Hajdu-Cheney syndrome : Infantile onset of hydrocephalus and serpentine fibulae
スポンサーリンク
概要
- 論文の詳細を見る
- 2009-12-01
著者
-
Kohno Y
Department Of Pediatrics Graduate School Of Medicine Chiba University:environmental Health Science P
-
Kohno Yoichi
国立病院機構千葉医療センター 小児科
-
Kohno Yoichi
Department Of Pediatrics Chiba University Graduate School Of Medicine
-
MINAGAWA MASANORI
Department of Pediatrics, Chiba University Graduate School of Medicine
-
Kohno Yoichi
Department Of Pediatrics Chiba University School Of Medicine
-
Nishimura Gen
Department Of Pediatric Radiology Tokyo Metropolitan Kiyose Children's Hospital
-
Someya Tomohiro
Department Of Pediatrics Graduate School Of Medicine Chiba University
-
Nishimura Gen
Department Of Radiology Tokyo Metropolitan Kiyose Pediatric Hospital
-
Someya Tomohiro
Department Of Pediatrics Chiba University Graduate School Of Medicine
-
TAKATANI Rieko
Division of Endocrinology, Chiba Children's Hospital
-
KAZUKAWA Itsuro
Division of Endocrinology, Chiba Children's Hospital
-
Kazukawa Itsuro
Division Of Endocrinology Chiba Children's Hospital
-
Takatani Rieko
Division Of Endocrinology Chiba Children's Hospital
-
Minagawa Masanori
Department Of Pediatrics Chiba University Graduate School Of Medicine
-
Minagawa Masanori
Department Of Pediatrics Graduate School Of Medicine Chiba University
-
NISHIMURA Gen
Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center
関連論文
- Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome
- 日本人小児の Hemophilus influenzae type b 抗芙膜多糖体抗体価に関する検討
- A Japanese patient with a mild Lenz-Majewski syndrome
- Association study of the C3 gene with adult and childhood asthma
- No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
- Effects of Probiotics on the Immune System and Allergic Diseases
- 6 Single nucleotide polymorphisms of CD14 and TLR2 is associated with the development of respiratory syncytial virus-induced bronchiolitis in Japanese children(II. Asthma Genetics)
- Increased expression of α4β7 integrin on food allergen-stimulated CD4^+ T cells in active food allergic enterocolitis
- A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
- Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
- Causes and Differential Diagnosis of Hypocalcemia : Recommendation Proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan
- Mortality From Congenital Cardiovascular Malformations in Japan, 1968 Through 1997
- A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid leyels
- Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency
- Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency
- Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
- Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency
- An Ile/Val polymorphism at codon 1464 of the ATP7A gene
- Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
- Characteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism : Comparison between Type 1a and Type 1b
- Transient Central Hypothyroidisim Due to Pituitary Suppression in a Premature Neonate Born to a Mother with Three-Year-Untreated Graves' Disease
- A Girl with Prolactinoma Presenting Cessation of Pubertal Development and Growth
- The Standard Ratio of Upper Segment Length to Lower Segment Length According to Spina Malleolar Distance in Japanese Children
- A 9-Year-Old Girl Presenting Central Precocious Puberty with Polycystic Ovary Syndrome
- Genital Bleeding in a 2-Month-Old Infant with Congenital Adrenal Hyperplasia
- Estrogen Secreting Adrenal Adenocarcinoma in an 18-Month-old Boy: Aromatase Activity, Protein Expression, mRNA and Utilization of Gonadal Type Promoter
- Characterization of Genes Encoding the Pancreatic β-cell ATP-sensitive K^+ Channel in Persistent Hyperinsulinemic Hypoglycemia of Infancy in Japanese Patients
- Therapeutic Guidelines for Atopic Dermatitis 2002
- Retrocerebellar arachnoid cysts in siblings with mental retardation and undescended testis
- Empty sella syndrome in nevoid basal cell carcinoma syndrome
- γ-Irradiation Deregulates Cell Cycle Control and Apoptosis in Nevoid Basal Cell Carcinoma Syndrome-derived Cells
- A splenial lesion with transiently reduced diffusion in clinically mild encephalitis is not always reversible : A case report
- Direct demonstration of humorally mediated inhibition of the transcription of phosphate transporter in XLH patients
- A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
- Long-Term Outcome of Endocrine Function in Patients with Neurohypophysal Germinomas
- A pediatric patient with acute hepatitis E in Japan
- Brain MR findings in a patient with merosin-negative congenital muscular dystrophy
- Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
- Acute motor axonal neuropathy during intensive immunosuppressive therapy for macrophage activation syndrome
- U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
- Jansen-type Metaphyseal Chondrodysplasia : Analysis of PTH/PTH-related Protein Receptor Messenger RNA by the Reverse Transcriptase-Polymerase Chain Method
- Early Detection of Infants with Hypophosphatemic Vitamin D Resistant Rickets (HDRR)
- Serotypes of Haemophilus Influenzae Strains Isolated from Pediatric Patients with Respiratory Tract Infections
- A posterior fossa lipoma extending into the cervical spine and subcutaneous space via a cranium bifidum
- Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
- 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 case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation : A new syndrome?
- -1220-USEFULNESS OF MRI (DBI METHOD) IN ESTIMATION OF CERVICOTHORACIC OBSTRUCTIVE VASCULAR DISEASE : THE 54th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17α-Hydroxylase/17m,20-Lyase Deficiency, but without Obvious CYP17 Gene Mutations
- Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
- 小児下気道感染症由来インフルエンザ菌の抗菌薬感受性に関する検討
- Value of washed sputum gram stain smear and culture for management of lower respiratory tract infections in children
- A case of persistent Enterobacter cloacae bacteremia
- Impairment of Angiogenic Activity in the Serum From Patients With Coronary Aneurysms Due to Kawasaki Disease
- Incidence of bacterial coinfection with respiratory syncytial virus bronchopulmonary infection in pediatric inpatients
- A young infant with Goldbloom syndrome
- Increased Production of Vascular Endothelial Growth Factor-D and Lymphangiogenesis in Acute Kawasaki Disease
- Marked pleural and pericardial effusion with elevated Vascular Endothelial Growth Factor production : An uncommon complication of Kawasaki disease
- Efficacy and safety of orally administered pilocarpine hydrochloride for patients with juvenile-onset Sjogren's syndrome
- Genetically modified foods and allergy : assessment of allergenicity (EDUCATIONAL LECTURE) (Proceedings of the 30th Annual Meeting)
- 二分喉頭蓋 : 単独ではなく複合奇形の一症候として存在する奇形である
- MR Appearance at Different Ages of Osteoporotic Compression Fractures of the Vertebrae
- Hajdu-Cheney syndrome : Infantile onset of hydrocephalus and serpentine fibulae
- Sublingual Immunotherapy with House Dust-Extract for House Dust-Mite Allergic Rhinitis in Children
- Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b
- Anti-polyribosylribitol phosphate antibody in pediatric patients with Haemophilus influenzae type b invasive disease
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
- TRPV4-pathy, a novel channelopathy affecting diverse systems
- Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis
- Replication of genetic association studies in asthma and related phenotypes
- Multiple cavitations in posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome
- Japanese Guideline for Atopic Dermatitis
- Isoniazid- and Streptomycin-Resistant Miliary Tuberculosis Complicated by Intracranial Tuberculoma in a Japanese Infant
- A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation : an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
- A Case Report of Dysosteosclerosis Observed from the Prenatal Period