Tonan Hospital

• Hotsubo Tomoyuki

  Department Of Pediatrics Ntt East Sapporo Hospital

関連論文

• Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
• SHOX : 擬常染色体領域から発見された低身長および dyschondrosteosis の原因遺伝子
• 擬常染色体領域上の成長決定遺伝子 : 候補遺伝子SHOXのクローニングと体質性低身長患者における変異解析
• SHOX : 擬常染色体領域から発見された低身長および dyschondrosteosis の原因遺伝子
• Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
• Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota)
• Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis
• Lack of Correlation between the Endocrinological Abnormalities and Obesity Index in Anorexia Nervosa in Childhood and Adolescence
• Reference Values for Urinary Steroids in Japanese Newborn Infants : Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring
• Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens
• Growth-Promoting and Psychological Effects of High-Dose Growth Hormone Treatment in Children with Intrauterine Growth Retardation
• Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation
• Association of Micropenis with Pro185Ala Polymorphism of the Gene for Aryl Hydrocarbon Receptor Repressor Involved in Dioxin Signaling
• Evalution of serodiagnosis of toxoplasmosis by using the recombinant nucleoside triphosphate hydrolase isoforms expressed in Escherichia coli
• 小児科領域における精神保健疾患 : 日本の医療における新たな課題
• Timing for Discontinuation of Treatment with a Long-Acting Gonadotropin-Releasing Hormone Analog in Girls with Central Precocious Puberty
• Prurigo Pigmentosa Disappeared Following Improvement of Diabetic Ketosis by Insulin
• A Case of XYY Syndrome with Short Stature
• Sequence Analysis of Thyroid Transcription Factor-1 Gene Reveals Absence of Mutations in Patients with Thyroid Dysgenesis but Presence of Polymorphisms in the 5' Flanking Region and Intron
• Development of Growth Hormone and Adrenocorticotropic Hormone Deficiencies in Patients with Prenatal or Perinatal-Onset Hypothalamic Hypopituitarism Having Invisible or Thin Pituitary Stalk on Magnetic Resonance Imaging
• Setting Up an Automated System for Evaluation of Bone Age
• Mental Retardation in A Girl with Turner's Syndrome with An Active Ring X Chromosome Missing XIST
• A Two-year-old Female with Methylmalonic Acidemia and Progressive Low Density Lesions in the Basal Ganglia on CT Scans
• Incidental deviation of short and long CAG repeats in the androgen receptor gene for Japanese male infertility
• Auxological and Radiological Manifestations of Patients with Hypochondroplasia Negative for N540K Mutation in Fibroblast Growth Factor Receptor 3 Gene
• Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations : A new syndrome?
• A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency
• Structure and Sequence of the Mouse V1a and V1b Vasopressin Receptor Genes
• Bilateral ovarian teratomas successfully treated by ovary-conserving technique
• Trends in the Incidence of Duodenal Ulcers Among Children in Gunma Prefecture : A Study Over the Past Two Decades (from 1980 to 1999)
• Evaluation of autonomic nervous system function with spectral analysis of heart rate variability in a case of tetanus
• Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Haploinsufficiency of SHOX
• Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature
• KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
• Fetal Gonadal Development : An Overview
• Role of Milk Whey in the Transmission of Human Cytomegalovirus Infection by Breast Milk
• Association of Common LH Variant with Hyperfunctional Promoter in a Japanese Infertile Woman
• Target Height and Target Range for Japanese Children : Revisited
• Clinical findings and P450 Oxidoreductase (POR) gene analysis in Antley-Bixler syndrome with abnormal genitalia
• Imaging of congenital lipoid adrenal hyperplasia
• Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column
• Mental Retardation in a Boy with Congenital Adrenal Hypoplasia : A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL
• CSF glutamate/GABA concentrations in pyridoxine-dependent seizures : etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control
• A Girl with Turner Syndrome and Early Puberty : A Case Report
• Lymphstasis in a Boy with Noonan Syndrome : Imprication for the Development of Skeletal Features
• 6 Type2 Diabetes Mellitus of children
• Haploinsufficiency of SHOX : Clinical Variability and Its Underlying Cause
• Genetics of Human Growth
• GATA3 abnormalities in six patients with HDR syndrome
• Rotavirus encephalitis and cerebellitis with reversible magnetic resonance signal changes
• Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation
• Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis
• Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes
• Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors
• Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure
• Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias
• Investigation of iodine deficient state and iodine supplementation in patients with severe motor and intellectual disabilities on long-term total enteral nutrition
• N-Terminal Pro-Brain Natriuretic Peptide as a Useful Diagnostic Marker of Acute Kawasaki Disease in Children
• INSULIN-SECRETING CAPACITY IN NEWBORN INFANTS
• Skeletal Deformity Associated with SHOX Deficiency
• Submicroscopic deletion involving fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
• Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome
• A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

もっと見る 閉じる

スポンサーリンク