Below are the most recent publications written about "Alagille Syndrome" by people in Profiles.
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Leung DH, Sorensen LG, Ye W, Hawthorne K, Ng VL, Loomes KM, Fredericks EM, Alonso EM, Heubi JE, Horslen SP, Karpen SJ, Molleston JP, Rosenthal P, Sokol RJ, Squires RH, Wang KS, Kamath BM, Magee JC. Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver. J Pediatr Gastroenterol Nutr. 2022 01 01; 74(1):96-103.
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Adams JM, Huppert KA, Castro EC, Lopez MF, Niknejad N, Subramanian S, Zarrin-Khameh N, Finegold MJ, Huppert SS, Jafar-Nejad H. Sox9 Is a Modifier of the Liver Disease Severity in a Mouse Model of Alagille Syndrome. Hepatology. 2020 04; 71(4):1331-1349.
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Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019 12; 40(12):2197-2220.
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Flores CD, Yu YR, Miloh TA, Goss J, Brandt ML. Surgical outcomes in Alagille syndrome and PFIC: A single institution's 20-year experience. J Pediatr Surg. 2018 May; 53(5):976-979.
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Adams JM, Jafar-Nejad H. A New Model of Alagille Syndrome With Broad Phenotypic Representation. Gastroenterology. 2018 03; 154(4):803-806.
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Kamath BM, Abetz-Webb L, Kennedy C, Hepburn B, Gauthier M, Johnson N, Medendorp S, Dorenbaum A, Todorova L, Shneider BL. Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis. Patient. 2018 02; 11(1):69-82.
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Pearson HJ, Mosser JL, Jacks SK. The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature. Pediatr Dermatol. 2017 Nov; 34(6):e305-e308.
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Grochowski CM, Loomes KM, Spinner NB. Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016 Jan 15; 576(1 Pt 3):381-4.
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Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A. 2016 Feb; 170A(2):471-475.
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Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Loomes KM, Heubi JE, Hertel PM, Scheenstra R, Furuya K, Kutsch E, Spinner NB, Robbins KN, Venkat V, Rosenthal P, Beyene J, Baker A, Kamath BM. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int. 2016 05; 36(5):755-60.