Artículos de revistas sobre el tema "Monogenic IBD"
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Nambu, R., N. Warner, D. J. Mulder y 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 (1 de marzo de 2021): 145–47. http://dx.doi.org/10.1093/jcag/gwab002.025.
Texto completoJezernik, Gregor, Dušanka Mičetić-Turk y Uroš Potočnik. "Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD". Journal of Personalized Medicine 10, n.º 4 (26 de noviembre de 2020): 243. http://dx.doi.org/10.3390/jpm10040243.
Texto completoOuahed, 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, n.º 6 (3 de diciembre de 2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.
Texto completoLega, 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, n.º 5 (3 de agosto de 2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.
Texto completoLevine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng y David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases". Pharmaceutics 15, n.º 3 (17 de marzo de 2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.
Texto completoLeung, Gabriella y Aleixo M. Muise. "Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease". Physiology 33, n.º 5 (1 de septiembre de 2018): 360–69. http://dx.doi.org/10.1152/physiol.00020.2018.
Texto completoCharbit-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, n.º 9 (18 de mayo de 2018): 1104–12. http://dx.doi.org/10.1093/ecco-jcc/jjy068.
Texto completoGramaglia, S. M. C., U. Cucinotta, V. Dipasquale, A. Serena, P. Gandullia y 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 (1 de enero de 2022): i330. http://dx.doi.org/10.1093/ecco-jcc/jjab232.427.
Texto completoCollen, 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 (26 de enero de 2023): S56. http://dx.doi.org/10.1093/ibd/izac247.108.
Texto completoGramaglia, S. M. C., U. Cucinotta, V. Dipasquale, S. Arrigo, P. Gandullia y 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 (1 de enero de 2022): i304. http://dx.doi.org/10.1093/ecco-jcc/jjab232.390.
Texto completoSchwärzler, J. P., A. Zollner, T. Dolejsi, B. Enrich, L. Mayr, W. Sturm, I. Tancevski, J. Zschocke, T. E. Adolph y H. Tilg. "P302 Precision medicine for a case with monogenic inflammatory bowel disease". Journal of Crohn's and Colitis 17, Supplement_1 (30 de enero de 2023): i446—i448. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0432.
Texto completoMagg, 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, n.º 11 (22 de mayo de 2019): 1788–95. http://dx.doi.org/10.1093/ibd/izz103.
Texto completoShumilov, P. V. y A. E. Shchigoleva. "Features of very early-onset inflammatory bowel disease: the experience of the Federal Pediatric Center". Voprosy detskoj dietologii 19, n.º 3 (2021): 5–13. http://dx.doi.org/10.20953/1727-5784-2021-3-5-13.
Texto completoAlghoul, Zahra, Chunhua Yang y Didier Merlin. "The Current Status of Molecular Biomarkers for Inflammatory Bowel Disease". Biomedicines 10, n.º 7 (24 de junio de 2022): 1492. http://dx.doi.org/10.3390/biomedicines10071492.
Texto completoCrowley, E., N. Warner, K. Fiedler, R. Murchie, P. Church, T. D. Walters, A. Griffiths y 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 (febrero de 2018): 21. http://dx.doi.org/10.1093/jcag/gwy009.013.
Texto completoMateos, B., A. Gaite, I. Rodríguez-Lago y 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 (30 de enero de 2023): i155—i157. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0119.
Texto completoBolton, 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, n.º 1 (3 de junio de 2019): 142–47. http://dx.doi.org/10.1093/ecco-jcc/jjz112.
Texto completoEnsari, Arzu, Judith Kelsen y Pierre Russo. "Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD". Virchows Archiv 472, n.º 1 (17 de julio de 2017): 111–23. http://dx.doi.org/10.1007/s00428-017-2197-9.
Texto completoAlahmari, A. A., A. M. Al-Bahlani, B. Frenette, A. Xuan-Lan Nguyen, N. Ahmed y 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 (febrero de 2020): 128–29. http://dx.doi.org/10.1093/jcag/gwz047.250.
Texto completoAhamed, Nazmul, Mukesh Khadga, Wahiduzzaman Majumder y Md Rukunuzzaman. "An Eleven Months Old Infant with Very Early Onset Inflammatory Bowel Diseases (IBD): A Rare Case Report". Bangladesh Medical Journal 50, n.º 2 (14 de agosto de 2022): 45–49. http://dx.doi.org/10.3329/bmj.v50i2.61220.
Texto completoMehta, M., L. Wang, C. Guo, N. Warner, Q. Li, J. Pan, K. Boztug, H. Uhlig y 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 (febrero de 2020): 46–48. http://dx.doi.org/10.1093/jcag/gwz047.038.
Texto completoEisenbarth, George S. "Etiology of Organ-Specific Autoimmunity: Basic Research and Clinical Implications in IBD". Canadian Journal of Gastroenterology 10, n.º 2 (1996): 121–25. http://dx.doi.org/10.1155/1996/909212.
Texto completoFeakins, 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 (1 de mayo de 2021): S110—S111. http://dx.doi.org/10.1093/ecco-jcc/jjab073.117.
Texto completoAbdel-Motal, Ussama M., Ahmad Al-Shaibi, Mamoun Elawad y Bernice Lo. "Zero tolerance! A perspective on monogenic disorders with defective regulatory T cells and IBD-like disease". Immunological Reviews 287, n.º 1 (18 de diciembre de 2018): 236–40. http://dx.doi.org/10.1111/imr.12717.
Texto completoLindoso, Livia, Mariana Deboni, Mayra Barros Dorna, Ana Paula Moschione Castro, Antonio Carlos Pastorino y Ricardo Toma. "P053 Activated PI3K-Delta Syndrome (APDS): A Monogenic Cause of VEO-IBD That Impacts on Treatment". American Journal of Gastroenterology 114, n.º 1 (diciembre de 2019): S14. http://dx.doi.org/10.14309/01.ajg.0000613180.48811.fe.
Texto completoCrowley, 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, n.º 6 (mayo de 2018): S—123. http://dx.doi.org/10.1016/s0016-5085(18)30840-0.
Texto completoZhang, 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, n.º 10 (4 de marzo de 2021): e2009217118. http://dx.doi.org/10.1073/pnas.2009217118.
Texto completoJabandžiev, 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, n.º 6 (22 de diciembre de 2020): 481–87. http://dx.doi.org/10.48095/ccgh2020481.
Texto completoFachal, 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 (1 de enero de 2022): i011—i013. http://dx.doi.org/10.1093/ecco-jcc/jjab232.010.
Texto completoAmininejad, 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, n.º 4 (abril de 2015): S—81—S—82. http://dx.doi.org/10.1016/s0016-5085(15)30283-3.
Texto completoDe 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 (1 de mayo de 2021): S593—S594. http://dx.doi.org/10.1093/ecco-jcc/jjab076.792.
Texto completoGuz 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 (1 de enero de 2022): i112—i113. http://dx.doi.org/10.1093/ecco-jcc/jjab232.108.
Texto completoSultan, 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 (1 de enero de 2022): i109. http://dx.doi.org/10.1093/ecco-jcc/jjab232.103.
Texto completoHuma Arshad Cheema, Nadia Waheed, Anjum Saeed, Zafar Fayyaz, Muhammad Nadeem Anjum, Muhammad Arshad Alvi y 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, n.º 10 (26 de julio de 2021): 2350–54. http://dx.doi.org/10.47391/jpma.05-725.
Texto completoBeier, 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, n.º 21 (19 de noviembre de 2010): 2379. http://dx.doi.org/10.1182/blood.v116.21.2379.2379.
Texto completoBoztug, 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, n.º 22 (20 de noviembre de 2009): 713. http://dx.doi.org/10.1182/blood.v114.22.713.713.
Texto completoYoung, Sarah, Keely McDonald, Rodney Newberry y 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 (1 de enero de 2021): S33. http://dx.doi.org/10.1093/ibd/izaa347.077.
Texto completoPoddar, Ujjal, Amita Aggarwal, Krishnegowda Jayalakshmi, Moinak Sen Sarma, Anshu Srivastava, Amit Rawat y 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, 3 de enero de 2023. http://dx.doi.org/10.1093/ibd/izac254.
Texto completoNambu, Ryusuke y Aleixo M. Muise. "Advanced Understanding of Monogenic Inflammatory Bowel Disease". Frontiers in Pediatrics 8 (22 de enero de 2021). http://dx.doi.org/10.3389/fped.2020.618918.
Texto completoZheng, Hengqi B., M. Teresa de la Morena y David L. Suskind. "The Growing Need to Understand Very Early Onset Inflammatory Bowel Disease". Frontiers in Immunology 12 (26 de mayo de 2021). http://dx.doi.org/10.3389/fimmu.2021.675186.
Texto completoJans, Deborah y Isabelle Cleynen. "The genetics of non-monogenic IBD". Human Genetics, 31 de enero de 2023. http://dx.doi.org/10.1007/s00439-023-02521-9.
Texto completoIllig, David y Daniel Kotlarz. "Dysregulated inflammasome activity in intestinal inflammation – Insights from patients with very early onset IBD". Frontiers in Immunology 13 (29 de noviembre de 2022). http://dx.doi.org/10.3389/fimmu.2022.1027289.
Texto completoHosokawa, Takahiro, Yutaka Tanami, Yumiko Sato, Ryusuke Nambu, Itaru Iwama y Eiji Oguma. "Role of ultrasound in the diagnosis of very early-onset inflammatory bowel disease in children: a report of three cases". Medical Ultrasonography, 3 de noviembre de 2021. http://dx.doi.org/10.11152/mu-3273.
Texto completoCollen, 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, 2 de abril de 2022. http://dx.doi.org/10.1093/ecco-jcc/jjac045.
Texto completoSasahara, Yoji, Takashi Uchida, Tasuku Suzuki y Daiki Abukawa. "Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia". Frontiers in Immunology 12 (13 de enero de 2022). http://dx.doi.org/10.3389/fimmu.2021.786538.
Texto completoBader-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, 15 de septiembre de 2021. http://dx.doi.org/10.1093/ibd/izab139.
Texto completoOuahed, Jodie. "Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease". Inflammatory Bowel Diseases, 15 de septiembre de 2021. http://dx.doi.org/10.1093/ibd/izab145.
Texto completoKrawiec, Paulina, Agnieszka Pawłowska-Kamieniak y Elżbieta Pac-Kożuchowska. "Interleukin 10 and interleukin 10 receptor in paediatric inflammatory bowel disease: from bench to bedside lesson". Journal of Inflammation 18, n.º 1 (10 de marzo de 2021). http://dx.doi.org/10.1186/s12950-021-00279-3.
Texto completoOuahed, Jodie Deborah. "Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease". Frontiers in Immunology 13 (29 de septiembre de 2022). http://dx.doi.org/10.3389/fimmu.2022.1026511.
Texto completoShaul, Eliana, Máire A. Conrad, Noor Dawany, Trusha Patel, Megan C. Canavan, Alyssa Baccarella, Sarah Weinbrom, Daniel Aleynick, Kathleen E. Sullivan y Judith R. Kelsen. "Canakinumab for the treatment of autoinflammatory very early onset- inflammatory bowel disease". Frontiers in Immunology 13 (20 de septiembre de 2022). http://dx.doi.org/10.3389/fimmu.2022.972114.
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