Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 131 Records) |
| Query Trace: Pancreatitis and CFTR[original query] |
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| Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2019 5 19 (4): 535-540. Abu-El-Haija Maisam, Valencia C Alexander, Hornung Lindsey, Youssef Nour, Thompson Tyler, Barasa Nathaniel W, Wang Xinjian, Denson Lee |
| Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis. World journal of clinical cases 2019 12 7 (22): 3757-3764. Caldrer Sara, Bergamini Gabriella, Sandri Angela, Vercellone Silvia, Rodella Luca, Cerofolini Angelo, Tomba Francesco, Catalano Filippo, Frulloni Luca, Buffelli Mario, Tridello Gloria, de Jonge Hugo, Assael Baroukh Maurice, Sorio Claudio, Melotti Pao |
| Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings. Pediatric pulmonology 2020 8 55 (11): 3021-3029. Shen Yuelin, Tang Xiaolei, Liu Jinrong, Li Huiming, Zhao Shunyi |
| A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland. HPB : the official journal of the International Hepato Pancreato Biliary Association 2020 Jul . Ní Chonchubhair Hazel M, Duggan Sinead N, Egan Suzanne M, Kenyon Marcus, O'Toole Dermot, McManus Ross, Conlon Kevin |
| Complex Genetics in Pancreatitis: Insights Gained From a New Candidate Locus Panel. Pancreas 2020 7 49 (7): 983-998. Ellison Mitchell A, Spagnolo Daniel M, Shelton Celeste, Orlova Ekatarina, LaRusch Jessica, Whitcomb David C, Haupt Ma |
| IVS8-5T Allele of CFTR is the Risk Factor in Chronic Pancreatitis, Especially in Idiopathic Chronic Pancreatitis. The American journal of the medical sciences 2020 5 360 (1): 55-63. Jiang Min, Li Zhouquan, Fu Shien, Xu Yanzhen, Tan Yanjun, Jia Wenxian, Jiang Zhiwen, Mo Nanfang, Wei Xinyan, Zhang Ruoheng, Zhang Zaiping, Jiang Guangjian, Yang Xiao |
| Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. The European respiratory journal 2020 5 56 (3): . Çolak Yunus, Nordestgaard Børge G, Afzal Shoa |
| Imaging of genetically-mediated pancreatitis. Clinical imaging 2020 5 65 113-118. O'Brien Ciara M, O'Brien Amy C, Gleeson Laura, Conlon Kevin, Feeney John, Malone Dermot |
| A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. EBioMedicine 2020 3 53 102675. Earl Julie, Galindo-Pumariño Cristina, Encinas Jessica, Barreto Emma, Castillo Maria E, Pachón Vanessa, Ferreiro Reyes, Rodríguez-Garrote Mercedes, González-Martínez Silvia, Ramon Y Cajal Teresa, Diaz Luis Robles, Chirivella-Gonzalez Isabel, Rodriguez Montse, de Castro Eva Martínez, García-Seisdedos David, Muñoz Gloria, Rosa Juan Manuel Rosa, Marquez Mirari, Malats Nuría, Carrato Alfre |
| Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis. Digestive diseases and sciences 2020 1 65 (10): 3000-3005. Nabi Zaheer, Talukdar Rupjyoti, Venkata Ravikanth, Aslam Mohsin, Shava Upender, Reddy D Nageshw |
| The Cystic Fibrosis Transmembrane Conductance Regulator 470 Met Allele Is Associated with an Increased Risk of Chronic Pancreatitis in Both Asian and Caucasian Populations: A Meta-Analysis. Genetic testing and molecular biomarkers 2020 1 24 (1): 24-32. Zhou Donger, Bai Rui, Wang Lia |
| The Impacts of Genetic and Environmental Factors on the Progression of Chronic Pancreatitis. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2021 8 20 (6): e1378-e1387. Ru Nan, Xu Xiao-Nan, Cao Yu, Zhu Jia-Hui, Hu Liang-Hao, Wu Sheng-Yong, Qian Yang-Yang, Pan Jun, Zou Wen-Bin, Li Zhao-Shen, Liao Zhu |
| Comparison of idiopathic recurrent acute pancreatitis [IRAP] and recurrent acute pancreatitis with genetic mutations. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2021 May . Cruz Luisa M, Kwon Joshua Y, Oman Sven P, Zaver Himesh, Bolaños Gabriel A, Kröner Paul T, Raimondo Massimo, Bi Yan, Lukens Frank J, Corral Juan |
| Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Human mutation 2021 12 43 (2): 228-239. Hamada Shin, Masson Emmanuelle, Chen Jian-Min, Sakaguchi Reiko, Rebours Vinciane, Buscail Louis, Matsumoto Ryotaro, Tanaka Yu, Kikuta Kazuhiro, Kataoka Fumiya, Sasaki Akira, Le Rhun Marc, Audin Hela, Lachaux Alain, Caumont Bernard, Lorenzo Diane, Billiemaz Kareen, Besnard Raphael, Koch Stéphane, Lamireau Thierry, De Koninck Xavier, , Génin Emmanuelle, Cooper David N, Mori Yasuo, Masamune Atsushi, Férec Clau |
| Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer? Journal of gastrointestinal cancer 2021 11 . Enjuto Diego T, Herrera Norberto, J Ceinos Carmen, Ramos Bonilla Antonio, Llorente-Lázaro Rosa, González Guerreiro Judit, Castro-Carbajo Pil |
| Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia. Journal of clinical medicine 2021 Oct 10 (21): . Bartram Thies, Schütte Peter, Möricke Anja, Houlston Richard S, Ellinghaus Eva, Zimmermann Martin, Bergmann Anke, Löscher Britt-Sabina, Klein Norman, Hinze Laura, Junk Stefanie V, Forster Michael, Bartram Claus R, Köhler Rolf, Franke Andre, Schrappe Martin, Kratz Christian P, Cario Gunnar, Stanulla Mart |
| Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis. Endocrine journal 2022 4 69 (9): 1101-1108. Fujita Shingo, Nishizawa Hitoshi, Miyashita Yohei, Imada Tasuku, Yamaguchi Takashi, Murano Takeyoshi, Bujo Hideaki, Asano Yoshihiro, Kozawa Junji, Maeda Norikazu, Shimomura Iichi |
| High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification. HGG advances 2022 11 4 (1): 100156. Mastromatteo Scott, Chen Angela, Gong Jiafen, Lin Fan, Thiruvahindrapuram Bhooma, Sung Wilson W L, Whitney Joe, Wang Zhuozhi, Patel Rohan V, Keenan Katherine, Halevy Anat, Panjwani Naim, Avolio Julie, Wang Cheng, Côté-Maurais Guillaume, Bégin Stéphanie, Adam Damien, Brochiero Emmanuelle, Bjornson Candice, Chilvers Mark, Price April, Parkins Michael, van Wylick Richard, Mateos-Corral Dimas, Hughes Daniel, Smith Mary Jane, Morrison Nancy, Tullis Elizabeth, Stephenson Anne L, Wilcox Pearce, Quon Bradley S, Leung Winnie M, Solomon Melinda, Sun Lei, Ratjen Felix, Strug Lisa |
| Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis. PloS one 2022 17 (10): e0276397. Berke Gerg?, Gede Noémi, Szadai Letícia, Ocskay Klementina, Hegyi Péter, Sahin-Tóth Miklós, Hegyi Eszt |
| Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023 8 . Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, Muhammad Nadeem Anjum, Sadaqat Ijaz, Muhammad Arshad Alvi, Syeda Sara L Bat |
| Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia. Sovremennye tekhnologii v meditsine 2023 6 15 (2): 60-70. M M Litvinova, K F Khafizov, A S Speranskaya, A D Matsvay, A Yu Asanov, K A Nikolskaya, L V Vinokurova, E A Dubtsova, M G Ipatova, T F Mukhina, M A Karnaushkina, D S Bord |
| Chronic Pancreatitis Associated With a Variant of CFTR Gene Treated With Total Pancreatectomy and Autologous Islet Cell Transplantation. AACE clinical case reports 2023 5 9 (3): 93-96. Shubham Agarwal, Ildiko Lingvay, Sasan Mirfakhraee, Raksha Ja |
| [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis]. Voprosy pitaniia 2023 3 92 (1): 85-91. Samgina T |
| Association of glycated hemoglobin with risk of pancreatic cancer in high-risk individuals based on genetic and family history. Clinical and translational gastroenterology 2023 10 . Bechien U Wu, Qiaoling Chen, Becky H Moon, Eva Lustigova, Erin G Nielsen, Monica Alvarado, Syed A Ahm |
| Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023 10 . Hasan Ba?, Selçuk Di?ibeyaz, Erkin Özta?, Yusuf Aydemir, Tuncer Temel, O?uz Çilingir, Beyhan Durak Aras, Sevilhan Art |
| The coexistence of TRPV6 variants with other pancreatitis-associated genes affects pediatric-onset pancreatitis. Journal of pediatric gastroenterology and nutrition 2023 1 . Hirai Saeko, Suzuki Mitsuyoshi, Sakurai Yumiko, Nakano Satoshi, Minowa Kei, Eguchi Hidetake, Okazaki Yasushi, Shimizu Toshia |
| Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation. Journal of the Endocrine Society 2023 1 7 (3): bvac182. Son Rachel G, Kandasamy Balamurugan, Bowden Tiana, Azzam Ruba K, Oakes Scott A, Philipson Louis H, Greeley Siri Atma |
| A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis. Biomedicines 2024 6 12 (6): . Piera Bontempo, Cecilia Surace, Lucia Menale, Claudia Alicata, Gemma D'Elia, Anna Cristina Tomaiuolo, Daniele Minervino, Elisa Lorefice, Antonio Novel |
| The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2024 6 . Maisam Abu-El-Haija, Wenying Zhang, Rebekah Karns, Gila Ginzburg, David S Vitale, Peter Farrell, Alexander Nasr, Sherif Ibrahim, Melena D Bellin, Tyler Thompson, Vineet Garlapally, Jessica G Woo, Sohail Z Husain, Lee A Dens |
| Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis. Clinics and research in hepatology and gastroenterology 2024 4 48 (6): 102346. Solène Dermine, Emmanuelle Masson, Emmanuelle Girodon-Boulandet, Thierry Bienvenu, Claude Férec, Philippe Lévy, Vinciane Rebou |
- Page last reviewed:Feb 1, 2024
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