A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
Tanner, M. Stuart, Sokal, Etienne, Strautnieks, Sandra S, Dahan, Karine, Pawlowska, Joanna, Dahl, Niklas, Freimer, Nelson B, Gardiner, R. Mark, Childs, Sarah, Kagalwalla, Amir F, Knisely, Alexander S, Thompson, Richard J, Ling, Victor, Németh, Antal, Baker, Alastair, Arnell, Henrik, Kocoshis, Samuel A, Mieli-Vergani, Giorgina, Bull, Laura N
Published in Nature genetics (01.11.1998)
Published in Nature genetics (01.11.1998)
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An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy
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Published in Scientific reports (18.09.2017)
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Challenges in understanding the consequences of variants in ABCB4 gene
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Published in Journal of hepatology (01.01.2021)
Published in Journal of hepatology (01.01.2021)
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ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants
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Published in Clinical gastroenterology and hepatology (01.05.2023)
Published in Clinical gastroenterology and hepatology (01.05.2023)
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Cholestasis Due to USP53 Deficiency
Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, Thompson, Richard J.
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
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Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease
Hegarty, Robert, Gurra, Olivia, Tarawally, Jenneh, Allouni, Sammi, Rahman, Obydur, Strautnieks, Sandra, Kyrana, Eirini, Hadzic, Nedim, Thompson, Richard J., Grammatikopoulos, Tassos
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Published in Journal of pediatric gastroenterology and nutrition (01.02.2024)
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Cirrhotic ascites masquerading as haemoperitoneum in paediatric trauma: The diagnostic dilemma
Lavigne, Jordan M, Thompson, Richard J, Short, Melissa
Published in Emergency medicine Australasia (01.12.2023)
Published in Emergency medicine Australasia (01.12.2023)
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Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology
Hegarty, Robert, Gibson, Philippa, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Ellard, Sian, Baptista, Julia, Lillis, Suzanne, Bansal, Sanjay, Vara, Roshni, Dhawan, Anil, Grammatikopoulos, Tassos, Thompson, Richard J.
Published in The Journal of pediatrics (01.09.2021)
Published in The Journal of pediatrics (01.09.2021)
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Hepatic Dry Copper Weight in Pediatric Autoimmune Liver Disease
Nayagam, Jeremy S., Joshi, Deepak, Thompson, Richard J., Dhawan, Anil, Hadzic, Nedim, Mestre‐Alagarda, Claudia, Deheragoda, Maesha, Samyn, Marianne
Published in Journal of pediatric gastroenterology and nutrition (01.02.2023)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2023)
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Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor
Sokol, Ronald J, Gonzales, Emmanuel M, Kamath, Binita M, Baker, Alastair, Vig, Pamela, Mogul, Douglas B, Garner, Will, Hansen, Bettina E, Jacquemin, Emmanuel, Thompson, Richard J
Published in Hepatology (Baltimore, Md.) (01.12.2023)
Published in Hepatology (Baltimore, Md.) (01.12.2023)
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Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism
Grammatikopoulos, Tassos, Deheragoda, Maesha, Strautnieks, Sandra, Neves Souza, Lara, Hinds, Rupert, Thompson, Richard J., Hadzic, Nedim
Published in The Journal of pediatrics (01.09.2018)
Published in The Journal of pediatrics (01.09.2018)
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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome
Berauer, John‐Paul, Mezina, Anya I., Okou, David T., Sabo, Aniko, Muzny, Donna M., Gibbs, Richard A., Hegde, Madhuri R., Chopra, Pankaj, Cutler, David J., Perlmutter, David H., Bull, Laura N., Thompson, Richard J., Loomes, Kathleen M., Spinner, Nancy B., Rajagopalan, Ramakrishnan, Guthery, Stephen L., Moore, Barry, Yandell, Mark, Harpavat, Sanjiv, Magee, John C., Kamath, Binita M., Molleston, Jean P., Bezerra, Jorge A., Murray, Karen F., Alonso, Estella M., Rosenthal, Philip, Squires, Robert H., Wang, Kasper S., Finegold, Milton J., Russo, Pierre, Sherker, Averell H., Sokol, Ronald J., Karpen, Saul J.
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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Mutations in Myosin 5B in Children With Early‐onset Cholestasis
Cockar, Iram, Foskett, Pierre, Strautnieks, Sandra, Clinch, Yasmin, Fustok, Jana, Rahman, Obydur, Sutton, Harry, Mtegha, Marumbo, Fessatou, Smaragdi, Kontaki, Elena, Papaevangelou, Vassiliki, Deheragoda, Maesha, Thompson, Richard J., Grammatikopoulos, Tassos
Published in Journal of pediatric gastroenterology and nutrition (01.08.2020)
Published in Journal of pediatric gastroenterology and nutrition (01.08.2020)
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