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205 results

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Page 1
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P. Cullinane AR, et al. Among authors: fischler b. Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900. Hum Mutat. 2009. PMID: 18853461 Free PMC article.
Clinical and molecular genetic features of ARC syndrome.
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Among authors: fischler b. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ. Knisely AS, et al. Among authors: fischler b. Hepatology. 2006 Aug;44(2):478-86. doi: 10.1002/hep.21287. Hepatology. 2006. PMID: 16871584
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Strautnieks SS, et al. Among authors: fischler b. Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18. Gastroenterology. 2008. PMID: 18395098 Free article.
Comparison of Recommendations for Treatment of Chronic Hepatitis C Virus Infection in Children and Adolescents: A Position Paper of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.
Indolfi G, Fischler B, Gonzalez-Peralta RP, Ciocca M, Porta G, Neelam M, El-Guindi M, Kelly D, Ni YH, Sibal A, Leung DH, Chang MH; Hepatitis Expert Team of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition (FISPGHAN). Indolfi G, et al. Among authors: fischler b. J Pediatr Gastroenterol Nutr. 2020 May;70(5):711-717. doi: 10.1097/MPG.0000000000002710. J Pediatr Gastroenterol Nutr. 2020. PMID: 32205770
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM; Global ALagille Alliance (GALA) Study Group. Vandriel SM, et al. Among authors: fischler b. Hepatology. 2023 Feb 1;77(2):512-529. doi: 10.1002/hep.32761. Epub 2022 Oct 13. Hepatology. 2023. PMID: 36036223 Free PMC article.
Liver biopsy in children: position paper of the ESPGHAN Hepatology Committee.
Dezsőfi A, Baumann U, Dhawan A, Durmaz O, Fischler B, Hadzic N, Hierro L, Lacaille F, McLin VA, Nobili V, Socha P, Vajro P, Knisely AS; ESPGHAN Hepatology Committee. Dezsőfi A, et al. Among authors: fischler b. J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):408-20. doi: 10.1097/MPG.0000000000000632. J Pediatr Gastroenterol Nutr. 2015. PMID: 25383787 Review.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Pawlikowska L, et al. Among authors: fischler b. J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13. J Hepatol. 2010. PMID: 20447715 Free PMC article.
Early and Late Factors Impacting Patient and Graft Outcome in Pediatric Liver Transplantation: Summary of an ESPGHAN Monothematic Conference.
McLin VA, Allen U, Boyer O, Bucuvalas J, Colledan M, Cuturi MC, d'Antiga L, Debray D, Dezsofi A, Goyet JV, Dhawan A, Durmaz O, Falk C, Feng S, Fischler B, Franchi-Abella S, Frauca E, Ganschow R, Gottschalk S, Hadzic N, Hierro L, Horslen S, Hubscher S, Karam V, Kelly D, Maecker-Kolhoff B, Mazariegos G, McKiernan P, Melk A, Nobili V, Ozgenç F, Reding R, Sciveres M, Sharif K, Socha P, Toso C, Vajro P, Verma A, Wildhaber BE, Baumann U. McLin VA, et al. Among authors: fischler b. J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e53-e59. doi: 10.1097/MPG.0000000000001564. J Pediatr Gastroenterol Nutr. 2017. PMID: 28319600
205 results