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Page 1
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.
Zenker M, Mayerle J, Reis A, Lerch MM. Zenker M, et al. Among authors: mayerle j. Endocrinol Metab Clin North Am. 2006 Jun;35(2):243-53, vii-viii. doi: 10.1016/j.ecl.2006.02.013. Endocrinol Metab Clin North Am. 2006. PMID: 16632090 Review.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: mayerle j. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
Clinical utility gene card for: Johanson-Blizzard syndrome.
Sukalo M, Mayerle J, Zenker M. Sukalo M, et al. Among authors: mayerle j. Eur J Hum Genet. 2014 Jan;22(1). doi: 10.1038/ejhg.2013.65. Epub 2013 May 8. Eur J Hum Genet. 2014. PMID: 23652379 Free PMC article. No abstract available.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: mayerle j. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Developmental and metabolic disorders of the pancreas.
Lerch MM, Zenker M, Turi S, Mayerle J. Lerch MM, et al. Among authors: mayerle j. Endocrinol Metab Clin North Am. 2006 Jun;35(2):219-41, vii. doi: 10.1016/j.ecl.2006.02.004. Endocrinol Metab Clin North Am. 2006. PMID: 16632089 Review.
Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.
Weiss FU, Schurmann C, Guenther A, Ernst F, Teumer A, Mayerle J, Simon P, Völzke H, Radke D, Greinacher A, Kuehn JP, Zenker M, Völker U, Homuth G, Lerch MM. Weiss FU, et al. Among authors: mayerle j. Gut. 2015 Apr;64(4):646-56. doi: 10.1136/gutjnl-2014-306930. Epub 2014 Jul 15. Gut. 2015. PMID: 25028398
403 results