Relevant bibliographies by topics / Monogenic IBD

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters

Academic literature on the topic 'Monogenic IBD'

Author: Grafiati
Published: 1 April 2023
Last updated: 31 July 2025

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Journal articles on the topic "Monogenic IBD"

1

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 (2021): 145–47. http://dx.doi.org/10.1093/jcag/gwab002.025.

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Abstract Background Advances in genomic technologies have led to an increase in reports of monogenic inflammatory bowel disease (IBD). The majority of the studies on monogenic IBD have focused only on young children aged <6 years. There are no detailed reports containing a comprehensive picture of monogenic IBD with specific numbers on the clinical features, genetic profiles and disease course. Since each gene-specific cause of monogenic IBD is rare, it is difficult to collect cases in a single study even with international cohort studies. Aims To elucidate a comprehensive picture of mo
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Jezernik, 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 (2020): 243. http://dx.doi.org/10.3390/jpm10040243.

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Inflammatory bowel disease (IBD) manifests as a complex disease resulting from gene–environment interactions or as a monogenic disease resulting from deleterious mutations. While monogenic IBD is predominantly pediatric, only one-quarter of complex IBD is pediatric. In this study, we were the first to systematically compare genetic architecture between monogenic and complex pediatric and adult IBD on genetic and molecular pathway levels. Genes reported as causal for monogenic pediatric IBD and related syndromes and as risk factors for pediatric and adult complex IBD were analyzed using CytoSca
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Ouahed, Jodie, Elizabeth Spencer, Daniel Kotlarz, 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 (2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.

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Abstract Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before 6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some distinct characteristics such as a higher likelihood of an underlying monogenic etiology or primary immune deficiency. In addition, patients with VEO-IBD have a higher incidence of inflammatory bowel disease unclassified (IBD-U) as compared with older-onset IBD. In some populations, VEO-IBD represents the age group with the fastest growing incidence of IBD. There are contradicting reports on whether VEO-IBD is mo
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Lega, Sara, Alessia Pin, Serena Arrigo, et al. "Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience." Inflammatory Bowel Diseases 26, no. 5 (2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.

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Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent
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Levine, 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 (2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.

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Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD
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Xiao, F., H. Liu, J. Xu, Y. Shen, and J. Liao. "P186 Comparative Analysis of Clinical Phenotypes and Pathogenic Features between Late-Onset and Infantile-Onset Monogenic Inflammatory Bowel Disease." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i495. http://dx.doi.org/10.1093/ecco-jcc/jjad212.0316.

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Abstract Background Previous research on monogenic IBD (m-IBD) has mainly focused on very-early-onset IBD (VEO-IBD) and Montreal classification A1 type IBD patients. In non-A1 type (age > 16y) late-onset IBD patients, some individuals also exhibit IBD manifestations due to monogenic mutations. Here we systematically review the literature, using infantile-onset monogenic IBD patients as a control, to explore the genetic characteristics, clinical presentations, and treatment strategies of late-onset monogenic IBD. Methods Based on the onset age of IBD, m-IBD was categorized into infantile
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Heidari, Alireza. "Systematic Reviews and Meta-Analyses in Application of Artificial Intelligence (AI) to Clinical Gastroenterology and Hepatology Practice." New Medical Innovations and Research 4, no. 9 (2023): 01–08. https://doi.org/10.31579/2767-7370/079.

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Related to the look at of tiny chemical commands inside cells remedy allows the identity of patients with uncommon or extremely-rare monogenic forms of insulting/swelling bowel disease (IBD) and supports medicine-primarily based decision making. patients with monogenic IBD regularly revel in very early beginning of remedy-stubborn and disobedient/tough to remedy ailment, with complicated extraintestinal disease much like immunodeficiency. for the reason that extra than a hundred monogenic diseases/problems can present with IBD, new (associated with tiny chemical meeting commands internal of re
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Shadrin, O. G., T. L. Marushko, A. P. Volokha, R. V. Marushko, R. V. Mostovenko, and M. G. Goryanska. "Challenges in diagnosing IBD-like intestinal lesions in young children." Modern pediatrics. Ukraine, no. 2(146) (March 28, 2025): 147–56. https://doi.org/10.15574/sp.2025.2(146).147156.

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Among inflammatory bowel diseases (IBD) with very early onset, particularly in children under two years of age (Infantile Form IBD), monogenic IBD-like disorders account for a significant proportion — up to 35%. Most of these conditions are associated with congenital immunodeficiencies. Our research also suggests a possible link between IBD-like intestinal mucosal lesions and certain congenital gastrointestinal malformations (such as neuropathy and myopathy) as well as severe viral infections, including COVID-19. Aim - using the example of a clinical case, to show the phenotypic features, diff
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Leung, Gabriella, and Aleixo M. Muise. "Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease." Physiology 33, no. 5 (2018): 360–69. http://dx.doi.org/10.1152/physiol.00020.2018.

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The incidence of inflammatory bowel disease (IBD) is increasing worldwide, most notably in young children. The development of disease is a combination of several factors, including genetics, environment, the microbiota, and immune system. Recently, next-generation sequencing has allowed for the identification of novel genetic causes for intestinal disease, including pediatric inflammatory bowel disease (IBD). These IBD genes can generally be grouped into genes causing either primary immunodeficiency or intestinal epithelial defects (the focus of this review). Most of these genes have been func
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Demirtas Guner, Duygu, Hacer Neslihan Bildik, Hulya Demir, et al. "Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications." Children 12, no. 5 (2025): 536. https://doi.org/10.3390/children12050536.

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Background/Objectives: This study aims to identify genetic variants associated with early-onset inflammatory bowel disease (IBD) and to improve diagnostic and therapeutic approaches. In selected monogenic IBD cases, treatment included colchicine, interleukin-1 inhibitors, and hematopoietic stem cell transplantation. Methods: This study included patients with early-onset IBD, defined as IBD diagnosed before the age of 10, who were under follow-up at the Department of Pediatric Gastroenterology, Hacettepe University, and agreed to participate between December 2018 and April 2021. Whole-exome seq
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Dissertations / Theses on the topic "Monogenic IBD"

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LEGA, SARA. "DIAGNOSTIC APPROACH TO MONOGENIC INFLAMMATORY BOWEL DISEASE WITH NEXT-GENERATION SEQUENCING TECHNOLOGIES." Doctoral thesis, Università degli Studi di Trieste, 2019. http://hdl.handle.net/11368/2962378.

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Background & aims: Up to 15% inflammatory bowel diseases (IBD) rising before the age of 6 years, defined as Very-Early-Onset IBD (VEO-IBD), may have a monogenic disease. More rarely monogenic defects are found in later onset IBD. Monogenic IBD are associated with high morbidity and mortality and timely genetic diagnosis is essential for adequate treatment. Due to the wide phenotypic and genetic heterogeneity of these conditions, it is often difficult to reach a genetic diagnosis and the best diagnostic approach is still debated. Next generation sequencing (NGS) techniques have been proposed as
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PIN, ALESSIA. "VEO-IBD AS MODELS FOR PATHOGENIC STUDIES AND DEVELOPMENT OF PRECISION THERAPIES." Doctoral thesis, Università degli Studi di Trieste, 2020. http://hdl.handle.net/11368/2961244.

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Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEOIBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Monogenic VEOIBD diagnostic approach changed over time, especially after the advent of next generation sequencing (NGS) techniques. NGS should be preferred in patients with nonspec
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Günther, Claudia, Michael Meurer, Annette Stein, Antje Viehweg, and Min-Ae Lee-Kirsch. "Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1." Karger, 2009. https://tud.qucosa.de/id/qucosa%3A27650.

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Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in whi
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Williams, Alan. "Systematics and ecology of selected monogenea from Western Australia." Thesis, Williams, Alan (1988) Systematics and ecology of selected monogenea from Western Australia. PhD thesis, Murdoch University, 1988. https://researchrepository.murdoch.edu.au/id/eprint/51986/.

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This study of monogeneans from marine and estarine fishes of the Perth area in Western Australia is divided into three main sections. The first of these is a taxonomic survey which examines 29 teleost species that are common in the Swan River Estuary and adjacent coastal marine embayraents. Thirty-nine species of monogeneans from 10 families were collected and their taxonomy examined. The parasite fauna is discussed in terms of host specificity and species diversity, and the monogenean fauna is compared to that from other geographical localities. The second part of the study details the
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Reinhardt, Martin. "Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing." 2018. https://tubaf.qucosa.de/id/qucosa%3A33489.

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Die Dissertation mit dem Titel 'Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing' beschäftigt sich mit modernen Verfahren der Signalverarbeitung in der Bildgebung sowie in der Bildverarbeitung. Hierzu werden Riesz-Transformationen und translationsinvariante Wavelet Frames zu monogenen Frames vereint und angewandt. Bekannte Techniken wie der Strukturtensor und der Energieoperator werden mit Hilfe der neuen Verfahren verbessert und für die Orientierungsbestimmung in Bildern genutzt. Eine weitere Anwendung stellt der Algorithmus 'Equalization of Brigh
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Books on the topic "Monogenic IBD"

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Schwartz, Peter J., and Lia Crotti. Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0152.

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-sympt
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Book chapters on the topic "Monogenic IBD"

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Schwartz, Peter J., and Lia Crotti. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0152_update_001.

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-sympt
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2

Oliva Mussarra, Clara, and Judit García-Villoria. "Metabolomic Diagnostic in Inherited Metabolic Disorders: Historical Progress and Future Perspectives." In High-Performance Liquid Chromatography - New Advances and Applications [Working Title]. IntechOpen, 2024. http://dx.doi.org/10.5772/intechopen.1006583.

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Inherited metabolic disorders (IMD) encompass a diverse range of monogenic disorders disrupting metabolic pathways, leading to significant morbidity and mortality. While some treatable IMD are part of newborn screening programs, the majority remain challenging to diagnose early. Targeted metabolomics, analyzing specific metabolites in biological fluids, has evolved from disease-specific tests to advanced chromatographic techniques such as gas chromatography, high performance liquid chromatography and GC-mass spectrometry (MS). The development of tandem MS in the 1990s marked a pivotal advancem
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