نتائج البحث - "Sanami Takada"

المصدر: European Journal of Medical Genetics, 64, 10
European Journal of Medical Genetics, 64(10):104293. Elsevier Masson SAS
Schoenaker, M H D, Takada, S, van Deuren, M, Dommering, C J, Henriët, S S V, Pico, I, Vogel, W V, Weemaes, C M R, Willemsen, M A A P, van der Burg, M & Kaanders, J H A M 2021, ' Considerations for radiotherapy in Bloom Syndrome : A case series ', European Journal of Medical Genetics, vol. 64, no. 10, 104293 . https://doi.org/10.1016/j.ejmg.2021.104293
European Journal of Medical Genetics, 64(10). ELSEVIER
European Journal of Medical Genetics, 64

مصطلحات موضوعية: Adult, Male, DNA repair, medicine.medical_treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Radiation Tolerance, All institutes and research themes of the Radboud University Medical Center, Genetics, medicine, Humans, Bloom syndrome, DNA Breaks, Double-Stranded, Radiosensitivity, Genetics (clinical), Immunodeficiency, Cells, Cultured, Chemotherapy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], RecQ Helicases, Radiotherapy, Toxicity, business.industry, Carcinoma, General Medicine, Fibroblasts, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Radiation therapy, Ataxia-telangiectasia, Chromosomal instability disorder, Cancer research, Female, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d21d0e876c12145d72f79b9d0feb55
https://hdl.handle.net/1887/3277465

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7

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort

المؤلفون: Mirjam van der Burg, Ivo Peters, Grazia M.S. Mancini, Corry M.R. Weemaes, Bart P.C. van de Warrenburg, Sanami Takada, Erik-Jan Kamsteeg, Sjoert A. H. Pegge, Judith van Gaalen, Marc Engelen, Mark R. Garrelfs, Michèl A.A.P. Willemsen, Alexander J. Rennings

المساهمون: Pediatrics, Neurology, Paediatric Neurology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics

المصدر: Garrelfs, M R, Takada, S, Kamsteeg, E-J, Pegge, S, Mancini, G, Engelen, M, van de Warrenburg, B, Rennings, A, van Gaalen, J, Peters, I, Weemaes, C, van der Burg, M & Willemsen, M A 2020, ' The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort ', Pediatric Neurology, vol. 113, pp. 26-32 . https://doi.org/10.1016/j.pediatrneurol.2020.07.014
Pediatric Neurology, 113, 26-32. Elsevier Inc.
Pediatric neurology, 113, 26-32. Elsevier Inc.
Pediatric Neurology, 113, 26-32
Pediatric Neurology, 113, pp. 26-32
Pediatric Neurology, 113, 26-32. ELSEVIER SCIENCE INC

مصطلحات موضوعية: Male, Microcephaly, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Disease, Bioinformatics, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, PNKP Polynucleotide kinase 3 '-phosphatase, Neoplasms, Oculomotor apraxia, Child, Immunodeficiency, Netherlands, Mutation, seizures and developmental delay, medicine.diagnostic_test, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phosphotransferases (Alcohol Group Acceptor), Phenotype, Neurology, Child, Preschool, Female, medicine.symptom, PNKP Polynucleotide kinase 3′-phosphatase, Ataxia, Adolescent, MCSZ microcephaly, seizures and developmental delay, DNA repair, MCSZ microcephaly, Context (language use), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, Developmental Neuroscience, Seizures, AOA4 ataxia with oculomotor apraxia type 4, 030225 pediatrics, medicine, Humans, Spinocerebellar Ataxias, Genetic Association Studies, Genetic testing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Immunologic Deficiency Syndromes, medicine.disease, DNA Repair Enzymes, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab671fb80b78ec0b62d25136618a4f17
https://research.vumc.nl/en/publications/cec2d4e8-ad0c-41b8-9777-c5482f062efb

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8

Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis

المؤلفون: Naotomo Kambe, Megumu K. Saito, Sanami Takada

المصدر: Giornale Italiano di Dermatologia e Venereologia. 155

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deab31f9fcf1628a1f717121ebd62a48
https://doi.org/10.23736/s0392-0488.19.06524-6

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9

Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

المساهمون: Immunology

المصدر: Journal of Experimental Medicine, 217(11). ROCKEFELLER UNIV PRESS
The Journal of experimental medicine, 217(11)
The Journal of Experimental Medicine

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, DNA End-Joining Repair, Primary Immunodeficiency Diseases, Immunology, Poly (ADP-Ribose) Polymerase-1, LIG4, Biology, Transfection, medicine.disease_cause, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, PARP1, medicine, Immunodeficiency, Animals, Humans, Immunology and Allergy, B-Lymphocytes, Mutation, PARG, DNA Breaks, Genome Stability, social sciences, DNA repair protein XRCC4, Immunoglobulin Class Switching, Isotype, humanities, Immunoglobulin Switch Region, 3. Good health, Cell biology, Repressor Proteins, Non-homologous end joining, HEK293 Cells, 030104 developmental biology, Immunoglobulin class switching, Face, human activities, Human Disease Genetics, 030217 neurology & neurosurgery, Transcription Factors