New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome

スポンサーリンク

概要

• 論文の詳細を見る
• 1998-02-01

著者

• MATSUMOTO Tadashi

  Department of Hematology, Imamura Hon-in Hospital

• Kishino T

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  長崎大学 医学部小児科

• Kondoh Tatsuro

  長崎大学 看

• Kondoh Tatsuro

  長崎大学 医歯薬学研究科人類遺伝学

• Kondoh Tatsuro

  東北大学 医学部遺伝病学分野

• Matsumoto Tadashi

  Department Of Pediatrics Nagasaki University School Of Medicine

• KONDOH Tatsuro

  Department of Pediatrics, Nagasaki University of Medicine

• TSUJI YOSHIRO

  Department of Pediatrics, School of Medicine, Nagasaki University

• Ochi Makoto

  Department Of Radiology Nagasaki Kita Hospital

• Ochi Makoto

  Department Of Radiology Nagasaki University School Of Medicine

• SUKEGAWA Kazuko

  Department of Pediatrics, Gifu University School of Medicine

• Kudo Takayuki

  Department Of Otorhinolaryngology Tohoku University School Of Medicine

• Matsuzaka Tetsuo

  Division Of Pediatrics Nagasaki Prefectural Center Of Medicine And Welfare For Children

• Matsuzaka Tetsuo

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kayashima Tomohiko

  Department Of Human Genetics Nagasaki University School Of Medicine

• Sukegawa Kazuko

  Department Of Pediatrics Gifu University School Of Medicine

• Sukegawa Kazuko

  Department Of Pediatrics Gifu University Medical School

• Tsuji Yoshiro

  Department Of Pediatrics Nagasaki University School Of Medicine

• Tsuji Yoshiro

  Department Of Cell Physiology Atomic Disease Institute Nagasaki University School Of Medicine

• Tagawa Masato

  Department Of Pediatrics Nagasaki University Hospital

• Kondoh Tatsuro

  Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences

• Tsujihata Mitsuhiro

  Nagasaki Laboratory Mitsubishi Chemical Medience Corporation

• Matsumoto Tadashi

  Division Of Pediatrics Nagasaki Prefectural Center Of Medicine And Welfare For Children

• Matsumoto Tadashi

  長崎大学 看

• Matsumoto Tadashi

  School Of Allied Medical Sciences Nagasaki University

• TSUJI Yoshiro

  Department of Pediatrics, Nagasaki University School of Medicine

関連論文

• Rituximab in combination with CHOP chemotherapy for the treatment of diffuse large B cell lymphoma in Japan : a retrospective analysis of 1,057 cases from Kyushu Lymphoma Study Group
• Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
• A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
• Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
• Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
• Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
• Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
• PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
• The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
• A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
• Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
• Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
• A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
• A Japanese patient with a mild Lenz-Majewski syndrome
• Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
• The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
• Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
• Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
• A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
• Phenotype-genotype correlation in two patients with 12q proximal deletion
• Renal tubular dysgenesis complicated with severe cranium hypoplasia
• LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
• On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
• Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
• Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
• PHARMACOKINETICS AND CLINICAL EFFECTS OF CEFOZOPRAN IN PEDIATRIC PATIENTS
• Secondary resistance to imatinib mesylate in a patient with unresectable duodenal GIST without mutations in exons 9, 11, 13, or 17 of the c-kit protooncogene
• Specific detection of Epstein-Barr virus in inflammatory pseudotumor of the spleen in a patient with a high serum level of soluble IL-2 receptor
• Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
• A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
• Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
• A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
• Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
• Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
• An Application of Grobner Basis Approach to Petri Net Problems(Concurrent System Technology)
• An Application of Grobner Basis Approach to Petri Net Problems
• Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients
• Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients
• Age-Related Bone Loss : Relationship between Age and Regional Bone Mineral Density
• The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
• Osteogenic Action of Parathyroid Hormone-Related Peptide (1-141) in Rat ROS Cells
• P-13 Actin Filament Organization in Multidrug Drug Resistant Osteosarcoma Cells
• A Case of Basal Cell Adenocarcinoma of the Parotid Gland
• A Case of Leiomyosarcoma of the Sphenoid Sinus
• IS-61 Silencing of the human ovary-specific acidic protein gene suppresses steroid secretion by adrenocortical cells(Group8 Perinatology1,International Session)
• Review Article Children with Chronic Granulomatous Disease
• A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
• A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
• Autosomal dominant onychodystrophy and congenital sensorineural deafness
• A severe case of Moebius syndrome with calcification on the fourth ventricular floor
• New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
• A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
• MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
• Specific mutation in exon 11 of c-kit proto-oncogene in a malignant gastrointestinal stromal tumor of the rectum
• Heparin Reduces Serum Levels of Endothelin-1 and Hepatic Ischemia Reperfusion Injury in Rabbits
• Spontaneous rupture of a nonparasitic liver cyst complicated by intracystic hemorrhage
• The Effect of Flow on the Neutrophil-Mediated Ca_ Responses in Human Vascular Endothelial Cells Stimulated by Endotoxin
• Risk factors for hip fracture in Japanese elderly women with osteoporosis : Applicability of biochemical markers in bone turnover
• Scheie syndrome (MPS-IS) presented as bilateral trigger thumb
• Retinoblastoma Susceptibility Gene Product Retrieval in Formalin-fixed, Paraffin-embedded Tissue : A Heating Method for Enhancing Immunohistochemical Staining
• Ki-67 Antigen Retrieval in Formalin- or Ethanol-fixed, Paraffin-embedded Tissues : An Enhancement Method for Immunohistochemical Staining with Autoclave Treatment
• Prognostic impact of immunohistochemical biomarkers in diffuse large B-cell lymphoma in the rituximab era
• Occipital scalp hemangioma : Prenatal sonographic and magnetic resonance images
• 哺乳類における卵子特異的リンカーヒストン
• Epidemiological and clinical studies of West syndrome in Nagasaki
• Developmental Assessment-Based Surgical Intervention for Intractable Epilepsies in Infants and Young Children
• A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
• Quantitative EEG Analyses and Surgical Outcome After Corpus Callosotomy
• Infantile Sturge-Weber Syndrome with Hypointense White Matter on T2-weighted MR images
• Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
• The calming effect of a maternal breast milk odor on the human newborn infant
• Microscopic Observation on the Development of Bone Canaliculi in the Process of New Bone Formation after Injury
• Age-related White Matter Hyperintensities Attenuated by Compression from a Chronic Subdural Hematoma : Possible Contribution of Brain Interstitial Fluid to the Formation of Leukoaraiosis
• 長崎県妊婦におけるサイトメガロウイルス感染の血清疫学的調査
• Pancreatic Pseudoaneurysm Converted from Pseudocyst:Transcatheter Embolization and Serial CT Assessment
• Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
• Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
• A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene
• Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
• A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
• Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
• Interruption of the Aortic Arch with Distal Type of Aorticopulmonary Septal Defect:A Case Report

もっと見る 閉じる

スポンサーリンク