A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2002-10-01
著者
-
NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
KUROSAWA Kenji
Division of Medical Genetics, Kanagawa Children's Medical Center
-
OKAMOTO Nobuhiko
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Ch
-
Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine
-
SHIMOKAWA Osamu
Kyushu Medical Science Nagasaki Laboratory
-
Nakajima Tohru
Division Of Pediatric Cardiology Osaka Medical Center And Research Institute For Maternal And Child
-
OKINAGA Takeshi
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
-
TORIBE Yasuhisa
Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child
-
Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
-
Nonaka Ikuya
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo
-
Kurosawa Kenji
Division Of Medical Genetics Kanagawa Children's Medical Center
-
Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
-
Toribe Yasuhisa
Division Of Pediatric Neurology Osaka Medical Center And Research Institute For Maternal And Child H
-
Okinaga Takeshi
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
Okinaga Takeshi
Department Of Pediatrics Osaka University School Of Medicine
-
Kurosawa Kenji
Division Of Medical Genetics Clinical Research Institute Kanagawa Children's Medical Center
-
Kurosawa Kenji
Division Of Genetics Clinical Research Institute Kanagawa Children's Medical Center
-
Matsumoto Naomichi
Department Of Cardiology Fukuoka University Hospital School Of Medicine
-
Nonaka Ikuya
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo
-
Toribe Yasuhisa
Division Of Pediatric Neurology Osaka Medical Center And Research Institute For Maternal And Child H
-
Okamoto N
Osaka Medical Center And Res. Inst. Maternal And Child Health Osaka Jpn
-
Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
-
Tominaga Norio
Division Of Pediatric Cardiology Osaka Medical Center And Research Institute For Maternal And Child Health
-
Okamoto Nobuhiko
Department Of Molecular Cytogenetics Medical Research Institute And School Of Biomedical Science Tokyo Medical And Dental University
-
SHIMOKAWA Osamu
Kyushu Medical Science Inc.
-
OKAMOTO Nobuhiko
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health
関連論文
- Impaired Insulin Secretion in Four Tangier Disease Patients with ABCA1 Mutations
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
- Significance of measuring serum apolipoprotein (apo) B-48 concentrations in evaluating the metabolism of chylomicrons and chylomicron remnants
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation
- FISH MAPPING OF A TRANSLOCATION BREAKPOINT AT 6q21 (OR q22) IN A PATIENT WITH HETEROTAXIA
- 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
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- PJ-158 Characteristics of the Conduction of the Left Atrium in Atrial Fibrillation Using Non-contact Mapping(PJ027,Arrhythmia, Others (Clinical/Pathophysiology) 2 (A),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circulation
- OE-270 Characteristics of Induced Atrial Tachyarrhythmias and CFAE distribution after Box Isolation(OE46,Atrial Fibrillation/Supraventricular Arrhythmia: Diagnosis 3 (A),Oral Presentation (English),The 73rd Annual Scientific Meeting of The Japanese Circul
- OE-042 Long-Term Effects of Box Isolation on Atrial Sympathovagal Balance in Atrial Fibrillation(OE07,Atrial Fibrillation/Supraventricular Arrhythmia: diagnosis 2 (A),Oral Presentation (English),The 73rd Annual Scientific Meeting of The Japanese Circulati
- PE-257 Efficacy of Complete Isolation of the Posterior Left Atrium Including all Pulmonary Veins for Atrial Fibrillation(Arrhythmia, therapy(08)(A),Poster Session(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- OJ-059 Efficacy of Additional Amiodarone Therapy in Patients with an Implantable Cardioverter-Defibrillator(Arrhythmia, therapy(06)(A),Oral Presentation(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- OE-033 Impact of Complete Isolation of the Posterior Left Atrium Including Pulmonary Veins on Atrial Vagal Denervation in Paroxysmal Atrial Fibrillation(Arrhythmia, diagnosis/Pathophysiology/EPS(01)(A),Oral Presentation(English),The 72nd Annual Scientific
- DPJ-002 Implication of Infeo-Lateral Early Repolarization in Brugada Syndrome(DPJ01,Arrhythmia, Others (Clinical/Diagnosis/Treatment) 1 (A),Digital Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circulation Society)
- ASSIGNMENT OF THE HUMAN CONNEXIN43 GENE, GJA1, TO CHROMOSOME 6q22.3
- Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
- Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
- Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
- Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
- 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)
- Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
- Novel Electrophysiologic Parameter of Dispersion of Atrial Repolarization : Comparison of Different Atrial Pacing Methods
- OE-011 Is Inducibility of Atrial Fibrillation After Box Isolation a Relevant Prognostic Factor?(Arrhythmia, therapy(01)(A),Oral Presentation(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- OE-010 Efficacy of Non-contact Mapping Guided Box Isolation for Atrial Fibrillation(Arrhythmia, therapy(01)(A),Oral Presentation(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- FRS-082 Hybrid Therapy of Box Isolation and Bepridil for Chronic Atrial Fibrillation(Novel Strategies for Arrhythmia(2)(A),Featured Research Session,The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- Efficacy and Safety of Catheter Ablation for Persistent or Permanent Atrial Fibrillation
- PJ-195 A Dopamine Re-uptake Inhibitor Terminates Atrial Fibrillation and Flutter in the Canine Sterile Pericarditis Model(Arrhythmia, diagnosis/pathophysiology/EPS-11, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-063 A New Approach for Complete Isolation of the Posterior Left Atrium including Pulmonary Veins (Box Isolation) for Atrial Fibrillation(Arrhythmia, therapy-16, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-187 A Comparison of Two Ablation Strategies of Complete Isolation of the Posterior Left Atrium Including Pulmonary Veins (Box Isolation)(Arrhythmia, therapy-10, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-119 Efficacy of Complete Isolation of the Posterior Left Atrium including Pulmonary Veins (Box Isolation) on Chronic Atrial Fibrillation(Arrhythmia, therapy-09, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- OJ-036 Effect of Complete Isolation of the Posterior Left Atrium Including Pulmonary Veins (Box Isolation) on Atrial Fibrillation Termination and Inducibility(Arrhythmia, therapy-05, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- OE-221 Necessity of Electrogram-guided Atrial Ablation in Paroxysmal Atrial Fibrillation(Arrhythmia, therapy-03, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- FRS-019 Characteristics of Atrial Flutter After Complete Isolation of the Posterior Left Atrium including Pulmonary Veins (Box Isolation)(Arrhythmia (clinical) ; Ablation of Atrial Fibrillation, The 71st Annual Scientific Meeting of the Japanese Circulati
- PJ-609 Regional Difference of Electrophysiologic Properties of Pulmonary Vein(Arrhythmia, diagnosis/pathophysiology/EPS-13 (A) PJ102,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-458 New Insights into the Atrial Flutter Reentry Circuit(Arrhythmia, diagnosis/pathophysiology/EPS-12 (A) PJ77,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
- Plasma Free and Sulfoconjugated Dopamine before and after a Half-Marathon
- C-Reactive Protein-Mediated Low-Density Lipoprotein Uptake by Human Monocyte-Derived Macrophages : Implications in Atherogenesis
- Serum Matrix Metalloproteinases (MMPs) Levels Are Diagnostic Markers of Active Phase in Patients with Takayasu Arteritis
- Minocycline Has a Steroid-Sparing Effect in Treatment of Takayasu Arteritis
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Evaluation of Acute Pulmonary Vein Stenosis after Pulmonary Vein Isolation of Atrial Fibrillation
- New Approach of a Basket Catheter-Guided Pulmonary Vein Isolation for Atrial Fibrillation
- Efficacy of Pulmonary Vein Isolation for Atrial Fibrillation : Only Arrhythmogenic Pulmonary Veins vs. 3 to 4 Pulmonary Veins
- Characterization of left atrial tachycardia using electroanatomical mapping
- Distribution and number of electrical breakthrough points from the atrium to pulmonary vein in atrial fibrillation
- Characterization of Pulmonary Venous Ectopic Automaticity after Pulmonary Vein Disconnection
- Evaluation of the recurrence of atrial fibrillation after pulmonary venous ablation
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
- Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study
- Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
- Morphological differences in cardiovascular anomalies induced by bis-diamine between Sprague-Dawley and Wistar rats
- A case of Walker-Warburg syndrome
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
- A Plasma Protein Abundantly Expressed in Visceral Fat, Visfatin Modulates Inflammatory Response in Human Monocyte-derived Macrophages
- PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION
- A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
- Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
- Chromosome 1q deletion and congenital glaucoma
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- Teratogenic effect of bis-diamine on embryonic rat heart
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
- Early onset distal muscular dystrophy with normal dysferlin expression
- A case of congenital neuromuscular disease with uniform type 1 fibers
- A NOVEL MUTATION IN L1CAM GENE IN A JAPANESE PATIENT WITH X-LINKED HYDROCEPHALUS
- Familial reducing body myopathy
- L1CAM mutation in a Japanese family with x-linked hydrocephalus: a study for genetic counseling
- Brain MRI findings of older patients with Pallister-Killian syndrome
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- OJ-347 Noninducibility of Atrial Fibrillation as an End Point of Pulmonary Vein Antrum Isolation for Paroxysmal Atrial Fibrillation(Arrhythmia, therapy-5 (A) OJ58,Oral Presentation (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese
- Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
- A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
- Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome : Report of two cases and review of the literature
- Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- Severe infantile myotubular myopathy with complete atrioventricular block
- A follow-up study of congenital non-progressive myopathies
- Delayed gyration with pontocerebellar hypoplasia type 1
- Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
- A case of Baraitser-Winter syndrome with unusual brain MRI findings : Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
- Tourette's syndrome in Taiwan : an epidemiological study of tic disorders in an elementary school at Taipei County
- Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation
- Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- Efficacy of Additional Amiodarone Therapy in Patients with an Implantable Cardioverter-Defibrillator
- Does Atrial-Pacing from Different Intra-Atrial Sites for Atrial Fibrillation Effect Pulmonary Venous Pressure?
- Characteristics of the conduction of the left atrium in atrial fibrillation using non-contact mapping
- Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)