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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 4
2004 3
2005 3
2006 3
2007 3
2008 8
2009 7
2010 10
2011 9
2012 6
2013 9
2014 13
2015 7
2016 11
2017 10
2018 7
2019 10
2020 14
2021 16
2022 10
2023 15
2024 5

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160 results

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Page 1
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: jacquemin e. Hepatology. 2023 Feb 1;77(2):512-529. doi: 10.1002/hep.32761. Epub 2022 Oct 13. Hepatology. 2023. PMID: 36036223 Free PMC article.
Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation.
Nault JC, Couchy G, Balabaud C, Morcrette G, Caruso S, Blanc JF, Bacq Y, Calderaro J, Paradis V, Ramos J, Scoazec JY, Gnemmi V, Sturm N, Guettier C, Fabre M, Savier E, Chiche L, Labrune P, Selves J, Wendum D, Pilati C, Laurent A, De Muret A, Le Bail B, Rebouissou S, Imbeaud S; GENTHEP Investigators; Bioulac-Sage P, Letouzé E, Zucman-Rossi J. Nault JC, et al. Gastroenterology. 2017 Mar;152(4):880-894.e6. doi: 10.1053/j.gastro.2016.11.042. Epub 2016 Dec 7. Gastroenterology. 2017. PMID: 27939373 Free article.
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.
Gonzales E, Hardikar W, Stormon M, Baker A, Hierro L, Gliwicz D, Lacaille F, Lachaux A, Sturm E, Setchell KDR, Kennedy C, Dorenbaum A, Steinmetz J, Desai NK, Wardle AJ, Garner W, Vig P, Jaecklin T, Sokal EM, Jacquemin E. Gonzales E, et al. Among authors: jacquemin e. Lancet. 2021 Oct 30;398(10311):1581-1592. doi: 10.1016/S0140-6736(21)01256-3. Epub 2021 Oct 28. Lancet. 2021. PMID: 34755627 Clinical Trial.
Molecular Regulation of Canalicular ABC Transporters.
Ben Saad A, Bruneau A, Mareux E, Lapalus M, Delaunay JL, Gonzales E, Jacquemin E, Aït-Slimane T, Falguières T. Ben Saad A, et al. Among authors: jacquemin e. Int J Mol Sci. 2021 Feb 20;22(4):2113. doi: 10.3390/ijms22042113. Int J Mol Sci. 2021. PMID: 33672718 Free PMC article. Review.
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal É, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, Dezsőfi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly DA, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, Önal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, Kamath BM; Global ALagille Alliance (GALA) Study Group. Hansen BE, et al. Among authors: jacquemin e. Hepatology. 2023 Dec 25. doi: 10.1097/HEP.0000000000000727. Online ahead of print. Hepatology. 2023. PMID: 38146932
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Felzen A, et al. Among authors: jacquemin e. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: jacquemin e. Hepatology. 2023 Nov 6. doi: 10.1097/HEP.0000000000000667. Online ahead of print. Hepatology. 2023. PMID: 37934624
160 results