يعرض 1 - 10 نتائج من 77 نتيجة بحث عن '"New mutation"', وقت الاستعلام: 1.21s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

    المؤلفون: S. Farjadian, F. Bonatti, A. Soriano, M. Reina, A. Adorni, C. Graziano, M. Moghtaderi, A. Percesepe, G. Romeo, D. Martorana

    المصدر: Reumatismo, Vol 71, Iss 2 (2019)

    مصطلحات موضوعية: Familial Mediterranean fever, MEFV gene, new mutation, autoinflammatory disorders, Pyrin protein., Medicine, Internal medicine, RC31-1245

    وصف الملف: electronic resource

    العلاقة: https://www.reumatismo.org/index.php/reuma/article/view/1141Test; https://doaj.org/toc/0048-7449Test; https://doaj.org/toc/2240-2683Test

    الوصول الحر: https://doaj.org/article/ba0cf6aea8b1407291b094e244ba9759Test

    View record in DOAJ

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  2. 2
    An Imatinib–non‐responsive patient with an ABL Leu387Trp mutation achieves cytogenetic and molecular response under bosutinib: Case report and biological characterization

    المؤلفون: Filippo Brioschi, Rocco Piazza, Luca Mologni, Elisa Bossi, Ilaria Crespiatico, Carlo Gambacorti-Passerini

    المساهمون: Crespiatico, I, Bossi, E, Brioschi, F, Piazza, R, Mologni, L, Gambacorti‐passerini, C

    المصدر: Clinical Case Reports
    Clinical Case Reports, Vol 8, Iss 1, Pp 71-74 (2020)

    مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, resistance, 03 medical and health sciences, 0302 clinical medicine, chronic myeloid leukemia, Internal medicine, Tki resistance, hemic and lymphatic diseases, medicine, genetics, neoplasms, lcsh:R5-920, ABL, Hematology, business.industry, hematology, lcsh:R, Imatinib, General Medicine, TKI, 030220 oncology & carcinogenesis, Molecular Response, New mutation, Mutation (genetic algorithm), Cancer research, genetic, business, lcsh:Medicine (General), Bosutinib, medicine.drug

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b70d9a8ef05e88499f044fe79c0014Test
    http://europepmc.org/articles/PMC6982521Test


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  3. 3
    Association of emergence of new mutations in circulating tumuor DNA during chemotherapy with clinical outcome in metastatic colorectal cancer

    المؤلفون: Mei Guan, Xue-lin Dou, Ningning Li, Xiaohua Shi, Chunmei Bai, Xin Gao, Lianpeng Chang, Yanping Zhou, Zhao Sun, Hongyan Ying, Lin Zhao, Ya-Juan Shao, Ning Jia, Jianfeng Zhou, Yuejuan Cheng

    المصدر: BMC Cancer
    BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)

    مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Colorectal cancer, medicine.medical_treatment, Kaplan-Meier Estimate, Circulating Tumor DNA, 0302 clinical medicine, FOLFOX, Antineoplastic Combined Chemotherapy Protocols, RC254-282, Metastatic colorectal cancer, New mutation, Hazard ratio, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Fluorouracil, 030220 oncology & carcinogenesis, FOLFIRI, Female, Colorectal Neoplasms, Circulating tumour DNA, medicine.drug, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Next generation sequencing, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Aged, Neoplasm Staging, Chemotherapy, business.industry, Research, Biomarker, medicine.disease, Oxaliplatin, Irinotecan, 030104 developmental biology, Mutation, Tomography, X-Ray Computed, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbf1b6459822ab0a90c3b772868f37eTest
    https://doi.org/10.1186/s12885-021-08309-2Test


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  4. 4
    P.TYR1381X: Are We Facing a New Mutation of CFTR in a Patient With Severe Cystic Fibrosis?

    المؤلفون: Francisco Barros-Angueira, Tamara Lourido-Cebreiro, María Luisa Pérez del Molino, Ana Casal-Mouriño, Ana Palacios-Bartolomé, Luis Valdés, Tara Pereiro-Brea

    المصدر: Archivos de Bronconeumología. 56:60-62

    مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Internal medicine, New mutation, medicine, MEDLINE, General Medicine, business, medicine.disease, Gastroenterology, Cystic fibrosis

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831e945a262276cbf12b26ba6f122b85Test
    https://doi.org/10.1016/j.arbres.2019.07.011Test


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  5. 5
    TKI dose reduction can effectively maintain major molecular remission in patients with chronic myeloid leukaemia

    المؤلفون: George Nesr, Letizia Foroni, Simone Claudiani, Chloe Hayden, Pierre Foskett, Kathy Dominy, Jamshid S. Khorashad, Jane F. Apperley, Andrew J. Innes, Afzal Khan, Richard Szydlo, Dragana Milojkovic

    المصدر: British journal of haematologyReferences. 193(2)

    مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Blast Crisis, medicine.medical_treatment, Dasatinib, Fusion Proteins, bcr-abl, Comorbidity, Chronic myeloid leukaemia, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Nitriles, medicine, Humans, In patient, Adverse effect, Protein Kinase Inhibitors, Aged, Retrospective Studies, Aged, 80 and over, Aniline Compounds, Drug Tapering, business.industry, Remission Induction, Hematology, Middle Aged, respiratory tract diseases, Clinical Practice, Pyrimidines, Treatment Outcome, 030220 oncology & carcinogenesis, New mutation, Mutation, Imatinib Mesylate, Quality of Life, Quinolines, Dose reduction, Female, Safety, business, 030215 immunology, Follow-Up Studies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4d5ddff497ddb437bf93ce09b5c2f8Test
    https://pubmed.ncbi.nlm.nih.gov/33368155Test


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  6. 6
    Resistencia a la insulina tipo A, nueva mutación del gen del receptor de la insulina descrita

    المؤلفون: Diego Alvarez Ballano, Pablo Trincado Aznar, María Martínez García, María Elena López Alaminos, Karol Almendra Alvarado Rosas

    المصدر: Endocrinología, Diabetes y Nutrición. 67:611-612

    مصطلحات موضوعية: medicine.medical_specialty, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, medicine.disease, Endocrinology, Text mining, Diabetes mellitus, Internal medicine, New mutation, medicine, business, Receptor, Gene

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe287b1cea4d30d61e810c2f82f8e53fTest
    https://doi.org/10.1016/j.endinu.2019.11.008Test


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  7. 7
    The South African Arrhythmogenic Right Ventricular Cardiomyopathy Registry: A brief review and a status report

    المؤلفون: Bongani M. Mayosi, Andrzej Okreglicki, Neil Hendricks

    المصدر: SA Heart Journal, Vol 5, Iss 4, Pp 148-154 (2017)

    مصطلحات موضوعية: arrhythmogenic right ventricular cardiomyopathy, south africa, medicine.medical_specialty, business.industry, Aerospace Engineering, Status report, Sudden death, Right ventricular cardiomyopathy, Internal medicine, Tissue bank, RC666-701, New mutation, Epidemiology, Cardiology, Medicine, Diseases of the circulatory (Cardiovascular) system, business, Risk assessment, Pathological

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af702888c85ef67094e7a8a404a2d5fTest
    https://www.journals.ac.za/index.php/SAHJ/article/view/2018Test


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  8. 8
    Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab

    المؤلفون: T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova

    المصدر: Pediatričeskaâ Farmakologiâ, Vol 13, Iss 4, Pp 399-403 (2016)

    مصطلحات موضوعية: Pathology, medicine.medical_specialty, tnfrsf1a, medicine.drug_class, RM1-950, medicine.disease_cause, Monoclonal antibody, Gastroenterology, canakinumab, Exon, molecular genetic diagnosis, Computer analysis, children, Internal medicine, medicine, Receptor, Adverse effect, new mutation, Mutation, business.industry, Interleukin, autoinflammatory syndromes, Canakinumab, Therapeutics. Pharmacology, traps, business, medicine.drug

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c09d1d361e1e5684f902d16ae2726bTest
    https://www.pedpharma.ru/jour/article/view/1449Test


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  9. 9
    Resistencia a hormonas tiroideas: sospecha de una nueva mutación en el gen rTHβ

    المؤلفون: Ana Peña Cabia, Enrique Prada de Medio, Sandra Serrano Martínez, Mubarack Alramadan, Ana María Cerezo Arillo, María Luisa Giménez Alarcón

    المصدر: Revista del Laboratorio Clínico. 9:173-176

    مصطلحات موضوعية: endocrine system, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Thyroid, Genetic disorder, 030209 endocrinology & metabolism, medicine.disease, Thyroid hormone receptor beta, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Free thyroxin, Internal medicine, New mutation, medicine, 030212 general & internal medicine, business, Hormone

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bee7197665e0e5e3763170b1ac6db07Test
    https://doi.org/10.1016/j.labcli.2016.06.001Test


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  10. 10
    Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation

    المؤلفون: P. Joly, Dominique Plantaz, S. Collardeau-Frachon, D. Adjaoud, N. Thomassin, C. Barro, D. Ben Fredj

    المساهمون: Laboratoire d'Hématologie, CHU Grenoble, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)

    المصدر: Arch. Pediatr.
    Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩

    مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Dehydrogenase, macromolecular substances, Gene mutation, Glucosephosphate Dehydrogenase, Pediatrics, Hemolysis, 03 medical and health sciences, g6pd mutations, 0302 clinical medicine, Cholestasis, 030225 pediatrics, Internal medicine, hemic and lymphatic diseases, G6PD deficiency, parasitic diseases, medicine, Hepatic Insufficiency, Humans, Neonatal cholestasis, Hyperbilirubinemia, Liver injury, business.industry, New mutation, Infant, Newborn, Liver insufficiency, nutritional and metabolic diseases, medicine.disease, 3. Good health, Endocrinology, Glucosephosphate Dehydrogenase Deficiency, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, business, Glucose-6-phosphate dehydrogenase deficiency

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bf9855aceec81cfce56b5a94fdcbeaTest
    https://hal.archives-ouvertes.fr/hal-02466189Test


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