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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]
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 modelJournal of Biosciences 2024; 50(1) doi: 10.1007/s12038-024-00489-w
2
Shannon N. Nees, Wendy K. Chung. Genetic Basis of Human Congenital Heart DiseaseCold Spring Harbor Perspectives in Biology 2020; 12(9): a036749 doi: 10.1101/cshperspect.a036749
3
Tracy R. Ediger, Steven H. Erdman. Pediatric Gastrointestinal and Liver Disease2021; : 321 doi: 10.1016/B978-0-323-67293-1.00031-1
4
Ankur Singh, Neha Chaudhary, Dhulika Dhingra, Maja Sukalo, Martin Zenker, Seema Kapoor. Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotypeIndian Journal of Gastroenterology 2014; 33(1): 82 doi: 10.1007/s12664-013-0391-5
5
Praveen S. Goday, Steven L. Werlin. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition2016; : 445 doi: 10.1007/978-3-319-17169-2_39
6
Senthilkumar Sankararaman, Teresa Schindler. Exocrine Pancreatic Insufficiency in Children – Challenges in ManagementPediatric Health, Medicine and Therapeutics 2023; : 361 doi: 10.2147/PHMT.S402589
7
Shannon N. Nees, Eric Jelin, Wendy K. Chung. Principles of Neonatology2024; : 677 doi: 10.1016/B978-0-323-69415-5.00078-3
8
Maja Sukalo, Julia Mayerle, Martin Zenker. Clinical utility gene card for: Johanson–Blizzard syndromeEuropean Journal of Human Genetics 2014; 22(1): 152 doi: 10.1038/ejhg.2013.65
9
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 PracticeCureus 2021;  doi: 10.7759/cureus.19391
10
Meredith A. Williams, Ariadne Letra. The Changing Landscape in the Genetic Etiology of Human Tooth AgenesisGenes 2018; 9(5): 255 doi: 10.3390/genes9050255
11
Saransh Jain, Vijaya Kumar Narne. Research Anthology on Pediatric and Adolescent Medicine2022; : 235 doi: 10.4018/978-1-6684-5360-5.ch014
12
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 ReviewCureus 2024;  doi: 10.7759/cureus.55969
13
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 13q12.11–13q12.13American Journal of Medical Genetics Part A 2014; 164(7): 1734 doi: 10.1002/ajmg.a.36391
14
Saransh Jain, Vijaya Kumar Narne. Emerging Trends in the Diagnosis and Intervention of Neurodevelopmental DisordersAdvances in Medical Technologies and Clinical Practice 2019; : 32 doi: 10.4018/978-1-5225-7004-2.ch002
15
Salvatore Benvenga. When thyroid hormone replacement is ineffective?Current Opinion in Endocrinology, Diabetes & Obesity 2013; 20(5): 467 doi: 10.1097/MED.0000000000000003
16
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 SpectrumHuman Mutation 2014; 35(5): 521 doi: 10.1002/humu.22538
17
Nasreen Banu S., Naga Chaitanya Vinnakota, Lavanya Alluwada, Parijat Ram Tripathi. Case Report: Johanson–Blizzard’s Syndrome with a Novel Mutation in UBR1 GeneJournal of Neonatology 2024;  doi: 10.1177/09732179241299957
18
Mohamed O. Othman, Diala Harb, Jodie A. Barkin. Introduction and practical approach to exocrine pancreatic insufficiency for the practicing clinicianInternational Journal of Clinical Practice 2018; 72(2): e13066 doi: 10.1111/ijcp.13066
19
Inessa Normatov, Timothy Sentongo. Pancreatic Malnutrition in ChildrenPediatric Annals 2019; 48(11) doi: 10.3928/19382359-20191018-01
20
Amornluck Krasaelap, Steven L. Werlin, Praveen S. Goday. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition2022; : 513 doi: 10.1007/978-3-030-80068-0_39
21
Navya Paulson Mangali, Amal Antony, Nidhi Kumar. Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case reportPediatric Radiology 2024;  doi: 10.1007/s00247-024-06118-w
22
Aiza Fatima Raza, Dilli Raj Paudel, Kavassery Venkateswaran Nisha. Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard SyndromeJournal of Audiology and Otology 2022; 26(3): 160 doi: 10.7874/jao.2021.00444
23
Danijela Jojkic-Pavkov, Jela Tosic, Ivana Kavecan, Milica Plazacic. Clinical manifestation of Johanson-Blizzard syndrome in patient with nucleotide variants in UBR1 geneVojnosanitetski pregled 2023; 80(10): 885 doi: 10.2298/VSP220803003J
24
Vijay Mehta, Puanani E. Hopson, Yamen Smadi, Samit B. Patel, Karoly Horvath, Devendra I. Mehta. Development of the human pancreas and its exocrine functionFrontiers in Pediatrics 2022; 10 doi: 10.3389/fped.2022.909648
25
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 disabilityThe American Journal of Human Genetics 2024;  doi: 10.1016/j.ajhg.2024.11.009