Physician
Pediatrics
Dr. Kosuke Izumi, MD
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Kosuke Izumi practices Pediatrics. He attended Keio Gujuku University School of Medicine. Kosuke Izumi is a published doctor and has 30 publications published. The lastest was: 'Observation of Gravitational Waves from a Binary Black Hole Merger.'
Publications
- Observation of Gravitational Waves from a Binary Black Hole Merger.
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Improved Upper Limits on the Stochastic Gravitational-Wave Background from 2009-2010 LIGO and Virgo Data.
- Constraints on Cosmic Strings from the LIGO-Virgo Gravitational-Wave Detectors.
- The Epstein-Barr virus oncoprotein latent membrane protein 1 engages the tumor necrosis factor receptor-associated proteins TRADD and receptor-interacting protein (RIP...
- Epstein-Barr virus latent-infection membrane proteins are palmitoylated and raft-associated: protein 1 binds to the cytoskeleton through TNF receptor cytoplasmic factors.
- An Epstein-Barr virus that expresses only the first 231 LMP1 amino acids efficiently initiates primary B-lymphocyte growth transformation.
- The residues between the two transformation effector sites of Epstein-Barr virus latent membrane protein 1 are not critical for B-lymphocyte growth transformation.
- 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.
- Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
- Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
- Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
- Hepatitis C virus impairs p53 via persistent overexpression of 3beta-hydroxysterol Delta24-reductase.
- Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.
- Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association.
- Case report: Adult phenotype of Mulvihill-Smith syndrome.
- Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.
- Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family.
- Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements.
- Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
- Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesis.
- Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
- Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
- Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.
- EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.
- Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
- [Russell-Silver syndrome].
- Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.
- Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.
Doctors Specialties
- Pediatrics
Accepted Insurances
Education
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Case Western Reserve University - University Hospitals -
Keio Gujuku University School of Medicine
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