Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
スポンサーリンク
概要
- 論文の詳細を見る
- 2008-10-01
著者
-
MATSUBARA Keiko
Department of Neonatology, Tokyo Metropolitan Bokutoh Hospital
-
Matsubara Keiko
Department Of Cardiology Rakusai Newtown Hospital
-
Matsubara Keiko
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
OGATA Tsutomu
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Develop
-
FUKAMI Maki
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Develop
-
YAMAZAWA Kazuki
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Develop
-
KAGAMI Masayo
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Develop
-
Yamazawa Kazuki
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
Fukami Maki
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
Kagami Masayo
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
Kagami Masayo
Department Of Endocrinology And Metabolism National Children's Medical Reseach Center
-
Ogata Tsutomu
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
-
Ogata Tsutomu
Department Of Endocrinology And Metabolism National Research Institute For Child Health And Developm
関連論文
- Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
- Ilio-psoas abscess caused by methicillin-resistant Staphylococcus aureus (MRSA) : a rare but potentially dangerous condition in neonates
- IS-002 Methicillin resistant staphylococcus aureus (MRSA) ilio-psoas abscess in a neonate : A rare but important clinical entity
- 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
- Group A β-hemolytic streptococcal hemorrhagic colitis complicated with pharyngitis and impetigo
- 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
- OJ-089 Is Tissue Doppler-Based Strain Rate Imaging Superior to Tissue Doppler Imaging for Detecting Regional Dysfunction in Patients With Hypertrophic Cardiomyopathy?(Echo/Doppler 1 (I) : OJ11)(Oral Presentation (Japanese))
- A Case of XYY Syndrome with Short Stature
- PE-120 Reduced Systolic Strain at Left Ventricular Posterior Wall in Patients with Duchenne Muscular Dystrophy(Echo/Doppler 5 (I) : PE21)(Poster Session (English))
- PJ-681 Assessment of Left Ventricular Torsion and Diastolic Untwisting in Hypertensive Patients(Echo / Doppler(17)(I),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-476 Relations of Left Ventricular Geometric Patterns to Left Ventricular Torsion in Patients with Systemic Hypertension(Echo/Doppler-19, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-170 Usefulness of Two-Dimensional Strain to Evaluate the Extent of Left Ventricular Regional Dysfunction in Patients with Duchenne Muscular Dystrophy(Echo/Doppler-13 (I) PJ29,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of t
- Effects of the Combination of Hypertension and Diabetes Mellitus on Left Ventricular Systolic Function(Echo/Doppler 4 (I), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Mental Retardation in A Girl with Turner's Syndrome with An Active Ring X Chromosome Missing XIST
- Theory of the a-and c-Axis Resistivity and Magnetoresistance in MoCl_5 Graphite Intercalation Compounds
- 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
- PJ-024 Relations of Left Ventricular Geometric Patterns to Left Ventricular Systolic and Diastolic Function in Patients with Systemic Hypertension(Echo/Doppler-15 (I) PJ4,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japa
- 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
- Analysis of the AAAS Gene in a Japanese Patient with Triple A Syndrome
- 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
- Neonatal Intestinal Volvulus and Preduodenal Portal Vein Associated with Situs Ambiguus : Report of a Case
- Haploinsufficiency of SHOX : Clinical Variability and Its Underlying Cause
- Genetics of Human Growth
- サルモネラ菌の分岐鎖アミノ酸LIV-2輸送系の膜たんぱく成分を支配するbrnQ遺伝子のクロ-ニング及びその塩基配列〔英文〕
- 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
- A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias
- Location of livA gene participating in the high-affinity transport of branched-chain amino acids in Salmonella typhimurium lt2.
- 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