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): a036749 doi: 10.1101/cshperspect.a036749
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3 |
Tracy R. Ediger, Steven H. Erdman. Pediatric Gastrointestinal and Liver Disease. 2021; : 321 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): 82 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; : 445 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; : 361 doi: 10.2147/PHMT.S402589
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7 |
Shannon N. Nees, Eric Jelin, Wendy K. Chung. Principles of Neonatology. 2024; : 677 doi: 10.1016/B978-0-323-69415-5.00078-3
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8 |
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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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 Practice. Cureus 2021; doi: 10.7759/cureus.19391
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10 |
Meredith A. Williams, Ariadne Letra. The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. Genes 2018; 9(5): 255 doi: 10.3390/genes9050255
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11 |
Saransh Jain, Vijaya Kumar Narne. Research Anthology on Pediatric and Adolescent Medicine. 2022; : 235 doi: 10.4018/978-1-6684-5360-5.ch014
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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 Review. Cureus 2024; doi: 10.7759/cureus.55969
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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 13q12.11–13q12.13. American Journal of Medical Genetics Part A 2014; 164(7): 1734 doi: 10.1002/ajmg.a.36391
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14 |
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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15 |
Salvatore Benvenga. When thyroid hormone replacement is ineffective?. Current Opinion in Endocrinology, Diabetes & Obesity 2013; 20(5): 467 doi: 10.1097/MED.0000000000000003
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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 Spectrum. Human Mutation 2014; 35(5): 521 doi: 10.1002/humu.22538
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17 |
Nasreen Banu S., Naga Chaitanya Vinnakota, Lavanya Alluwada, Parijat Ram Tripathi. Case Report: Johanson–Blizzard’s Syndrome with a Novel Mutation in UBR1 Gene. Journal of Neonatology 2024; doi: 10.1177/09732179241299957
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18 |
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): e13066 doi: 10.1111/ijcp.13066
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19 |
Inessa Normatov, Timothy Sentongo. Pancreatic Malnutrition in Children. Pediatric Annals 2019; 48(11) doi: 10.3928/19382359-20191018-01
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20 |
Amornluck Krasaelap, Steven L. Werlin, Praveen S. Goday. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. 2022; : 513 doi: 10.1007/978-3-030-80068-0_39
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21 |
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; doi: 10.1007/s00247-024-06118-w
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22 |
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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23 |
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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24 |
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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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 disability. The American Journal of Human Genetics 2024; doi: 10.1016/j.ajhg.2024.11.009
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