Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2007-01-01
著者
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Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Matsumoto Naomichi
Department Of Human Genetics Yokohama City University Graduate School Of Medicine
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MIZUGUCHI Takeshi
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Mizuguchi Takeshi
Department Of Human Genetics Yokohama City University Graduate School Of Medicine
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Matsumoto Naomichi
Department Of Cardiology Fukuoka University Hospital School Of Medicine
関連論文
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- 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)
- 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)
- Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
- Plasma Free and Sulfoconjugated Dopamine before and after a Half-Marathon
- 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
- 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
- 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
- A case of Baraitser-Winter syndrome with unusual brain MRI findings : Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
- 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
- Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate
- OJ-345 Relationship between Response to Pilsicainide after Pulmonary Vein Isolation and Pulmonary Vein-Left Atrial Conduction(Arrhythmia, therapy-5 (A) OJ58,Oral Presentation (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Circul
- OE-042 Significance of Linear Left Atrial Ablation in Atrial Fibrillation(Arrhythmia, therapy-1 (A) OE7,Oral Presentation (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- Predictors of Successful Pulmonary Vein Isolation for Atrial Fibrillation
- Investigation of the Conduction Recovery after the Pulmonary Vein Isolation for Atrial Fibrillation
- Advance in genetic study of Pervasive Developmental Disorder
- De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
- 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
- A Novel SACS Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
- Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia
- Effects of Cavotricuspid Isthmus Catheter Ablation on Paroxysmal Atrial Fibrillation.
- Simultaneous Catheter Mapping of the Pulmonary Veins in Focal Atrial Fibrillation. Significance of Rapid Focal Activation, Effectiveness for Catheter Ablation.:Significance of Rapid Focal Activation, Effectiveness for Catheter Ablation
- Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity
- The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia