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Year | Number of Results |
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2002 | 1 |
2010 | 1 |
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MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).
Biochem Biophys Res Commun. 2000 Dec 29;279(3):792-8. doi: 10.1006/bbrc.2000.4024.
Biochem Biophys Res Commun. 2000.
PMID: 11162430
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis.
Xu JY, Chan V, Zhang WY, Wat NM, Lam KS.
Xu JY, et al.
Diabetologia. 2002 May;45(5):744-6. doi: 10.1007/s00125-002-0814-9. Epub 2002 Apr 3.
Diabetologia. 2002.
PMID: 12107757
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Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children.
Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, Verge CF.
Hameed S, et al.
Pediatr Diabetes. 2011 May;12(3 Pt 1):142-9. doi: 10.1111/j.1399-5448.2010.00681.x. Epub 2010 Sep 6.
Pediatr Diabetes. 2011.
PMID: 21518407
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New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.
Ma Y, Gong S, Wang X, Cai X, Xiao X, Gu W, Yang J, Zhong L, Xiao J, Li M, Liu W, Zhang S, Zhou X, Li Y, Zhou L, Zhu Y, Luo Y, Ren Q, Huang X, Gao X, Zhang X, Zhang R, Chen L, Wang F, Wang Q, Hu M, Han X, Ji L.
Ma Y, et al.
BMJ Open Diabetes Res Care. 2020 Mar;8(1):e000745. doi: 10.1136/bmjdrc-2019-000745.
BMJ Open Diabetes Res Care. 2020.
PMID: 32238361
Free PMC article.
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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL.
Althari S, et al.
Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9.
Am J Hum Genet. 2020.
PMID: 32910913
Free PMC article.
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