| For: | Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M. Johanson-Blizzard syndrome. World J Gastroenterol 2011; 17(37): 4247-4250 [PMID: 22072859 DOI: 10.3748/wjg.v17.i37.4247] |
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| URL: | https://www.wjgnet.com/1007-9327/full/v17/i37/4247.htm |
| Number | Citing Articles |
| 1 |
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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| 2 |
Shannon N. Nees, Wendy K. Chung. Genetic Basis of Human Congenital Heart Disease. Cold Spring Harbor Perspectives in Biology 2020; 12(9) doi: 10.1101/cshperspect.a036749
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| 3 |
Tracy R. Ediger, Steven H. Erdman. Pediatric Gastrointestinal and Liver Disease. 2021; doi: 10.1016/B978-0-323-67293-1.00031-1
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| 4 |
Ankur Singh, Neha Chaudhary, Dhulika Dhingra, Maja Sukalo, Martin Zenker, Seema Kapoor. Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype. Indian Journal of Gastroenterology 2014; 33(1) doi: 10.1007/s12664-013-0391-5
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| 5 |
Praveen S. Goday, Steven L. Werlin. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. 2016; doi: 10.1007/978-3-319-17169-2_39
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| 6 |
Senthilkumar Sankararaman, Teresa Schindler. Exocrine Pancreatic Insufficiency in Children – Challenges in Management. Pediatric Health, Medicine and Therapeutics 2023; doi: 10.2147/PHMT.S402589
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| 7 |
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| 8 |
Shannon N. Nees, Eric Jelin, Wendy K. Chung. Principles of Neonatology. 2024; doi: 10.1016/B978-0-323-69415-5.00078-3
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| 9 |
Maja Sukalo, Julia Mayerle, Martin Zenker. Clinical utility gene card for: Johanson–Blizzard syndrome. European Journal of Human Genetics 2014; 22(1) doi: 10.1038/ejhg.2013.65
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| 10 |
Malak Alshammari, Malak A Aljohani, Joud M Hashash, Hatim A Alsaedi, Waad Y Alobaidi, Nouf K Alhuzali, Mohammed S Alnumani, Asrar H Alrashidi, Sulaiman A Al-Battniji, Naif A Alotaibi, Nouran K Alhumaidi, Ahmed N Alajaimi, Rawabi S Alqurashi, Abdulrahman T Albishri, Khalid H Alshammari. Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice. Cureus 2021; doi: 10.7759/cureus.19391
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| 11 |
Meredith A. Williams, Ariadne Letra. The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. Genes 2018; 9(5) doi: 10.3390/genes9050255
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| 12 |
Saransh Jain, Vijaya Kumar Narne. Research Anthology on Pediatric and Adolescent Medicine. 2022; doi: 10.4018/978-1-6684-5360-5.ch014
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| 13 |
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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| 14 |
Piero Pavone, Silvana Briuglia, Raffaele Falsaperla, Amiel Warm, Vito Pavone, Laura Bernardini, Antonio Novelli, Andrea D. Praticò, Vincenzo Salpietro, Martino Ruggieri. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6‐Mb deletion of 13q12.11–13q12.13. American Journal of Medical Genetics Part A 2014; 164(7) doi: 10.1002/ajmg.a.36391
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| 15 |
Saransh Jain, Vijaya Kumar Narne. Emerging Trends in the Diagnosis and Intervention of Neurodevelopmental Disorders. Advances in Medical Technologies and Clinical Practice 2019; doi: 10.4018/978-1-5225-7004-2.ch002
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| 16 |
Salvatore Benvenga. When thyroid hormone replacement is ineffective?. Current Opinion in Endocrinology, Diabetes & Obesity 2013; 20(5) doi: 10.1097/MED.0000000000000003
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| 17 |
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) doi: 10.1002/humu.22538
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| 18 |
Nasreen Banu S., Naga Chaitanya Vinnakota, Lavanya Alluwada, Parijat Ram Tripathi.
Johanson–Blizzard’s Syndrome with a Novel Mutation in
UBR1
Gene
. Journal of Neonatology 2025; 39(3) doi: 10.1177/09732179241299957
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| 19 |
Mohamed O. Othman, Diala Harb, Jodie A. Barkin. Introduction and practical approach to exocrine pancreatic insufficiency for the practicing clinician. International Journal of Clinical Practice 2018; 72(2) doi: 10.1111/ijcp.13066
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| 20 |
Yanjin Qin, Danyang Xu, Yuxin Wu, Xiaoqi Zhou, Chenyu Song, Zhi Dong, Lujie Li, Meicheng Chen, Yanji Luo, Huasong Cai, Mimi Tang, Shi-Ting Feng. Vanishing pancreas: CT and MRI features and imaging diagnostic strategies. Insights into Imaging 2025; 16(1) doi: 10.1186/s13244-025-01998-4
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| 21 |
Inessa Normatov, Timothy Sentongo. Pancreatic Malnutrition in Children. Pediatric Annals 2019; 48(11) doi: 10.3928/19382359-20191018-01
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| 22 |
Amornluck Krasaelap, Steven L. Werlin, Praveen S. Goday. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. 2022; doi: 10.1007/978-3-030-80068-0_39
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| 23 |
John Nivar, Dennerd Ovando Jr., Joe Tran, Lawrence Chinn. Perioperative Care of the Adult Patient with Johanson-Blizzard Syndrome. Open Journal of Anesthesiology 2023; 13(10) doi: 10.4236/ojanes.2023.1310019
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| 24 |
Navya Paulson Mangali, Amal Antony, Nidhi Kumar. Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report. Pediatric Radiology 2024; 55(1) doi: 10.1007/s00247-024-06118-w
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| 25 |
Valentina Pucinischi, Giacomo Giarrusso, Giorgia Gallo, Giovanni Di Nardo, Silvia Furio, Marisa Piccirillo, Alessandro Ferretti, Pasquale Parisi, Margherita Bonamico, Francesco Valitutti, Maurizio Mennini. Enhancing pediatric practice: A comprehensive review on malabsorption in pediatrics for diagnostic and management approach. Nutrition 2025; 140 doi: 10.1016/j.nut.2025.112895
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| 26 |
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) doi: 10.7874/jao.2021.00444
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| 27 |
Shatha J Abukammas, Abobakr Abdelgalil, Mohamed Abdelmaksoud Shazly, Marwah M Alghanmi, Taqiyah Z Sheriff. Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review. Cureus 2026; doi: 10.7759/cureus.103579
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| 28 |
Hanaa Ktyman, Dana Chaker, Haya Ahmad, Hazem Kamil, Ali Ajlouni. Variable Expressivity in Johanson‐Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature. JGH Open 2025; 9(8) doi: 10.1002/jgh3.70236
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| 29 |
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) doi: 10.2298/VSP220803003J
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| 30 |
Vijay Mehta, Puanani E. Hopson, Yamen Smadi, Samit B. Patel, Karoly Horvath, Devendra I. Mehta. Development of the human pancreas and its exocrine function. Frontiers in Pediatrics 2022; 10 doi: 10.3389/fped.2022.909648
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| 31 |
Pascale Sabeh, Samantha A. Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Justine Rousseau, Matthew Lines, Andrea Guerin, John J. Millichap, Megan Landsverk, Theresa Grebe, Kristin Lindstrom, Jonathan Strober, Tarik Ait Mouhoub, Christiane Zweier, Michelle Steinraths, Moritz Hebebrand, Bert Callewaert, Rami Abou Jamra, Monika Kautza-Lucht, Meret Wegler, Paul Kruszka, Candy Kumps, Ehud Banne, Marta Biderman Waberski, Anne Dieux, Sarah Raible, Ian Krantz, Livija Medne, Kieran Pechter, Laurent Villard, Renzo Guerrini, Claudia Bianchini, Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay, Emmanuelle Ranza, Xiao-Ru Yang, Emily O'Heir, Kirsten A. Donald, Serini Murugasen, Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews, Marion Lesieur-Sebellin, Geneviève Baujat, Nicolas Derive, Tyler Mark Pierson, Jill R. Murrell, Amelle Shillington, Clothilde Ormieres, Sophie Rondeau, André Reis, Alberto Fernandez-Jaen, Ping Yee Billie Au, David A. Sweetser, Lauren C. Briere, Nathalie Couque, Laurence Perrin, Jennifer Schymick, Paul Gueguen, Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. The American Journal of Human Genetics 2025; 112(1) doi: 10.1016/j.ajhg.2024.11.009
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