Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Progressive Familial Intrahepatic Cholestasis 1[original query] |
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ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005 Jun 54 (6): 829-34. Müllenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson S D, Williamson |
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. European journal of human genetics : EJHG 2005 1 13 (4): 435-9. Painter Jodie N, Savander Miia, Ropponen Anne, Nupponen Nina, Riikonen Seija, Ylikorkala Olavi, Lehesjoki Anna-Elina, Aittomäki Kristii |
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 |
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. The Journal of pediatrics 2008 Dec 153 (6): 825-32. Chen Huey-Ling, Liu Yu-Jung, Su Yi-Ning, Wang Nai-Yu, Wu Shang-Hsin, Ni Yen-Hsuan, Hsu Hong-Yuan, Wu Tzee-Chung, Chang Mei-Hw |
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, |
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 |
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. Molecular medicine reports 2014 Sep 10 (3): 1264-74. Hu Guorui, He Ping, Liu Zhifeng, Chen Qian, Zheng Bixia, Zhang Qih |
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 |
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. The Journal of pediatrics 2016 Feb . Togawa Takao, Sugiura Tokio, Ito Koichi, Endo Takeshi, Aoyama Kohei, Ohashi Kei, Negishi Yutaka, Kudo Toyoichiro, Ito Reiko, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Kure Shigeo, Saitoh Shin |
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. Journal of human genetics 2018 Mar . Imagawa Kazuo, Hayashi Hisamitsu, Sabu Yusuke, Tanikawa Ken, Fujishiro Jun, Kajikawa Daigo, Wada Hiroki, Kudo Toyoichiro, Kage Masayoshi, Kusuhara Hiroyuki, Sumazaki R |
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 |
Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing. The Journal of molecular diagnostics : JMD 2021 9 23 (11): 1491-1499. Yang Ye, Zhang Jing, Li Li-Ting, Qiu Yi-Ling, Gong Jing-Yu, Zhang Mei-Hong, Li Cai-Hua, Wang Jian-S |
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 |
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. Hepatology (Baltimore, Md.) 2021 3 74 (2): 892-906. van Wessel Daan B E, Thompson Richard J, Gonzales Emmanuel, Jankowska Irena, Shneider Benjamin L, Sokal Etienne, Grammatikopoulos Tassos, Kadaristiana Agustina, Jacquemin Emmanuel, Spraul Anne, Lipi?ski Patryk, Czubkowski Piotr, Rock Nathalie, Shagrani Mohammad, Broering Dieter, Algoufi Talal, Mazhar Nejat, Nicastro Emanuele, Kelly Deirdre, Nebbia Gabriella, Arnell Henrik, Fischler Björn, Hulscher Jan B F, Serranti Daniele, Arikan Cigdem, Debray Dominique, Lacaille Florence, Goncalves Cristina, Hierro Loreto, Muñoz Bartolo Gema, Mozer-Glassberg Yael, Azaz Amer, Brecelj Jernej, Dezs?fi Antal, Luigi Calvo Pier, Krebs-Schmitt Dorothee, Hartleif Steffen, van der Woerd Wendy L, Wang Jian-She, Li Li-Ting, Durmaz Özlem, Kerkar Nanda, Hørby Jørgensen Marianne, Fischer Ryan, Jimenez-Rivera Carolina, Alam Seema, Cananzi Mara, Laverdure Noémie, Targa Ferreira Cristina, Ordonez Felipe, Wang Heng, Sency Valerie, Mo Kim Kyung, Chen Huey-Ling, Carvalho Elisa, Fabre Alexandre, Quintero Bernabeu Jesus, Alonso Estella M, Sokol Ronald J, Suchy Frederick J, Loomes Kathleen M, McKiernan Patrick J, Rosenthal Philip, Turmelle Yumirle, Rao Girish S, Horslen Simon, Kamath Binita M, Rogalidou Maria, Karnsakul Wikrom W, Hansen Bettina, Verkade Henkjan J, |
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 |
Progressive Familial Intrahepatic Cholestasis: Need for Genetic Analysis Before Liver Transplantation. Journal of clinical and experimental hepatology 2022 5 12 (2): 686-688. Lal Bikrant B, Sood Vikrant, Jain Kavita, Bihari Chhagan, Khanna Rajeev, Alam See |
A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis. Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 2022 2 23 (1): 15-19. Selim Nora, Omair Heba, El-Karaksy Hanaa, Fathy Marianne, Mahmoud Enas, Baroudy Sherif, Fathy Mona, Yassin No |
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