Статті в журналах з теми "Monogenic IBD"
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Nambu, R., N. Warner, D. J. Mulder, and A. Muise. "A26 A SYSTEMTIC REVIEW OF MONOGENIC INFLAMMATORY BOWEL DISEASE: CLINICAL PHENOTYPE AND GENOTYPE." Journal of the Canadian Association of Gastroenterology 4, Supplement_1 (March 1, 2021): 145–47. http://dx.doi.org/10.1093/jcag/gwab002.025.
Повний текст джерелаJezernik, Gregor, Dušanka Mičetić-Turk, and Uroš Potočnik. "Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD." Journal of Personalized Medicine 10, no. 4 (November 26, 2020): 243. http://dx.doi.org/10.3390/jpm10040243.
Повний текст джерелаOuahed, Jodie, Elizabeth Spencer, Daniel Kotlarz, Dror S. Shouval, Matthew Kowalik, Kaiyue Peng, Michael Field, et al. "Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies." Inflammatory Bowel Diseases 26, no. 6 (December 3, 2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.
Повний текст джерелаLega, Sara, Alessia Pin, Serena Arrigo, Cristina Cifaldi, Martina Girardelli, Anna Monica Bianco, Monica Malamisura, et al. "Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience." Inflammatory Bowel Diseases 26, no. 5 (August 3, 2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.
Повний текст джерелаLevine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng, and David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases." Pharmaceutics 15, no. 3 (March 17, 2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.
Повний текст джерелаLeung, Gabriella, and Aleixo M. Muise. "Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease." Physiology 33, no. 5 (September 1, 2018): 360–69. http://dx.doi.org/10.1152/physiol.00020.2018.
Повний текст джерелаCharbit-Henrion, Fabienne, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, et al. "Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study." Journal of Crohn's and Colitis 12, no. 9 (May 18, 2018): 1104–12. http://dx.doi.org/10.1093/ecco-jcc/jjy068.
Повний текст джерелаGramaglia, S. M. C., U. Cucinotta, V. Dipasquale, A. Serena, P. Gandullia, and C. Romano. "P300 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Therapeutic approach: Part II." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i330. http://dx.doi.org/10.1093/ecco-jcc/jjab232.427.
Повний текст джерелаCollen, Lauren, Michael Field, Alal Eran, Vanessa Mitsialis, Jared Barends, Gwen Saccocia, Mairead Bresnahan, et al. "BULK RNA-SEQUENCING OF BLOOD INFORMS MOLECULAR DIAGNOSES IN VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE." Inflammatory Bowel Diseases 29, Supplement_1 (January 26, 2023): S56. http://dx.doi.org/10.1093/ibd/izac247.108.
Повний текст джерелаGramaglia, S. M. C., U. Cucinotta, V. Dipasquale, S. Arrigo, P. Gandullia, and C. Romano. "P263 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Clinical history: Part I." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i304. http://dx.doi.org/10.1093/ecco-jcc/jjab232.390.
Повний текст джерелаSchwärzler, J. P., A. Zollner, T. Dolejsi, B. Enrich, L. Mayr, W. Sturm, I. Tancevski, J. Zschocke, T. E. Adolph, and H. Tilg. "P302 Precision medicine for a case with monogenic inflammatory bowel disease." Journal of Crohn's and Colitis 17, Supplement_1 (January 30, 2023): i446—i448. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0432.
Повний текст джерелаMagg, Thomas, Anna Shcherbina, Duran Arslan, Mukesh M. Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, et al. "CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases 25, no. 11 (May 22, 2019): 1788–95. http://dx.doi.org/10.1093/ibd/izz103.
Повний текст джерелаShumilov, P. V., and A. E. Shchigoleva. "Features of very early-onset inflammatory bowel disease: the experience of the Federal Pediatric Center." Voprosy detskoj dietologii 19, no. 3 (2021): 5–13. http://dx.doi.org/10.20953/1727-5784-2021-3-5-13.
Повний текст джерелаAlghoul, Zahra, Chunhua Yang, and Didier Merlin. "The Current Status of Molecular Biomarkers for Inflammatory Bowel Disease." Biomedicines 10, no. 7 (June 24, 2022): 1492. http://dx.doi.org/10.3390/biomedicines10071492.
Повний текст джерелаCrowley, E., N. Warner, K. Fiedler, R. Murchie, P. Church, T. D. Walters, A. Griffiths, and A. Muise. "A13 WHOLE EXOME SEQUENCING OF OVER 1000 PEDIATRIC IBD PATIENTS FROM A SINGLE CENTRE IDENTIFIES MONOGENIC FORMS OF IBD." Journal of the Canadian Association of Gastroenterology 1, suppl_2 (February 2018): 21. http://dx.doi.org/10.1093/jcag/gwy009.013.
Повний текст джерелаMateos, B., A. Gaite, I. Rodríguez-Lago, and U. M. Marigorta. "DOP79 Alternative polygenic forms of Inflammatory Bowel Disease are not captured by current generations of polygenic risk scores." Journal of Crohn's and Colitis 17, Supplement_1 (January 30, 2023): i155—i157. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0119.
Повний текст джерелаBolton, Chrissy, Nicola Burch, James Morgan, Beth Harrison, Sumeet Pandey, Alistair T. Pagnamenta, Carolina Arancibia, et al. "Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation." Journal of Crohn's and Colitis 14, no. 1 (June 3, 2019): 142–47. http://dx.doi.org/10.1093/ecco-jcc/jjz112.
Повний текст джерелаEnsari, Arzu, Judith Kelsen, and Pierre Russo. "Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD." Virchows Archiv 472, no. 1 (July 17, 2017): 111–23. http://dx.doi.org/10.1007/s00428-017-2197-9.
Повний текст джерелаAlahmari, A. A., A. M. Al-Bahlani, B. Frenette, A. Xuan-Lan Nguyen, N. Ahmed, and A. Sant’Anna. "A251 VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE IN CHILDREN: A SINGLE CENTER EXPERIENCE OVER 15 YEARS." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 128–29. http://dx.doi.org/10.1093/jcag/gwz047.250.
Повний текст джерелаAhamed, Nazmul, Mukesh Khadga, Wahiduzzaman Majumder, and Md Rukunuzzaman. "An Eleven Months Old Infant with Very Early Onset Inflammatory Bowel Diseases (IBD): A Rare Case Report." Bangladesh Medical Journal 50, no. 2 (August 14, 2022): 45–49. http://dx.doi.org/10.3329/bmj.v50i2.61220.
Повний текст джерелаMehta, M., L. Wang, C. Guo, N. Warner, Q. Li, J. Pan, K. Boztug, H. Uhlig, and A. Muise. "A39 NOVEL GAIN OF FUNCTION NON-RECEPTOR TYROSINE KINASE MUTATIONS ARE LINKED TO THE PATHOGENESIS OF VEOIBD." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 46–48. http://dx.doi.org/10.1093/jcag/gwz047.038.
Повний текст джерелаEisenbarth, George S. "Etiology of Organ-Specific Autoimmunity: Basic Research and Clinical Implications in IBD." Canadian Journal of Gastroenterology 10, no. 2 (1996): 121–25. http://dx.doi.org/10.1155/1996/909212.
Повний текст джерелаFeakins, R. M., J. Torres, P. Borralho-Nunes, J. Burisch, T. Cúrdia Gonçalves, L. De Ridder, A. Driessen, et al. "DOP78 The differential diagnosis and clinicopathological spectrum of Inflammatory Bowel Disease: An interesting and informative ECCO topical review." Journal of Crohn's and Colitis 15, Supplement_1 (May 1, 2021): S110—S111. http://dx.doi.org/10.1093/ecco-jcc/jjab073.117.
Повний текст джерелаAbdel-Motal, Ussama M., Ahmad Al-Shaibi, Mamoun Elawad, and Bernice Lo. "Zero tolerance! A perspective on monogenic disorders with defective regulatory T cells and IBD-like disease." Immunological Reviews 287, no. 1 (December 18, 2018): 236–40. http://dx.doi.org/10.1111/imr.12717.
Повний текст джерелаLindoso, Livia, Mariana Deboni, Mayra Barros Dorna, Ana Paula Moschione Castro, Antonio Carlos Pastorino, and Ricardo Toma. "P053 Activated PI3K-Delta Syndrome (APDS): A Monogenic Cause of VEO-IBD That Impacts on Treatment." American Journal of Gastroenterology 114, no. 1 (December 2019): S14. http://dx.doi.org/10.14309/01.ajg.0000613180.48811.fe.
Повний текст джерелаCrowley, Eileen, Neil E. Warner, K. Fiedler, Ryan Murchie, S. Khalouei, Justin Foong, Arun Ramani, et al. "587 - Whole Exome Sequencing of over 1000 Pediatric IBD Patients from a Single Centre on an Expanded Gene Panel Identifies Monogenic Forms of IBD." Gastroenterology 154, no. 6 (May 2018): S—123. http://dx.doi.org/10.1016/s0016-5085(18)30840-0.
Повний текст джерелаZhang, Zinan Z., Yu Zhang, Tingyan He, Colin L. Sweeney, Safa Baris, Elif Karakoc-Aydiner, Yikun Yao, et al. "Homozygous IL37 mutation associated with infantile inflammatory bowel disease." Proceedings of the National Academy of Sciences 118, no. 10 (March 4, 2021): e2009217118. http://dx.doi.org/10.1073/pnas.2009217118.
Повний текст джерелаJabandžiev, Petr, Eva Hlaváčková, Viktor Bílý, Eva Karásková, Lumír Kunovský, Hana Grombiříková, Romana Kozumplíková, et al. "Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report." Gastroenterologie a hepatologie 74, no. 6 (December 22, 2020): 481–87. http://dx.doi.org/10.48095/ccgh2020481.
Повний текст джерелаFachal, L. "OP11 Expanded genome-wide association study of Inflammatory Bowel Disease identifies 174 novel loci and directly implicates new genes in disease susceptibility." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i011—i013. http://dx.doi.org/10.1093/ecco-jcc/jjab232.010.
Повний текст джерелаAmininejad, Leila, Benoit Charloteaux, Emilie Theatre, Jacques Van Cauter, Pierre Hayard, Vinciane Muls, Jean Marc Maisin, et al. "389 A Candidate Gene Study of Rare Monogenic Disorders With IBD-Like Phenotype Identified Rare Variants in XIAP Gene in a Cohort of Early-Onset IBD Patients." Gastroenterology 148, no. 4 (April 2015): S—81—S—82. http://dx.doi.org/10.1016/s0016-5085(15)30283-3.
Повний текст джерелаDe castelbajac, F., F. Charbit-Henrion, O. Goulet, N. Cerf-Bensussan, X. Treton, C. Stefanescu, D. Cazals-Hatem, et al. "P672 A tertiary multicenter cohort of patients with chronic intestinal pseudo-obstruction and Crohn’s disease: a rare association with a high prevalence of monogenic disorders." Journal of Crohn's and Colitis 15, Supplement_1 (May 1, 2021): S593—S594. http://dx.doi.org/10.1093/ecco-jcc/jjab076.792.
Повний текст джерелаGuz Mark, A., M. Aloi, L. Scarallo, M. Bramuzzo, J. C. Escher, P. Alvisi, P. Henderson, et al. "DOP69 Long-term outcome of infantile and very early onset IBD: A multi-center study from the IBD Porto group of ESPGHAN." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i112—i113. http://dx.doi.org/10.1093/ecco-jcc/jjab232.108.
Повний текст джерелаSultan, M., P. Millman, B. McCourt, N. Kol, A. Lev, M. Matar, O. Barel, et al. "DOP64 Pathogenic RIPK1 Mutations Cause Infantile-onset IBD with Inflammatory and Fistulizing Features." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i109. http://dx.doi.org/10.1093/ecco-jcc/jjab232.103.
Повний текст джерелаHuma Arshad Cheema, Nadia Waheed, Anjum Saeed, Zafar Fayyaz, Muhammad Nadeem Anjum, Muhammad Arshad Alvi, and Syeda Sara Batool. "Very early onset inflammatory bowel disease (VEO-IBD); spectrum of clinical presentation, diagnostic tools and outcome in children." Journal of the Pakistan Medical Association 71, no. 10 (July 26, 2021): 2350–54. http://dx.doi.org/10.47391/jpma.05-725.
Повний текст джерелаBeier, Rita, Daniel Kotlarz, Kaan Boztug, Erik Glocker, Eva Doreen Pfister, Jana Diestelhorst, Dhaarini Murugan, et al. "Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease – IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm." Blood 116, no. 21 (November 19, 2010): 2379. http://dx.doi.org/10.1182/blood.v116.21.2379.2379.
Повний текст джерелаBoztug, Kaan, Daniel Kotlarz, Erik Glocker, Mike E. Gertz, Alejandro A. Schäffer, Fatih Noyan, Mario Perro, et al. "Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation." Blood 114, no. 22 (November 20, 2009): 713. http://dx.doi.org/10.1182/blood.v114.22.713.713.
Повний текст джерелаYoung, Sarah, Keely McDonald, Rodney Newberry, and Lane Clarke. "EVALUATING THE ROLE OF GOBLET CELL ASSOCIATED ANTIGEN PASSAGES (GAPS) IN THE DEVELOPMENT OF MUCOSAL IMMUNE TOLERANCE IN THE CFTR KO INTESTINE." Inflammatory Bowel Diseases 27, Supplement_1 (January 1, 2021): S33. http://dx.doi.org/10.1093/ibd/izaa347.077.
Повний текст джерелаPoddar, Ujjal, Amita Aggarwal, Krishnegowda Jayalakshmi, Moinak Sen Sarma, Anshu Srivastava, Amit Rawat, and Surender Kumar Yachha. "Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India." Inflammatory Bowel Diseases, January 3, 2023. http://dx.doi.org/10.1093/ibd/izac254.
Повний текст джерелаNambu, Ryusuke, and Aleixo M. Muise. "Advanced Understanding of Monogenic Inflammatory Bowel Disease." Frontiers in Pediatrics 8 (January 22, 2021). http://dx.doi.org/10.3389/fped.2020.618918.
Повний текст джерелаZheng, Hengqi B., M. Teresa de la Morena, and David L. Suskind. "The Growing Need to Understand Very Early Onset Inflammatory Bowel Disease." Frontiers in Immunology 12 (May 26, 2021). http://dx.doi.org/10.3389/fimmu.2021.675186.
Повний текст джерелаJans, Deborah, and Isabelle Cleynen. "The genetics of non-monogenic IBD." Human Genetics, January 31, 2023. http://dx.doi.org/10.1007/s00439-023-02521-9.
Повний текст джерелаIllig, David, and Daniel Kotlarz. "Dysregulated inflammasome activity in intestinal inflammation – Insights from patients with very early onset IBD." Frontiers in Immunology 13 (November 29, 2022). http://dx.doi.org/10.3389/fimmu.2022.1027289.
Повний текст джерелаHosokawa, Takahiro, Yutaka Tanami, Yumiko Sato, Ryusuke Nambu, Itaru Iwama, and Eiji Oguma. "Role of ultrasound in the diagnosis of very early-onset inflammatory bowel disease in children: a report of three cases." Medical Ultrasonography, November 3, 2021. http://dx.doi.org/10.11152/mu-3273.
Повний текст джерелаCollen, Lauren V., David Y. Kim, Michael Field, Ibeawuchi Okoroafor, Gwen Saccocia, Sydney Driscoll Whitcomb, Julia Green, et al. "Clinical Phenotypes and Outcomes in Monogenic versus Non-Monogenic Very Early Onset Inflammatory Bowel Disease." Journal of Crohn's and Colitis, April 2, 2022. http://dx.doi.org/10.1093/ecco-jcc/jjac045.
Повний текст джерелаSasahara, Yoji, Takashi Uchida, Tasuku Suzuki, and Daiki Abukawa. "Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia." Frontiers in Immunology 12 (January 13, 2022). http://dx.doi.org/10.3389/fimmu.2021.786538.
Повний текст джерелаBader-Meunier, Brigitte, Andreia Luís Martins, Fabienne Charbit-Henrion, Ulrich Meinzer, Alexandre Belot, Laurence Cuisset, Albert Faye, et al. "Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases, September 15, 2021. http://dx.doi.org/10.1093/ibd/izab139.
Повний текст джерелаOuahed, Jodie. "Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases, September 15, 2021. http://dx.doi.org/10.1093/ibd/izab145.
Повний текст джерелаKrawiec, Paulina, Agnieszka Pawłowska-Kamieniak, and Elżbieta Pac-Kożuchowska. "Interleukin 10 and interleukin 10 receptor in paediatric inflammatory bowel disease: from bench to bedside lesson." Journal of Inflammation 18, no. 1 (March 10, 2021). http://dx.doi.org/10.1186/s12950-021-00279-3.
Повний текст джерелаOuahed, Jodie Deborah. "Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease." Frontiers in Immunology 13 (September 29, 2022). http://dx.doi.org/10.3389/fimmu.2022.1026511.
Повний текст джерелаShaul, Eliana, Máire A. Conrad, Noor Dawany, Trusha Patel, Megan C. Canavan, Alyssa Baccarella, Sarah Weinbrom, Daniel Aleynick, Kathleen E. Sullivan, and Judith R. Kelsen. "Canakinumab for the treatment of autoinflammatory very early onset- inflammatory bowel disease." Frontiers in Immunology 13 (September 20, 2022). http://dx.doi.org/10.3389/fimmu.2022.972114.
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