Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: Cholestasis and ABCB4[original query] |
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Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug metabolism and disposition: the biological fate of chemicals 2006 Sep 34 (9): 1582-99. Lang Thomas, Haberl Michael, Jung Diana, Drescher Anja, Schlagenhaufer Robert, Keil Andrea, Mornhinweg Esther, Stieger Bruno, Kullak-Ublick Gerd A, Kerb Reinho |
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenetics and genomics 2007 Jan 17 (1): 47-60. Lang Carmen, Meier Yvonne, Stieger Bruno, Beuers Ulrich, Lang Thomas, Kerb Reinhold, Kullak-Ublick Gerd A, Meier Peter J, Pauli-Magnus Christia |
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2008 May 40 (5): 366-70. Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Montagnani M, Marchesoni D, Variola A, Rosa Rizzotto E, Braghin C, Mazzella |
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 |
Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World journal of gastroenterology : WJG 2008 Jan 14 (1): 38-45. Meier Yvonne, Zodan Tina, Lang Carmen, Zimmermann Roland, Kullak-Ublick Gerd A, Meier Peter J, Stieger Bruno, Pauli-Magnus Christia |
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. Journal of medical genetics 2009 Jul . Bacq Y, Gendrot C, Perrotin F, Lefrou L, Chrétien S, Vie-Buret V, Brechot MC, Andres C |
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2009 Sep 41 (9): 671-5. Tavian D, Degiorgio D, Roncaglia N, Vergani P, Cameroni I, Colombo R, Coviello D |
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 |
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. European journal of human genetics : EJHG 2012 Mar 20 (3): 277-82. Pasmant Eric, Goussard Philippe, Baranes Laetitia, Laurendeau Ingrid, Quentin Samuel, Ponsot Philippe, Consigny Yann, Farges Olivier, Condat Bertrand, Vidaud Dominique, Vidaud Michel, Chen Jian-Min, Parfait Béatri |
Chinese children with chronic intrahepatic cholestasis and high ?-glutamyl transpeptidase: clinical features and association with ABCB4 mutations. Journal of pediatric gastroenterology and nutrition 2012 Aug 55 (2): 150-6. Fang Ling-Juan, Wang Xiao-Hong, Knisely A S, Yu Hui, Lu Yi, Liu Li-Yan, Wang Jian-S |
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2013 Mar 45 (3): 226-32. Anzivino Claudia, Odoardi Maria Rosaria, Meschiari Erica, Baldelli Enrica, Facchinetti Fabio, Neri Isabella, Ruggiero Giuseppe, Zampino Rosa, Bertolotti Marco, Loria Paola, Carulli Luc |
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. Hepatology (Baltimore, Md.) 2013 Sep 58 (3): 1105-10. Poupon Raoul, Rosmorduc Olivier, Boëlle Pierre Yves, Chrétien Yves, Corpechot Christophe, Chazouillères Olivier, Housset Chantal, Barbu Véroniq |
A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. The American journal of gastroenterology 2014 Jan 109 (1): 76-84. Dixon Peter H, Wadsworth Christopher A, Chambers Jennifer, Donnelly Jennifer, Cooley Sharon, Buckley Rebecca, Mannino Ramona, Jarvis Sheba, Syngelaki Argyro, Geenes Victoria, Paul Priyadarshini, Sothinathan Meera, Kubitz Ralf, Lammert Frank, Tribe Rachel M, Ch'ng Chin Lye, Marschall Hanns-Ulrich, Glantz Anna, Khan Shahid A, Nicolaides Kypros, Whittaker John, Geary Michael, Williamson Catheri |
Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones. Molecular medicine reports 2015 Jan 11 (1): 434-46. Pan Shuguang, Li Xiaowu, Jiang Peng, Jiang Yan, Shuai Ling, He Yu, Li Zhih |
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 |
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2016 Apr 1-5. Fathy Mona, Kamal Manal, Al-Sharkawy Marwa, Al-Karaksy Hanaa, Hassan No |
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 |
The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy. Ginekologia polska 2018 89 (7): 393-397. Pi?tek Krzysztof, Kurzawi?ska Gra?yna, Magie?da Justyna, Drews Krzysztof, Barlik Magdalena, Malewski Zbyszko, O?arowski Marcin, Maciejewska Ma?gorzata, Seremak-Mrozikiewicz Agniesz |
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 |
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis. Journal of physiology and pharmacology : an official journal of the Polish Physiological Society 2020 9 71 (3): . Smyk W, Weber S N, Hall R, Gruenhage F, Lammert F, Krawczyk |
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 |
The role of genetic mutations in intrahepatic cholestasis of pregnancy. Taiwanese journal of obstetrics & gynecology 2020 Sep 59 (5): 706-710. Ayd?n Gültekin Adana?, Özgen Gülten, Görükmez Orh |
Contraceptive vaginal ring-induced cholestasis in a patient with a history of intrahepatic cholestasis of pregnancy. Clinics and research in hepatology and gastroenterology 2020 7 45 (4): 101475. Perrault Florence, Echelard Philippe, Viens Daniel, Borduas Mart |
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 |
Clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients at a tertiary care hospital in Rawalpindi, Pakistan. JPMA. The Journal of the Pakistan Medical Association 2021 Jun 71 (6): 1633-1638. Noor Nuzhat, Firasat Sabika, Bano Naheed, Afshan Kiran, Gul Bushra, Kaul Hai |
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 |
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 |
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 |
Genetic issues in ICP. Obstetric medicine 2024 9 17 (3): 157-161. Julia Zöllner, Catherine Williamson, Peter H Dix |
- Page last reviewed:Feb 1, 2024
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