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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1992 7
1993 5
1994 2
1995 1
1996 1
1997 1
1998 3
1999 2
2000 1
2001 1
2002 1
2003 3
2004 4
2006 2
2007 1
2008 1
2009 3
2010 1
2011 2
2012 1
2013 2
2014 1
2017 1
2024 0

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PubMed for id: 547696

47 results

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Page 1
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium. Raimondo A, et al. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11. Hum Mol Genet. 2014. PMID: 25015100 Free PMC article.
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL. Beer NL, et al. Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18. Diabetes Care. 2012. PMID: 22611063 Free PMC article.
Large islets, beta-cell proliferation, and a glucokinase mutation.
Kassem S, Bhandari S, Rodríguez-Bada P, Motaghedi R, Heyman M, García-Gimeno MA, Cobo-Vuilleumier N, Sanz P, Maclaren NK, Rahier J, Glaser B, Cuesta-Muñoz AL. Kassem S, et al. N Engl J Med. 2010 Apr 8;362(14):1348-50. doi: 10.1056/NEJMc0909845. N Engl J Med. 2010. PMID: 20375417 Free article. No abstract available.
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Barbetti F, Cobo-Vuilleumier N, Dionisi-Vici C, Toni S, Ciampalini P, Massa O, Rodriguez-Bada P, Colombo C, Lenzi L, Garcia-Gimeno MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL. Barbetti F, et al. Mol Endocrinol. 2009 Dec;23(12):1983-9. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2. Mol Endocrinol. 2009. PMID: 19884385 Free PMC article.
47 results