RICHARD KELLERMAYER to Humans
This is a "connection" page, showing publications RICHARD KELLERMAYER has written about Humans.
Connection Strength
1.433
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MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population. Inflamm Bowel Dis. 2025 01 06; 31(1):189-199.
Score: 0.026
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Ultrasound was critical in the diagnosis of a late presentation enteric duplication cyst. J Pediatr Gastroenterol Nutr. 2024 Aug; 79(2):446-448.
Score: 0.026
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Failure Rate of Anti-Tumor Necrosis Factor a Biologics in Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2024 03 01; 30(3):510-512.
Score: 0.025
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Genetic Variation Between Small Bowel and Colon-Predominant Crohn's Disease. Cell Mol Gastroenterol Hepatol. 2024; 17(6):1069-1071.
Score: 0.025
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An interesting endoscopic presentation of fecal stream diversion colitis. J Pediatr Gastroenterol Nutr. 2024 Apr; 78(4):996-997.
Score: 0.025
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Stochasticity Driven Limitations for Counseling in Autoimmune Gastrointestinal Disease. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):695-697.
Score: 0.024
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Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. J Pediatr Gastroenterol Nutr. 2023 09 01; 77(3):354-357.
Score: 0.024
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Letter: fulminant-onset complicated inflammatory bowel disease (IBD)-a unique subtype? Aliment Pharmacol Ther. 2023 05; 57(10):1192-1193.
Score: 0.024
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Disturbed Pediatric Gut Microbiome Maturation in the Developmental Origins of Subsequent Chronic Disease. J Pediatr Gastroenterol Nutr. 2023 02 01; 76(2):123-127.
Score: 0.023
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Infliximab Can Be Effective in Pediatric Patients with Ulcerative Colitis and Primary Failure of Adalimumab. Ann Clin Lab Sci. 2022 Sep; 52(5):796-801.
Score: 0.022
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Routine Histology-Based Diagnosis of CMV Colitis Was Rare in Pediatric Patients. J Pediatr Gastroenterol Nutr. 2022 10 01; 75(4):462-465.
Score: 0.022
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Racial and Ethnic Variation in Presentation, Diagnosis, Treatment, and Outcome of Pediatric Crohn Disease: A Single Center Study. J Pediatr Gastroenterol Nutr. 2022 09 01; 75(3):313-319.
Score: 0.022
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Mucosal microbiome is predictive of pediatric Crohn's disease across geographic regions in North America. F1000Res. 2022; 11:156.
Score: 0.022
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Fecal Microbiota Transplantation Commonly Failed in Children With Co-Morbidities. J Pediatr Gastroenterol Nutr. 2022 02 01; 74(2):227-235.
Score: 0.022
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Updates and Challenges in Fecal Microbiota Transplantation for Clostridioides difficile Infection in Children. J Pediatr Gastroenterol Nutr. 2021 10 01; 73(4):430-432.
Score: 0.021
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High Seroconversion Rate Against Severe Acute Respiratory Syndrome Coronavirus 2 in Symptomatic Pediatric Inflammatory Bowel Disease Patients. J Pediatr Gastroenterol Nutr. 2021 09 01; 73(3):363-366.
Score: 0.021
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Alternative Diagnoses in Pediatric Fecal Microbiota Transplant Referral Patients. J Pediatr Gastroenterol Nutr. 2021 05 01; 72(5):693-696.
Score: 0.021
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Natural unblinding of BCG vaccination trials. Vaccine. 2021 04 08; 39(15):2017-2019.
Score: 0.020
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Validation of Predictive Models in Inflammatory Bowel Diseases. Gastroenterology. 2021 01; 160(1):21-22.
Score: 0.020
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The Gut Microbiome and the Triple Environmental Hit Concept of Inflammatory Bowel Disease Pathogenesis. J Pediatr Gastroenterol Nutr. 2020 11; 71(5):589-595.
Score: 0.020
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BCG epidemiology supports its protection against COVID-19? A word of caution. PLoS One. 2020; 15(10):e0240203.
Score: 0.020
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Asymptomatic Anisakiasis in a Patient With Crohn Disease. J Pediatr Gastroenterol Nutr. 2020 08; 71(2):e72.
Score: 0.019
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Parental Education May Differentially Impact Pediatric Inflammatory Bowel Disease Phenotype Risk. Inflamm Bowel Dis. 2020 06 18; 26(7):1068-1076.
Score: 0.019
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Durable Clinical and Biochemical but Not Endoscopic Remission in Pediatric Crohn's Disease on Specific Carbohydrate Diet Monotherapy. Ann Clin Lab Sci. 2020 May; 50(3):316-320.
Score: 0.019
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Progression to colectomy in the era of biologics: A single center experience with pediatric ulcerative colitis. J Pediatr Surg. 2020 Sep; 55(9):1815-1823.
Score: 0.019
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Fecal microbiota transplantation in a toddler after heart transplant was a safe and effective treatment for recurrent Clostridiodes difficile infection: A case report. Pediatr Transplant. 2020 02; 24(1):e13598.
Score: 0.018
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Response to: Treatment of (Recurrent) Clostridioides difficile Infections in Children and Adults. J Pediatr Gastroenterol Nutr. 2019 08; 69(2):e58-e59.
Score: 0.018
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Roseburia Species: Prime Candidates for Microbial Therapeutics in Inflammatory Bowel Disease. Gastroenterology. 2019 10; 157(4):1164-1165.
Score: 0.018
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Carbohydrate Monotony as Protection and Treatment for Inflammatory Bowel Disease. J Crohns Colitis. 2019 Jul 25; 13(7):942-948.
Score: 0.018
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The Gut Microbiome: A Difficult Target for Translational Studies of Clostridium difficile Colonization. J Pediatr Gastroenterol Nutr. 2019 04; 68(4):463-464.
Score: 0.018
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Diagnostic delay and colectomy risk in pediatric ulcerative colitis. J Pediatr Surg. 2020 Mar; 55(3):403-405.
Score: 0.018
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Giant Cell [Granulomatous] Gastritis in Left-sided Paediatric Ulcerative Colitis. J Crohns Colitis. 2019 03 26; 13(3):396-397.
Score: 0.018
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Right-sided Colonic Juvenile Polyp [Polyps] in Paediatric Primary Sclerosing Cholangitis Patients. J Crohns Colitis. 2018 Nov 15; 12(11):1375-1376.
Score: 0.017
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Academic Stress May Contribute to the Onset of Pediatric Inflammatory Bowel Diseases. J Pediatr Gastroenterol Nutr. 2018 10; 67(4):e73-e76.
Score: 0.017
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PCR Based Fecal Pathogen Panel Testing Should Be Interpreted with Caution at Diagnosis of Pediatric Inflammatory Bowel Diseases. Ann Clin Lab Sci. 2018 Sep; 48(5):674-676.
Score: 0.017
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Compliance With Fecal Calprotectin Testing in Pediatric Patients With Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2018 06; 66(6):932-933.
Score: 0.017
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Granulomatous Upper Gastrointestinal Inflammation in Pediatric Ulcerative Colitis. J Pediatr Gastroenterol Nutr. 2018 04; 66(4):620-623.
Score: 0.017
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Challenges for epigenetic research in inflammatory bowel diseases. Epigenomics. 2017 04; 9(4):527-538.
Score: 0.015
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Inflammatory Bowel Disease and Immune Thrombocytopenic Purpura: Combined Immune Dysregulation in an Adolescent. Ann Clin Lab Sci. 2017 Mar; 47(2):226-228.
Score: 0.015
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Composition and function of the pediatric colonic mucosal microbiome in untreated patients with ulcerative colitis. Gut Microbes. 2016 09 02; 7(5):384-96.
Score: 0.015
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Colonic Mucosal Epigenome and Microbiome Development in Children and Adolescents. J Immunol Res. 2016; 2016:9170162.
Score: 0.014
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Hyperlipasemia in Pediatric Inflammatory Bowel Diseases. Pancreas. 2016 Feb; 45(2):e2-3.
Score: 0.014
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The forgotten yeast model of Hailey-Hailey disease. Int J Dermatol. 2016 Mar; 55(3):e169-70.
Score: 0.014
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Burdening questions about Clostridium difficile in pediatric inflammatory bowel diseases. J Pediatr Gastroenterol Nutr. 2015 Apr; 60(4):421-2.
Score: 0.013
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Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis. Am J Gastroenterol. 2015 Apr; 110(4):604-6.
Score: 0.013
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Diagnostic Yield of Routine Enteropathogenic Stool Tests in Pediatric Ulcerative Colitis. Ann Clin Lab Sci. 2015; 45(6):639-42.
Score: 0.013
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Microbiome associations of therapeutic enteral nutrition. Nutrients. 2014 Nov 21; 6(11):5298-311.
Score: 0.013
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Allopurinol: a useful adjunct to thiopurine therapy for pediatric ulcerative colitis in the biologic era. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):22-4.
Score: 0.013
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DNA methylation-associated colonic mucosal immune and defense responses in treatment-na?ve pediatric ulcerative colitis. Epigenetics. 2014 Aug; 9(8):1131-7.
Score: 0.013
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Duration of disease may predict response to infliximab in pediatric ulcerative colitis. J Clin Gastroenterol. 2014 Mar; 48(3):248-52.
Score: 0.012
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Mucosal mast cell counts in pediatric eosinophilic gastrointestinal disease. Pediatr Allergy Immunol. 2014 Feb; 25(1):94-5.
Score: 0.012
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Clostridium difficile infection in newly diagnosed pediatric inflammatory bowel disease in the mid-southern United States. J Pediatr Gastroenterol Nutr. 2013 Oct; 57(4):487-8.
Score: 0.012
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Perianal papillomatous Crohn's disease in a male adolescent. Clin Gastroenterol Hepatol. 2014 Feb; 12(2):e9.
Score: 0.012
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Hurdles for epigenetic disease associations from peripheral blood leukocytes. Inflamm Bowel Dis. 2013 Apr; 19(5):E66-7.
Score: 0.012
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Cellulose supplementation early in life ameliorates colitis in adult mice. PLoS One. 2013; 8(2):e56685.
Score: 0.012
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Human metastable epiallele candidates link to common disorders. Epigenetics. 2013 Feb; 8(2):157-63.
Score: 0.012
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Epigenetics and the developmental origins of inflammatory bowel diseases. Can J Gastroenterol. 2012 Dec; 26(12):909-15.
Score: 0.011
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Microbiota separation and C-reactive protein elevation in treatment-na?ve pediatric granulomatous Crohn disease. J Pediatr Gastroenterol Nutr. 2012 Sep; 55(3):243-50.
Score: 0.011
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Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases. Inflamm Bowel Dis. 2012 Dec; 18(12):2334-41.
Score: 0.011
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SMAD4 haploinsufficiency associates with augmented colonic inflammation in select humans and mice. Ann Clin Lab Sci. 2012; 42(4):401-8.
Score: 0.011
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Congenital tufting enteropathy in the era of molecular genetics. J Pediatr Gastroenterol Nutr. 2011 Sep; 53(3):355.
Score: 0.010
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The remarkable capacity for gut microbial and host interactions. Gut Microbes. 2011 May-Jun; 2(3):178-82.
Score: 0.010
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Maternal methyl-donor supplementation induces prolonged murine offspring colitis susceptibility in association with mucosal epigenetic and microbiomic changes. Hum Mol Genet. 2011 May 01; 20(9):1687-96.
Score: 0.010
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Peri-appendiceal inflammation in an 8-year-old child with chronic ulcerative colitis. Ann Clin Lab Sci. 2011; 41(3):288-9.
Score: 0.010
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Genetic drift. "Omics"as the filtering gateway between environment and phenotype: The inflammatory bowel diseases example. Am J Med Genet A. 2010 Dec; 152A(12):3022-5.
Score: 0.010
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Assessment of DNA methylation at the interferon regulatory factor 5 (IRF5) promoter region in inflammatory bowel diseases. Int J Colorectal Dis. 2010 May; 25(5):553-6.
Score: 0.009
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Further evidence for EpCAM as the gene for congenital tufting enteropathy. Am J Med Genet A. 2010 Jan; 152A(1):222-4.
Score: 0.009
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A cryptic unbalanced translocation resulting in del 13q and dup 15q. Am J Med Genet A. 2008 Oct 01; 146A(19):2570-3.
Score: 0.009
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Steroid responsive eosinophilic gastric outlet obstruction in a child. World J Gastroenterol. 2008 Apr 14; 14(14):2270-1.
Score: 0.008
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Clinical challenges and images in GI. Aortitis as a rare complication of Crohn's disease. Gastroenterology. 2008 Mar; 134(3):668, 898.
Score: 0.008
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Hailey-Hailey disease from a clinical perspective. Cell Calcium. 2008 Feb; 43(2):105-6.
Score: 0.008
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Cytomegalovirus esophagitis preceding the diagnosis of systemic lupus erythematosus. Endoscopy. 2007 Feb; 39 Suppl 1:E218.
Score: 0.008
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Upper gastrointestinal malformations in Coffin-Siris syndrome. Am J Med Genet A. 2007 Jul 01; 143A(13):1519-21.
Score: 0.008
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Autosomal-dominant calcium ATPase disorders. J Invest Dermatol. 2006 Nov; 126(11):2370-6.
Score: 0.007
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Translational readthrough induction of pathogenic nonsense mutations. Eur J Med Genet. 2006 Nov-Dec; 49(6):445-50.
Score: 0.007
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The versatile RECQL4. Genet Med. 2006 Apr; 8(4):213-6.
Score: 0.007
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Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. J Invest Dermatol. 2006 Jan; 126(1):229-31.
Score: 0.007
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Mos 46,XX,r(18).ish r(18)(18ptel-,18qtel-)/46,XX.ish del(18)(18ptel-): an example for successive ring chromosome formation. Am J Med Genet A. 2005 Dec 15; 139(3):234-5.
Score: 0.007
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[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary]. Orv Hetil. 2005 Sep 11; 146(37):1933-5.
Score: 0.007
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Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae. FEBS Lett. 2005 Apr 11; 579(10):2021-5.
Score: 0.007
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Hailey-Hailey disease and calcium: lessons from yeast. J Invest Dermatol. 2004 Dec; 123(6):1195-6.
Score: 0.007
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Clinical presentation of parvovirus B19 infection in children with aplastic crisis. Pediatr Infect Dis J. 2003 Dec; 22(12):1100-1.
Score: 0.006
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Donor-recipient specificity and age-dependency in fecal microbiota therapy and probiotic resolution of gastrointestinal symptoms. NPJ Biofilms Microbiomes. 2023 08 03; 9(1):54.
Score: 0.006
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NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):748-752.
Score: 0.006
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Fecal Microbiota Transplantation for Clostridioides difficile Infection in Immunocompromised Pediatric Patients. J Pediatr Gastroenterol Nutr. 2023 04 01; 76(4):440-446.
Score: 0.006
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Clostridioides difficile Infection in Hospitalized Pediatric Patients: Comparisons of Epidemiology, Testing, and Treatment from 2013 to 2019. J Pediatr. 2023 01; 252:111-116.e1.
Score: 0.006
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Efficacy and Outcomes of Faecal Microbiota Transplantation for Recurrent Clostridioides difficile Infection in Children with Inflammatory Bowel Disease. J Crohns Colitis. 2022 06 24; 16(5):768-777.
Score: 0.006
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Methylation quantitative trait loci are largely consistent across disease states in Crohn's disease. G3 (Bethesda). 2022 04 04; 12(4).
Score: 0.005
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Pediatric Fecal Microbiota Transplantation in Recurrent Clostridioides Difficile. Pediatr Ann. 2021 Dec; 50(12):e515-e521.
Score: 0.005
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SULT1A1 and SULT1A2 Associated Extensive Prolapse-Type Inflammatory Polyposis in Crohn's Colitis. Ann Clin Lab Sci. 2021 Nov; 51(6):868-874.
Score: 0.005
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Association of Baseline Luminal Narrowing With Ileal Microbial Shifts and Gene Expression Programs and Subsequent Transmural Healing in Pediatric Crohn Disease. Inflamm Bowel Dis. 2021 10 20; 27(11):1707-1718.
Score: 0.005
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 Sep; 140(9):1299-1312.
Score: 0.005
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Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet. 2021 03 04; 108(3):431-445.
Score: 0.005
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Variation in Care in the Management of Children With Crohn's Disease: Data From a Multicenter Inception Cohort Study. Inflamm Bowel Dis. 2019 06 18; 25(7):1208-1217.
Score: 0.005
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Efficacy of Fecal Microbiota Transplantation for Clostridium difficile Infection in Children. Clin Gastroenterol Hepatol. 2020 03; 18(3):612-619.e1.
Score: 0.004
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Blood-Derived DNA Methylation Signatures of Crohn's Disease and Severity of Intestinal Inflammation. Gastroenterology. 2019 06; 156(8):2254-2265.e3.
Score: 0.004
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Prioritizing Crohn's disease genes by integrating association signals with gene expression implicates monocyte subsets. Genes Immun. 2019 09; 20(7):577-588.
Score: 0.004
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Fecal Microbiota Transplantation for Recurrent Clostridium difficile Infection and Other Conditions in Children: A Joint Position Paper From the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2019 01; 68(1):130-143.
Score: 0.004
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Age-of-diagnosis dependent ileal immune intensification and reduced alpha-defensin in older versus younger pediatric Crohn Disease patients despite already established dysbiosis. Mucosal Immunol. 2019 03; 12(2):491-502.
Score: 0.004
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The Effect of Early-Life Environmental Exposures on Disease Phenotype and Clinical Course of Crohn's Disease in Children. Am J Gastroenterol. 2018 10; 113(10):1524-1529.
Score: 0.004
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Proceedings of the 2017 ASPEN Research Workshop-Gastric Bypass: Role of the Gut. JPEN J Parenter Enteral Nutr. 2018 02; 42(2):279-295.
Score: 0.004
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Long ncRNA Landscape in the Ileum of Treatment-Naive Early-Onset Crohn Disease. Inflamm Bowel Dis. 2018 01 18; 24(2):346-360.
Score: 0.004
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Unique Inflammatory Bowel Disease Phenotype of Pediatric Primary Sclerosing Cholangitis: A Single-Center Study. J Pediatr Gastroenterol Nutr. 2017 10; 65(4):404-409.
Score: 0.004
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Roadmap for investigating epigenome deregulation and environmental origins of cancer. Int J Cancer. 2018 03 01; 142(5):874-882.
Score: 0.004
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Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease. Nat Genet. 2017 Oct; 49(10):1517-1521.
Score: 0.004
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Fundic Gland Polyps in the Pediatric Population: Clinical and Histopathologic Studies. Pediatr Dev Pathol. 2017 Nov-Dec; 20(6):482-489.
Score: 0.004
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Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study. Lancet. 2017 04 29; 389(10080):1710-1718.
Score: 0.004
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Mucosal Expression of Type 2 and Type 17 Immune Response Genes Distinguishes Ulcerative Colitis From Colon-Only Crohn's Disease in Treatment-Naive Pediatric Patients. Gastroenterology. 2017 05; 152(6):1345-1357.e7.
Score: 0.004
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Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease. Gastroenterology. 2017 01; 152(1):206-217.e2.
Score: 0.004
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Upper Endoscopic Diagnosis of a Jejunocolonic Fistula. J Pediatr Gastroenterol Nutr. 2016 07; 63(1):e14.
Score: 0.004
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Transfer of Viral Communities between Human Individuals during Fecal Microbiota Transplantation. mBio. 2016 Mar 29; 7(2):e00322.
Score: 0.004
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A Case of an 11-year-old With Cough, Diarrhea, and Findings of Concern in His Lungs and Spleen. Pediatrics. 2016 Mar; 137(3):e20150155.
Score: 0.004
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Evaluating the impact of infliximab use on surgical outcomes in pediatric Crohn's disease. J Pediatr Surg. 2016 May; 51(5):786-9.
Score: 0.004
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Microbiome-Epigenome Interactions and the Environmental Origins of Inflammatory Bowel Diseases. J Pediatr Gastroenterol Nutr. 2016 Feb; 62(2):208-19.
Score: 0.004
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Detecting Microbial Dysbiosis Associated with Pediatric Crohn Disease Despite the High Variability of the Gut Microbiota. Cell Rep. 2016 Feb 02; 14(4):945-955.
Score: 0.004
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DNA Methylation Profiling in Inflammatory Bowel Disease Provides New Insights into Disease Pathogenesis. J Crohns Colitis. 2016 Jan; 10(1):77-86.
Score: 0.003
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Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans. Gastroenterology. 2015 Nov; 149(6):1575-1586.
Score: 0.003
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Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping. PLoS One. 2015; 10(6):e0128074.
Score: 0.003
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.003
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Increased effectiveness of early therapy with anti-tumor necrosis factor-a vs an immunomodulator in children with Crohn's disease. Gastroenterology. 2014 Feb; 146(2):383-91.
Score: 0.003
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Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles. PLoS Genet. 2010 Dec 23; 6(12):e1001252.
Score: 0.003
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Changes of orexin A plasma levels in girls with anorexia nervosa during eight weeks of realimentation. Int J Eat Disord. 2011 Sep; 44(6):547-52.
Score: 0.002
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[Psychological aspects of presymptomatic diagnosis in Huntington disease]. Orv Hetil. 2008 Mar 30; 149(13):609-12.
Score: 0.002
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[Cutis marmorata telangiectatica congenita--case report]. Orv Hetil. 2007 Sep 09; 148(36):1717-20.
Score: 0.002
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Premenstrual exacerbation in calcium ATPase disorders of the skin. J Eur Acad Dermatol Venereol. 2007 Mar; 21(3):412-3.
Score: 0.002
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High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. Am J Med Genet A. 2006 Dec 15; 140(24):2816-8.
Score: 0.002
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Expanding the clinical spectrum of MYCN-related Feingold syndrome. Am J Med Genet A. 2006 Oct 15; 140(20):2254-6.
Score: 0.002
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Presenile cataract: consider cholestanol. Arch Ophthalmol. 2006 Oct; 124(10):1490-2.
Score: 0.002
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CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet. 2006 Sep; 70(3):246-9.
Score: 0.002
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Congenital chylothorax in Opitz G/BBB syndrome. Am J Med Genet A. 2006 May 15; 140(10):1119-21.
Score: 0.002
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A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J Hum Genet. 2006; 51(5):495-497.
Score: 0.002
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Vertebral defects in a patient with Feingold syndrome. Clin Dysmorphol. 2005 Oct; 14(4):213-214.
Score: 0.002
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A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep; 14(3):159-63.
Score: 0.002
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Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation. Pathol Oncol Res. 2005; 11(2):82-6.
Score: 0.002
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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol. 2005 May; 141(5):617-20.
Score: 0.002
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Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol. 2005 Mar-Apr; 15(2):75-9.
Score: 0.002
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Alpha-thalassemia/mental retardation syndrome in a 45,X male. Am J Med Genet A. 2005 Feb 01; 132A(4):431-3.
Score: 0.002