Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years
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N. Sebire | H. Uhlig | C. Bacchelli | S. Drury | K. Gilmour | M. Gasparetto | M. Elawad | J. Kammermeier | C. James | R. Dziubak | F. Kiparissi | K. Reeve | H. Godwin | N. Shah | P. Beales | E. Cernat | S. Chadokufa | M. Pescarin | B. Huggett | S. Sider | N. Acton | G. Noble-Jamieson
[1] H. Uhlig,et al. From Genes to Mechanisms: The Expanding Spectrum of Monogenic Disorders Associated with Inflammatory Bowel Disease , 2016, Inflammatory bowel diseases.
[2] Y. Lau,et al. Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency , 2015, Clinical genetics.
[3] A. Deutschmann,et al. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency , 2015, The Journal of allergy and clinical immunology.
[4] David C. Wilson,et al. Faecal Calprotectin in Suspected Paediatric Inflammatory Bowel Disease , 2015, Journal of pediatric gastroenterology and nutrition.
[5] Toshiro K. Ohsumi,et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. , 2015, The Journal of allergy and clinical immunology.
[6] F. Rieux-Laucat,et al. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. , 2014, The Journal of allergy and clinical immunology.
[7] C. Klein,et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. , 2014, Gastroenterology.
[8] P. Beales,et al. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis , 2014, Journal of Medical Genetics.
[9] Y. Crow,et al. The SKIV2L RNA exosome limits activation of the RIG-I-like receptors , 2014, Nature Immunology.
[10] P. Henderson,et al. The Diagnostic Accuracy of Fecal Calprotectin During the Investigation of Suspected Pediatric Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis , 2014, The American Journal of Gastroenterology.
[11] E. Schadt,et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. , 2014, Gastroenterology.
[12] E. Miele,et al. Phenotype and Disease Course of Early-onset Pediatric Inflammatory Bowel Disease , 2014, Inflammatory bowel diseases.
[13] A. Gennery,et al. Allogeneic Stem Cell Transplant Offers Cure for Intractable Childhood Enteropathy , 2014 .
[14] J. Ruel,et al. IBD across the age spectrum—is it the same disease? , 2014, Nature Reviews Gastroenterology &Hepatology.
[15] T. Kutlu,et al. Can Fecal Calprotectin Level Be Used as a Markers of Inflammation in the Diagnosis and Follow-Up of Cow's Milk Protein Allergy? , 2013, Allergy, asthma & immunology research.
[16] G. Veres,et al. ESPGHAN Revised Porto Criteria for the Diagnosis of Inflammatory Bowel Disease in Children and Adolescents , 2013, Journal of pediatric gastroenterology and nutrition.
[17] S. Ehl,et al. XIAP deficiency is a mendelian cause of late-onset IBD , 2013, Gut.
[18] H. Uhlig. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease , 2013, Gut.
[19] Michael P. Snyder,et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. , 2013, The Journal of allergy and clinical immunology.
[20] J. Yim,et al. Immune deficiencies, infection, and systemic immune disordersDominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome , 2013 .
[21] B. Hartmann,et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. , 2013, The Journal of allergy and clinical immunology.
[22] A. Fischer,et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. , 2013, Blood.
[23] J. Gerada. Mucosal Inflammation as a Component of Tufting Enteropathy , 2013 .
[24] S. Snapper,et al. The age of gene discovery in very early onset inflammatory bowel disease. , 2012, Gastroenterology.
[25] R. Geha,et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. , 2012, The Journal of allergy and clinical immunology.
[26] R. Bacchetta,et al. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity , 2012, Front. Immun..
[27] J. Sarles,et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. , 2012, American journal of human genetics.
[28] J. Lindsay,et al. Prevalence and management of anemia in children, adolescents, and adults with inflammatory bowel disease , 2012, Inflammatory bowel diseases.
[29] C. Edwards,et al. The aetiology and impact of malnutrition in paediatric inflammatory bowel disease. , 2011, Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.
[30] David C Wilson,et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: The Paris classification , 2011, Inflammatory bowel diseases.
[31] V. Moeeni,et al. Impact of Inflammatory Bowel Disease upon Growth in Children and Adolescents , 2011, ISRN pediatrics.
[32] David P Bick,et al. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease , 2011, Genetics in Medicine.
[33] A. Griffiths,et al. Epidemiology of pediatric inflammatory bowel disease: A systematic review of international trends , 2011, Inflammatory bowel diseases.
[34] T. Torgerson,et al. The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. , 2010, Journal of autoimmunity.
[35] N. Sebire,et al. Infant colitis—it's in the genes , 2010, The Lancet.
[36] A. Griffiths,et al. Factors that determine risk for surgery in pediatric patients with Crohn's disease. , 2010, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[37] D. Chitayat,et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). , 2010, Gastroenterology.
[38] H. Uhlig,et al. Frequency of indeterminate colitis in children and adults with IBD - a metaanalysis. , 2009, Journal of Crohn's & colitis.
[39] A. Schäffer,et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. , 2009, The New England journal of medicine.
[40] A. Ventura,et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age , 2009, European Journal of Pediatrics.
[41] David C Wilson,et al. Definition of phenotypic characteristics of childhood-onset inflammatory bowel disease. , 2008, Gastroenterology.
[42] N. Brousse,et al. Orphanet Journal of Rare Diseases BioMed Central Review Neonatal diabetes mellitus: a disease linked to multiple , 2007 .
[43] A. Caudy,et al. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. , 2007, The Journal of allergy and clinical immunology.
[44] O. Goulet,et al. Characteristics of Inflammatory Bowel Disease With Onset During the First Year of Life , 2006, Journal of pediatric gastroenterology and nutrition.
[45] Richard E Thompson,et al. Indeterminate colitis: A significant subgroup of pediatric IBD , 2006, Inflammatory bowel diseases.
[46] M. Moss. Gastrointestinal Involvement in Chronic Granulomatous Disease , 2005, Pediatrics.
[47] P. Milla,et al. Long-Term Outcome of Intractable Ulcerating Enterocolitis of Infancy , 2005, Journal of pediatric gastroenterology and nutrition.
[48] B. Sandhu,et al. Presenting features of inflammatory bowel disease in Great Britain and Ireland , 2003, Archives of disease in childhood.
[49] D. Goldblatt,et al. Colitis in chronic granulomatous disease , 2001, Archives of disease in childhood.
[50] H. Ochs,et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 , 2001, Nature Genetics.
[51] D. J. Unsworth,et al. Autoimmunity in diarrhoeal disease. , 1985, Journal of pediatric gastroenterology and nutrition.
[52] A. Matheson,et al. Gastrointestinal food allergy in infants. , 1962, Pediatrics.