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Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium. Thiagarajah JR, et al. Among authors: goldsmith jd. Gastroenterology. 2018 Jun;154(8):2045-2059.e6. doi: 10.1053/j.gastro.2018.03.067. Epub 2018 Apr 12. Gastroenterology. 2018. PMID: 29654747 Free PMC article. Review.
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB. O'Connell AE, et al. Among authors: goldsmith jd. Am J Hum Genet. 2018 Jul 5;103(1):131-137. doi: 10.1016/j.ajhg.2018.05.007. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909964 Free PMC article.
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Zhang YJ, et al. Eur J Hum Genet. 2021 Jun;29(6):998-1007. doi: 10.1038/s41431-021-00812-1. Epub 2021 Feb 1. Eur J Hum Genet. 2021. PMID: 33526876 Free PMC article.
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
Dannheim K, Ouahed J, Field M, Snapper S, Raphael BP, Glover SC, Bishop PR, Bhesania N, Kamin D, Thiagarajah J, Goldsmith JD. Dannheim K, et al. Among authors: goldsmith jd. Am J Surg Pathol. 2022 Jun 1;46(6):846-853. doi: 10.1097/PAS.0000000000001856. Epub 2022 Jan 5. Am J Surg Pathol. 2022. PMID: 34985046 Free PMC article.
Factors Associated With Chronic Intestinal Inflammation Resembling Inflammatory Bowel Disease in Pediatric Intestinal Failure: A Matched Case-Control Study.
Culbreath K, Keefe G, Nes E, Staffa SJ, Carey AN, Jaksic T, Goldsmith JD, Modi BP, Ouahed JD, Jimenez L. Culbreath K, et al. Among authors: goldsmith jd. J Pediatr Gastroenterol Nutr. 2023 Apr 1;76(4):468-474. doi: 10.1097/MPG.0000000000003718. Epub 2023 Jan 31. J Pediatr Gastroenterol Nutr. 2023. PMID: 36720109
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
O'Connell AE, Raveenthiraraj S, Oliveira LFS, Adegboye C, Dasuri VS, Qi W, Khetani RS, Singh A, Sundaram N, Lin J, Nandivada P, Rincón-Cruz L, Goldsmith JD, Thiagarajah JR, Carlone DL, Turner JR, Agrawal PB, Helmrath M, Breault DT. O'Connell AE, et al. Among authors: goldsmith jd. Cell Mol Gastroenterol Hepatol. 2024 Apr 30:S2352-345X(24)00100-0. doi: 10.1016/j.jcmgh.2024.04.006. Online ahead of print. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38697357 Free article.
134 results