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

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著作論文

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
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
Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens
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
A Case of XYY Syndrome with Short Stature
Mental Retardation in A Girl with Turner's Syndrome with An Active Ring X Chromosome Missing XIST
Incidental deviation of short and long CAG repeats in the androgen receptor gene for Japanese male infertility
Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Haploinsufficiency of SHOX
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
Fetal Gonadal Development : An Overview
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
Lymphstasis in a Boy with Noonan Syndrome : Imprication for the Development of Skeletal Features
Haploinsufficiency of SHOX : Clinical Variability and Its Underlying Cause
Genetics of Human Growth
GATA3 abnormalities in six patients with HDR syndrome
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
Skeletal Deformity Associated with SHOX Deficiency
Submicroscopic deletion involving fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

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