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Nov 28, 2008 (publication date) through Jan 29, 2025
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World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M. Johanson-Blizzard syndrome with mild phenotypic features confirmed by |
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| URL: | https://www.wjgnet.com/1007-9327/full/v14/i44/6863.htm |
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| 2 |
Yi Li, Shangbang Gao. Glutamate metabolism disruption in Johanson–Blizzard syndrome: Insights from C. elegans ubr-1 model. Journal of Biosciences 2024; 50(1) doi: 10.1007/s12038-024-00489-w
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Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy G. Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva-Lena Stattin, Jan Liebelt, Klaus-Michael Keller, Débora Romeo Bertola, Clara D.M. van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos A. Venegas-Vega, Nienke E. Verbeek, Erick J. Richmond, Özgür Kirbiyik, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad A. M. Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt, Martin Zenker. Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum. Human Mutation 2014; 35(5): 521 doi: 10.1002/humu.22538
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Da Eun Jeong, Hye Seon Lee, Bonsu Ku, Cheol-Hee Kim, Seung Jun Kim, Ho-Chul Shin. Insights into the recognition mechanism in the UBR box of UBR4 for its specific substrates. Communications Biology 2023; 6(1) doi: 10.1038/s42003-023-05602-7
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Shu Liu, Zhiqing Wang, Jianhui Jiang, Xianqiong Luo, Qingshan Hong, Ye Zhang, Haimei OuYang, Sisi Wei, Jinqun Liang, Nuan Chen, Weihong Zeng. Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics. Pancreatology 2020; 20(3): 562 doi: 10.1016/j.pan.2020.01.007
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Roberto Catanzaro, Biagio Cuffari, Angelo Italia, Francesco Marotta. Exploring the metabolic syndrome: Nonalcoholic fatty pancreas disease. World Journal of Gastroenterology 2016; 22(34): 7660-7675 doi: 10.3748/wjg.v22.i34.7660
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Danijela Jojkic-Pavkov, Jela Tosic, Ivana Kavecan, Milica Plazacic. Clinical manifestation of Johanson-Blizzard syndrome in patient with nucleotide variants in UBR1 gene. Vojnosanitetski pregled 2023; 80(10): 885 doi: 10.2298/VSP220803003J
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Christopher D. Jolley. Pancreatic Disease in Children and Adolescents. Current Gastroenterology Reports 2010; 12(2): 106 doi: 10.1007/s11894-010-0095-2
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Aiza Fatima Raza, Dilli Raj Paudel, Kavassery Venkateswaran Nisha. Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome. Journal of Audiology and Otology 2022; 26(3): 160 doi: 10.7874/jao.2021.00444
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Saransh Jain, Vijaya Kumar Narne. Emerging Trends in the Diagnosis and Intervention of Neurodevelopmental Disorders. Advances in Medical Technologies and Clinical Practice 2019; : 32 doi: 10.4018/978-1-5225-7004-2.ch002
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BP Santhosh, Preeti Jethmalani. Johanson-Blizzard Syndrome: Dental Findings and Management. The Journal of Contemporary Dental Practice 2013; 14(3): 544 doi: 10.5005/jp-journals-10024-1359
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Tawfik Khoury, Akwi W. Asombang, Tyler M. Berzin, Jonah Cohen, Douglas K. Pleskow, Meir Mizrahi. The Clinical Implications of Fatty Pancreas: A Concise Review. Digestive Diseases and Sciences 2017; 62(10): 2658 doi: 10.1007/s10620-017-4700-1
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Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker, Alfred Nordheim. Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome. PLoS ONE 2011; 6(9): e24925 doi: 10.1371/journal.pone.0024925
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Márcio S. Baptista, Carlos B. Duarte, Patrícia Maciel. Role of the ubiquitin–proteasome system in nervous system function and disease: using C. elegans as a dissecting tool. Cellular and Molecular Life Sciences 2012; 69(16): 2691 doi: 10.1007/s00018-012-0946-0
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Khalid Noli, Nabil Aleysae, Ismail Alzahrani, Ahmed Al‐Ghamdi, Mohammed Alkazmi, Ahmed Almasoudi. Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients. JPGN Reports 2024; 5(2): 140 doi: 10.1002/jpr3.12057
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Katharina Schoner, Barbara Fritz, Georg Huelskamp, Frank Louwen, Martin Zenker, Roland Moll, Helga Rehder. Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach. Pediatric and Developmental Pathology 2012; 15(1): 50 doi: 10.2350/11-04-1020-OA.1
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Curtis K. Deutsch, Tania Hreczko, Lewis B. Holmes. Quantitative assessment of craniofacial morphology in Johanson–Blizzard syndrome. Birth Defects Research Part A: Clinical and Molecular Teratology 2013; 97(3): 166 doi: 10.1002/bdra.23121
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| 20 |
Maja Sukalo, Julia Mayerle, Martin Zenker. Clinical utility gene card for: Johanson–Blizzard syndrome. European Journal of Human Genetics 2014; 22(1): 152 doi: 10.1038/ejhg.2013.65
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| 21 |
Hasan M Isa, Zainab A Khudhair, Kawthar M Abdulla, Zahra A Idrees, Maryam Y Busehail, Zainab A Jawad. Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review. Cureus 2024; doi: 10.7759/cureus.55969
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