Relevant bibliographies by topics / Profil mutationnel

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  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
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Academic literature on the topic 'Profil mutationnel'

Author: Grafiati
Published: 25 January 2025
Last updated: 31 July 2025

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Journal articles on the topic "Profil mutationnel"

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Rached, H. A., E. Desmedt, C. Templier, P. Lepesant, and L. Mortier. "Variabilité intra-individuelle du profil mutationnel d’un mélanome métastatique." Annales de Dermatologie et de Vénéréologie 143, no. 12 (2016): S374—S375. http://dx.doi.org/10.1016/j.annder.2016.09.599.

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Szablewski, V., F. Poizat, R. Garrel, J. Solassol, and V. Costes-Martineau. "Profil mutationnel de KRAS et KRAS dans les ITAC : une relation clinicopathologique ?" Annales de Pathologie 32, no. 5 (2012): S117—S118. http://dx.doi.org/10.1016/j.annpat.2012.09.113.

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Wylomanski, S., M. Denis, S. Theoleyre, et al. "Profil mutationnel de mélanomes de la sphère génitale féminine : résultats d’une cohorte monocentrique." Annales de Dermatologie et de Vénéréologie 144, no. 12 (2017): S312—S313. http://dx.doi.org/10.1016/j.annder.2017.09.526.

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Fallet, V., and M. Wislez. "Profil mutationnel des carcinomes sarcomatoïdes pulmonaires par une technique de génotypage à haut débit." Revue des Maladies Respiratoires 31 (January 2014): A197. http://dx.doi.org/10.1016/j.rmr.2013.10.137.

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Fallet, V., and M. Wislez. "Profil mutationnel des carcinomes sarcomatoïdes pulmonaires primitifs par une technique de génotypage à haut débit." Revue des Maladies Respiratoires 31, no. 9 (2014): 879–80. http://dx.doi.org/10.1016/j.rmr.2014.06.011.

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Boussemart, L., C. Mateus, N. Kamsu-Kom, et al. "Comparaison du profil mutationnel somatique de métastases de mélanome avant traitement et après résistance au vémurafénib." Annales de Dermatologie et de Vénéréologie 141, no. 12 (2014): S283. http://dx.doi.org/10.1016/j.annder.2014.09.132.

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Veronese, Lauren, Florence Nguyen Khac, Hedi Bensaber, et al. "Étude GFCH/FILO du profil mutationnel des leucémies lymphoïdes chroniques et autres syndromes lymphoprolifératifs B avec translocation IG::BCL3." Morphologie 107, no. 359 (2023): 100638. http://dx.doi.org/10.1016/j.morpho.2023.100638.

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Schneider, P., R. Porcher, C. Pagès, et al. "Étude de l’incidence du profil mutationnel des mélanomes sur la survie globale chez des patients avec un mélanome stade IV." Annales de Dermatologie et de Vénéréologie 139, no. 12 (2012): B115. http://dx.doi.org/10.1016/j.annder.2012.10.145.

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Passet, M., C. Lepelletier, M. D. Vignon-Pennamen, et al. "L’infiltrat neutrophilique cutané des syndromes de Sweet associés aux hémopathies myéloïdes a le même profil mutationnel que la cellule myéloïde tumorale." Annales de Dermatologie et de Vénéréologie 146, no. 12 (2019): A75. http://dx.doi.org/10.1016/j.annder.2019.09.061.

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König, Anna-Katharina, Stefan Fritz, Michael Volkmar, et al. "Mutational profile in IPMN subtypes." Pancreatology 17, no. 3 (2017): S25. http://dx.doi.org/10.1016/j.pan.2017.05.079.

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Dissertations / Theses on the topic "Profil mutationnel"

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Abbar, Baptiste. "Cancers associés au VIH : immunogénomique, immunogénicité et immunothérapie." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS441.pdf.

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Les cancers, notamment les cancers bronchiques non à petites cellules (CBNPC), sont particulièrement fréquents chez les personnes vivant avec le VIH (PVVIH). Cependant, malgré cette association, les profils moléculaires et immunologiques des CBNPC chez les PVVIH restent encore mal connus. L'avènement des immunothérapies antitumorales, en particulier des inhibiteurs de points de contrôle immunitaires (ICI), a révolutionné la prise en charge de nombreux cancers, dont certains touchent fréquemment les PVVIH. Cependant, les PVVIH ont été systématiquement exclus des essais cliniques évaluant l'util
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Saaidi, Afaf. "Multi-dimensional probing for RNA secondary structure(s) prediction." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLX067/document.

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En bioinformatique structurale, la prédiction de la (des) structure(s) secondaire(s) des acides ribonucléiques (ARNs) constitue une direction de recherche majeure pour comprendre les mécanismes cellulaires. Une approche classique pour la prédiction de la structure postule qu'à l'équilibre thermodynamique, l'ARN adopte plusieurs conformations, caractérisées par leur énergie libre, dans l’ensemble de Boltzmann. Les approches modernes privilégient donc une considération des conformations dominantes. Ces approches voient leur précision limitées par l'imprécision des modèles d'énergie et les restri
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Berquet, Laure. "Etude des profils d'expression des petits ARN nucléolaires (snoARN) dans la leucémie lymphoïde chronique." Thesis, Toulouse 3, 2015. http://www.theses.fr/2015TOU30070/document.

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Les petits ARN nucléolaires (snoARN) sont d'abondants petits ARN non codants impliqués dans la modification post-transcriptionnelle des ARN ribosomiques. Plus récemment, ils ont été associés à de nouvelles fonctions et des dérégulations dans les cancers. La leucémie lymphoïde chronique (LLC) est l'hémopathie maligne la plus courante dans les pays occidentaux. Cette pathologie, bien qu'indolente, est toujours incurable et est très hétérogène en termes d'évolution et de réponse au traitement. Il est ainsi nécessaire de découvrir de nouveaux marqueurs permettant de stratifier le risque d'évolutio
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OMARINI, Claudia. "PROFILO MUTAZIONALE DI TUMORI MAMMARI HER2 POSITIVI TRATTATI CON CHEMIOTERAPIA NEOADIUVANTE​." Doctoral thesis, Università degli studi di Modena e Reggio Emilia, 2020. http://hdl.handle.net/11380/1201013.

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Background I tumori mammari con amplificazione o overespressione del gene Human Epidermal growth factor Receptor 2 (HER2) costituiscono circa il 20% delle diagnosi di tumori mammari. Tali tumori sono caratterizzati da una biologia particolarmente aggressiva e da prognosi infausta. Nelle pazienti con tumore mammario HER2 positivo, diagnosticato in stadio precoce, la chemioterapia neoadiuvante rimane una ottima opzione di trattamento, in quanto la risposta alla terapia correla significativamente con la sopravvivenza. In particolare, l’ottenimento della risposta patologica completa (pCR) è indic
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Filho, TarcÃsio Paulo de Almeida. "Expression and mutational profile of BCR-ABL gene in patients with chronic mieloid leukemia treated with tyrosine kinase inhibitors." Universidade Federal do CearÃ, 2017. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=19145.

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Conselho Nacional de Desenvolvimento CientÃfico e TecnolÃgico<br>Most patients with chronic myeloid leukemia (CML) express the transcripts b2a2, b3a2 or both of the BCR-ABL gene. The role of these transcripts in the prognosis of patients undergoing treatment with tyrosine kinase inhibitors (ITKs) has been poorly investigated and remains unclear to date. In this study, we evaluated the prognostic value of the main transcripts in patients with CML, by evaluating the expression and mutational profile of the BCR-ABL gene in patients treated with ITKs. Sixty patients with CML were evaluated transve
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Conci, Simone. "Multigene mutational profiling of biliary tract cancer is related with pattern of recurrence in surgical resected patients." Doctoral thesis, 2019. http://hdl.handle.net/11562/995070.

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Background and Aims: Biliary tract cancer (BTC) is a heterogeneous group of malignancies with poor prognosis arising from the epithelial cells of biliary tree. Recently it has been reported that specific molecular mutations are associated with different types of biliary tree carcinomas, supporting their pathologic and molecular heterogeneity. However, the pathogenic pathways involved in carcinogenesis of BTC are still to be fully defined, and data regarding the relationship between molecular alterations and pattern or timing of recurrence is lacking. The aim of the present study was to investi
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Books on the topic "Profil mutationnel"

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Geberhiwot, Tarekegn, and Carla E. M. Hollak. Niemann-Pick Disease Type B. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0048.

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Niemann-Pick disease type B (NPDB) is caused by deficient activity of sphingomyelin phosphodiesterase leading to the accumulation of sphingomyelin and other lipids, primarily within macrophages. The disease is characterised by hepatosplenomegaly, a bleeding tendency, interstitial lung disease and an atherogenic lipid profile. The diagnosis of NPDB is usually made in childhood after organomegaly is noted, and patients often survive into adulthood. The diagnostic work up includes enzymatic determination of sphingomyelinase activity, mutational analysis and screening and/or quantification for tar
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Book chapters on the topic "Profil mutationnel"

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Lee, Christopher Seungkyu. "Mutational Profile of Ocular Lymphoma." In Ocular and Adnexal Lymphoma. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-24595-4_4.

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Li, Hua, and Jennifer R. Grandis. "Mutational Profile of HPV-Positive HNSCC." In Human Papillomavirus (HPV)-Associated Oropharyngeal Cancer. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-21100-8_8.

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Jenifer Michael Raj, Minu, Fenwick Antony Edwin Rodrigues, and Sivasamy Ramasamy. "Mutational Profile of Human Papilloma Virus (HPV) Induced and Non-HPV Induced Head and Neck Squamous Cell Carcinoma." In Squamous Cell Carcinoma [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.103737.

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Head and Neck cancer accounts for approximately 900,000 cases and over 400,000 deaths annually worldwide. The primary risk factors associated with Head and Neck cancer include usage of tobacco, alcohol consumption, Human Papillomavirus (HPV) infection and Epstein-Barr virus (EBV) infection. Few subsites of Head and Neck Squamous Cell Carcinoma (HNSCC) are associated with Human Papilloma Virus (HPV) while others remain non-associated. The anatomical, physiological, genetic, protein profile and epigenetic changes that occur in both HPV-positive and HPV-negative HNSCC has been discussed in this c
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Anto, Nikhil Ponnoor, Amitha Muraleedharan, and Rashmi Mittal. "Molecular Sub-Typing and Exploration of Key Signalling Pathways Involved in Complicating the Disease." In Therapeutic Drug Targets and Phytomedicine For Triple Negative Breast Cancer. BENTHAM SCIENCE PUBLISHERS, 2023. http://dx.doi.org/10.2174/9789815079784123010006.

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Triple-negative breast cancer is characterized by distinct molecular profiles, unique metastatic patterns, aggressive behavior, lacks the targeted therapeutic approach, and caused significant mortality worldwide. The molecular complexity of angiogenesis, autophagy, apoptosis, and metastasis process in TNBC has fostered research efforts to unleash the molecular, pathological, and genetic drivers of their lethal cascade. This complex disease entity involves PI3k/Akt/mTOR, NF-kB, ERRs, and miRNA trafficking which has further worsened the clinical outcome. Due to their heterogeneous nature, none o
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Divan, Aysha, and Janice A. Royds. "Cancer Fundamentals." In Cancer Biology and Treatment. Oxford University Press, 2020. http://dx.doi.org/10.1093/hesc/9780198813477.003.0001.

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This chapter provides an overview of the fundamentals of cancer. Normal cells evolve to become cancer cells by acquiring successive mutations in primarily two classes of genes: the proto-oncogenes and the tumour suppressor genes. Mutations that specifically drive cancer development and disease progression are called driver mutations; the rest are termed passenger mutations and their role in carcinogenesis is less clear. Large-scale cancer genome studies have provided deep insight into the mutational profile of the cancer genome, and are presently informing not only basic research but also the
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Mukherjee, Riya, Anjali Priyadarshini, Ramendra Pati Pandey, and Vethakkani Samuel Raj. "Antimicrobial Resistance in Staphylococcus aureus." In Staphylococcus aureus [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.96888.

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Staphylococcus aureus is a Gram-Positive bacteria that are responsible to cause skin infections and also shows toxic shock syndrome. Several antibiotics were given against the S. aureus infections but eventually, the prevalence of multidrug resistance of Staphylococcus aureus started emerging. Since then Methicillin-resistant Staphylococcus aureus strains (MRSA)were very common which causes nosocomial infections. Microorganisms for the need of the survival undergoes mutational changes either in their chromosomal DNA/RNA which confers the resistance. One of the famous examples is the resistance
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Conference papers on the topic "Profil mutationnel"

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Bittencourt, Yuri Cardoso Rodrigues Beckedorff, Lucas Soares Almada, Tatiana Strava Corrêa, et al. "SOMATIC MUTATIONAL LANDSCAPE CHARACTERIZATION OF METASTATIC BREAST CANCER IN BRAZIL." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2025.

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Objective: Breast cancer (BC) is the most common malignancy among Brazilian women after non-melanoma skin cancer. The mutational landscape of BC in Brazil is unknown. This study describes the mutational profile of a cohort of patients with metastatic breast cancer (MBC) who had undergone next-generation sequencing (NGS) using a comprehensive somatic tumor panel. Methods: We retrospectively reviewed medical records from MBC patients. The mutational profile, clinical, and demographic characteristics were abstracted. Furthermore, the patterns of ordering the panel and its usefulness for a clinica
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Kaur, Pali, Victoria Sachs, Amanda L. Christie, David M. Weinstock, and James G. Keck. "Abstract 700: Characterization of new AML PDX models: Engraftment kinetics and mutational profile." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-700.

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Taff, J., J. Suh, B. Singh, et al. "Abstract P3-05-03: Metaplastic breast cancers: Genomic profile, mutational burden and TILs." In Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-p3-05-03.

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Jagdhari, Yash, Ajay Kumar Verma, Surya Kant, Richa Mishra, Kanchan Srivastava, and Jyoti Bajpai. "Clinical and mutational profile of extensively drug resistant tuberculosis cases in northern India." In ERS International Congress 2021 abstracts. European Respiratory Society, 2021. http://dx.doi.org/10.1183/13993003.congress-2021.pa3334.

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Van Laere, S., P. Finetti, C. Rypens, et al. "Abstract P4-04-04: The mutational profile of inflammatory breast cancer reveals a higher mutational burden leading to MAPK activation and chromatin remodeling." In Abstracts: 2018 San Antonio Breast Cancer Symposium; December 4-8, 2018; San Antonio, Texas. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-p4-04-04.

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Dooper, Marten. "Deep learning models predict the risk of relapse and the mutational profile in GIST." In ESMO Congress 2022, edited by Stefan Rauh. Medicom Medical Publishers, 2022. http://dx.doi.org/10.55788/1a4aa886.

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Canto, Luisa Matos do, Simon J. Larsen, Bruna E. Catin Kupper, et al. "Abstract 5360: Mutational profile and genomic instability according to response to therapy in rectal carcinomas." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-5360.

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Lindsay, Colin R., Pantelis Nicola, Mariam Jamal-Hanjani, et al. "Abstract B49: “Triple wild-type” co-mutational profile in early-stage KRAS-mutant lung cancer." In Abstracts: AACR Special Conference on Targeting RAS-Driven Cancers; December 9-12, 2018; San Diego, CA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3125.ras18-b49.

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Vaide, I., V. Aabrams, C. E. Ursu, and E. Laane. "Prevention of haemostatic complications Myeloproliferative Neoplasms: retrospective mutational and haemostatic profile study in Western Estonia." In GTH Congress 2024 – 68th Annual Meeting of the Society of Thrombosis and Haemostasis Research – Building Bridges in Coagulation. Georg Thieme Verlag, 2024. http://dx.doi.org/10.1055/s-0044-1779199.

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Krumbach, Rebekka, Jagatheswari Virajah, Thomas Metcalfe, Heiner Fiebig, and Vincent Vuaroqueaux. "Abstract B178: A functional mutational profile of a compendium of 350 patient-derived tumor xenografts (PDXs)." In Abstracts: AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics--Oct 19-23, 2013; Boston, MA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1535-7163.targ-13-b178.

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Reports on the topic "Profil mutationnel"

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Splitter, Gary, and Menachem Banai. Microarray Analysis of Brucella melitensis Pathogenesis. United States Department of Agriculture, 2006. http://dx.doi.org/10.32747/2006.7709884.bard.

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Original Objectives 1. To determine the Brucella genes that lead to chronic macrophage infection. 2. To identify Brucella genes that contribute to infection. 3. To confirm the importance of Brucella genes in macrophages and placental cells by mutational analysis. Background Brucella spp. is a Gram-negative facultative intracellular bacterium that infects ruminants causing abortion or birth of severely debilitated animals. Brucellosis continues in Israel, caused by B. melitensis despite an intensive eradication campaign. Problems with the Rev1 vaccine emphasize the need for a greater understand
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