9313765 10606640 10389854 15830177 10819248 24097065 30665703 29207974 25414397 30191644 27486234 23551881 30977832[uid] - Search Results

Year	Number of Results
1997	1
1999	1
2000	2
2005	1
2013	2
2014	1
2016	1
2017	1
2018	1
2019	3
2024	0

1

Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

Furuta H, Iwasaki N, Oda N, Hinokio Y, Horikawa Y, Yamagata K, Yano N, Sugahiro J, Ogata M, Ohgawara H, Omori Y, Iwamoto Y, Bell GI. Furuta H, et al. Diabetes. 1997 Oct;46(10):1652-7. doi: 10.2337/diacare.46.10.1652. Diabetes. 1997. PMID: 9313765

2

Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree.

Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU. Lausen J, et al. Nucleic Acids Res. 2000 Jan 15;28(2):430-7. doi: 10.1093/nar/28.2.430. Nucleic Acids Res. 2000. PMID: 10606640 Free PMC article.

3

Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

Navas MA, Munoz-Elias EJ, Kim J, Shih D, Stoffel M. Navas MA, et al. Diabetes. 1999 Jul;48(7):1459-65. doi: 10.2337/diabetes.48.7.1459. Diabetes. 1999. PMID: 10389854

4

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT. Pearson ER, et al. Diabetologia. 2005 May;48(5):878-85. doi: 10.1007/s00125-005-1738-y. Epub 2005 Apr 14. Diabetologia. 2005. PMID: 15830177

5

R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1.

Yang Q, Yamagata K, Yamamoto K, Cao Y, Miyagawa J, Fukamizu A, Hanafusa T, Matsuzawa Y. Yang Q, et al. Diabetologia. 2000 Apr;43(4):520-4. doi: 10.1007/s001250051338. Diabetologia. 2000. PMID: 10819248

6

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D. Flannick J, et al. Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6. Nat Genet. 2013. PMID: 24097065 Free PMC article.

7

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, Hattersley AT, Weedon MN. Wright CF, et al. Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18. Am J Hum Genet. 2019. PMID: 30665703 Free PMC article.

8

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V, Gassenhuber J, Phillips T, Oliveira G, Harbaugh R, Villarasa N, Topol EJ, Seufferlein T, Boehm BO. Bansal V, et al. BMC Med. 2017 Dec 6;15(1):213. doi: 10.1186/s12916-017-0977-3. BMC Med. 2017. PMID: 29207974 Free PMC article.

9

Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

Delvecchio M, Ludovico O, Menzaghi C, Di Paola R, Zelante L, Marucci A, Grasso V, Trischitta V, Carella M, Barbetti F, Gallo F, Coccioli MS, Zecchino C, Faienza MF, Cardinale G, Franzese A, Mozzillo E, Iafusco D, Zanfardino A. Delvecchio M, et al. Diabetes Care. 2014 Dec;37(12):e258-60. doi: 10.2337/dc14-1788. Diabetes Care. 2014. PMID: 25414397 No abstract available.

10

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Johnson SR, et al. Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14. Pediatr Diabetes. 2019. PMID: 30191644

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