Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and ABCB4[original query] |
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| ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003 Aug 125 (2): 452-9. Rosmorduc Olivier, Hermelin Brigitte, Boelle Pierre-Yves, Parc Rolland, Taboury Jacques, Poupon Rao |
| Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004 Feb 14 (2): 91-102. Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, Zimmermann R, Kenngott S, Beuers U, Reichel C, Kerb R, Penger A, Meier PJ, Kullak-Ublick GA |
| Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis. Hepatology (Baltimore, Md.) 2008 Sep 48 (3): 853-62. Ohishi Yuki, Nakamura Minoru, Iio Naomi, Higa Shingo, Inayoshi Mao, Aiba Yoshihiro, Komori Atsumasa, Omagari Katsuhisa, Ishibashi Hiromi, Tsukamoto Kazuhi |
| ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008 Jul 135 (1): 131-41. Ziol Marianne, Barbu Véronique, Rosmorduc Olivier, Frassati-Biaggi Annonciade, Barget Nathalie, Hermelin Brigitte, Scheffer Georges L, Bennouna Selma, Trinchet Jean-Claude, Beaugrand Michel, Ganne-Carrié Nathal |
| ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver international : official journal of the International Association for the Study of the Liver 2009 May 29 (5): 743-7. Nakken Karl Esten, Labori Knut Jørgen, Rødningen Olaug K, Nakken Sigve, Berge Knut E, Eiklid Kristin, Raeder Morten |
| An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2009 Nov 41 (11): 817-22. Tomaiuolo R, Degiorgio D, Coviello D A, Baccarelli A, Elce A, Raia V, Motta V, Seia M, Castaldo G, Colombo |
| Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood. Folia biologica 2010 56 (1): 9-13. Bronský J, Jirsa M, Nevoral J, Hrebícek |
| Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. Journal of pediatric gastroenterology and nutrition 2011 Jan 52 (1): 73-83. Colombo Carla, Vajro Pietro, Degiorgio Dario, Coviello Domenico A, Costantino Lucy, Tornillo Luigi, Motta Valentina, Consonni Dario, Maggiore Giuseppe, |
| Genetic factors in the pathogenesis of cholangiocarcinoma. Digestive diseases (Basel, Switzerland) 2011 29 (1): 93-7. Wadsworth Christopher A, Dixon Peter H, Wong Jason H, Chapman Michael H, McKay Siobhan C, Sharif Amar, Spalding Duncan R, Pereira Stephen P, Thomas Howard C, Taylor-Robinson Simon D, Whittaker John, Williamson Catherine, Khan Shahid |
| Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis. Hepatology research : the official journal of the Japan Society of Hepatology 2015 Jun . Goldschmidt Monique L, Mourya Reena, Connor Jessica, Dexheimer Phillip, Karns Rebekah, Miethke Alexander, Sheridan Rachel, Zhang Kejian, Bezerra Jorge |
| Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases. BMC genetics 2015 16 15. Maci?g Anna, Villa Francesco, Ferrario Anna, Spinelli Chiara Carmela, Carrizzo Albino, Malovini Alberto, Torella Annalaura, Montenero Chiara, Parisi Attilio, Condorelli Gianluigi, Vecchione Carmine, Nigro Vincenzo, Montenero Annibale Sandro, Puca Annibale Alessand |
| Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population. American journal of translational research 2016 8 (2): 1218-27. Zhan Lei, Pan Yao-Zhen, Chen Ling, Zhang Hao, Zhang Hong, Song Jian, Tzeng Chi-Meng, Sun Cheng- |
| Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. Journal of hepatology 2017 12 67 (6): 1253-1264. Dröge Carola, Bonus Michele, Baumann Ulrich, Klindt Caroline, Lainka Elke, Kathemann Simone, Brinkert Florian, Grabhorn Enke, Pfister Eva-Doreen, Wenning Daniel, Fichtner Alexander, Gotthardt Daniel N, Weiss Karl Heinz, McKiernan Patrick, Puri Ratna Dua, Verma I C, Kluge Stefanie, Gohlke Holger, Schmitt Lutz, Kubitz Ralf, Häussinger Dieter, Keitel Vere |
| An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor. The pharmacogenomics journal 2019 Aug 19 (4): 390-400. Ravegnini Gloria, Urbini Milena, Simeon Vittorio, Genovese Chiara, Astolfi Annalisa, Nannini Margherita, Gatto Lidia, Saponara Maristella, Ianni Manuela, Indio Valentina, Brandi Giovanni, Trino Stefania, Hrelia Patrizia, Biasco Guido, Angelini Sabrina, Pantaleo Maria |
| ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. Seminars in liver disease 2018 10 38 (4): 299-307. Reichert Matthias Christian, Lammert Fra |
Identification and Replication of Six Loci Associated With Gallstone Disease.
Hepatology (Baltimore, Md.) 2018 Oct . Gellert-Kristensen Helene, Dalila Nawar, Fallgaard Nielsen Sune, Grønne Nordestgaard Børge, Tybjaerg-Hansen Anne, Stender Stef |
| Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy. BMC pregnancy and childbirth 2020 Sep 20 (1): 544. Liu Xianxian, Lai Hua, Zeng Xiaoming, Xin Siming, Nie Liju, Liang Zhenyi, Wu Meiling, Chen Yu, Zheng Jiusheng, Zou Ya |
| Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults. Digestive diseases (Basel, Switzerland) 2021 8 40 (4): 489-496. Jüngst Christoph, Justinger Christina, Fischer Janett, Berg Thomas, Lammert Fra |
| ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes. The Journal of pediatrics 2021 4 236 113-123.e2. Al-Hussaini Abdulrahman, Lone Khurram, Bashir Muhammed Salman, Alrashidi Sami, Fagih Mosa, Alanazi Alanoud, AlYaseen Salem, Almayouf Abdulaziz, Alruwaithi Muhanad, Asery A |
| Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans. American journal of human genetics 2021 Oct . Belbin Gillian M, Rutledge Stephanie, Dodatko Tetyana, Cullina Sinead, Turchin Michael C, Kohli Sumita, Torre Denis, Yee Muh-Ching, Gignoux Christopher R, Abul-Husn Noura S, Houten Sander M, Kenny Eimear |
| Germline Mutations in CIDEB and Protection against Liver Disease. The New England journal of medicine 2022 8 387 (4): 332-344. Verweij Niek, Haas Mary E, Nielsen Jonas B, Sosina Olukayode A, Kim Minhee, Akbari Parsa, De Tanima, Hindy George, Bovijn Jonas, Persaud Trikaldarshi, Miloscio Lawrence, Germino Mary, Panagis Lampros, Watanabe Kyoko, Mbatchou Joelle, Jones Marcus, LeBlanc Michelle, Balasubramanian Suganthi, Lammert Craig, Enhörning Sofia, Melander Olle, Carey David J, Still Christopher D, Mirshahi Tooraj, Rader Daniel J, Parasoglou Prodromos, Walls Johnathon R, Overton John D, Reid Jeffrey G, Economides Aris, Cantor Michael N, Zambrowicz Brian, Murphy Andrew J, Abecasis Goncalo R, Ferreira Manuel A R, Smagris Eriks, Gusarova Viktoria, Sleeman Mark, Yancopoulos George D, Marchini Jonathan, Kang Hyun M, Karalis Katia, Shuldiner Alan R, Della Gatta Giusy, Locke Adam E, Baras Aris, Lotta Luca |
| Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. Hepatology communications 2022 7 6 (10): 2654-2664. Nayagam Jeremy S, Foskett Pierre, Strautnieks Sandra, Agarwal Kosh, Miquel Rosa, Joshi Deepak, Thompson Richard |
| Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series. Liver international : official journal of the International Association for the Study of the Liver 2022 2 42 (4): 864-870. Pelusi Serena, Ronzoni Luisa, Malvestiti Francesco, Bianco Cristiana, Marini Ilaria, D'Ambrosio Roberta, Giannotta Juri Alessandro, Soardo Giorgio, Maggioni Marco, Prati Daniele, Valenti Lu |
| Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children. Liver international : official journal of the International Association for the Study of the Liver 2022 Feb . Krawczyk Marcin, Niewiadomska Olga, Jankowska Irena, Jankowski Krzysztof, Wi?ckowski Sebastian, Lebensztejn Dariusz, Wi?cek Sabina, Gozdowska Jolanta, Ku?aga Zbigniew, Weber Susanne N, Lütjohann Dieter, Lammert Frank, Socha Pio |
| Association of Drug-Metabolizing Enzyme and Transporter Gene Polymorphisms and Lipid-Lowering Response to Statins in Thai Patients with Dyslipidemia. Pharmacogenomics and personalized medicine 2022 15 119-130. Vanwong Natchaya, Tipnoppanon Sayanit, Na Nakorn Chalitpon, Srisawasdi Pornpen, Rodcharoen Punyanuch, Medhasi Sadeep, Chariyavilaskul Pajaree, Siwamogsatham Sarawut, Vorasettakarnkij Yongkasem, Sukasem Chonlaph |
| A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients. Orphanet journal of rare diseases 2022 11 17 (1): 419. Kruk Beata, Milkiewicz Malgorzata, Raszeja-Wyszomirska Joanna, Milkiewicz Piotr, Krawczyk Marc |
| A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome. JHEP reports : innovation in hepatology 2022 10 4 (11): 100590. Biyoukar Moustafa, Corpechot Christophe, El Mouhadi Sanaâ, Chambenois Edouard, Vanderbecq Quentin, Barbu Véronique, Dong Catherine, Lemoinne Sara, Tordjman Mickael, Jomaah Raphel, Chazouilleres Olivier, Arrivé Lion |
| Genetic issues in ICP. Obstetric medicine 2024 9 17 (3): 157-161. Julia Zöllner, Catherine Williamson, Peter H Dix |
| Pediatric Gallstone Disease - Management Difficulties In Clinical Practice. Gastroenterologia y hepatologia 2024 7 502228. Ana Losa, Gisela Silva, Sara Mosca, Berta Bonet, Helena Moreira Silva, Ermelinda Santos Sil |
- Page last reviewed:Feb 1, 2024
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