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Year Number of Results
2015 1
2017 2
2018 3
2019 3
2020 4
2021 3
2022 6
2023 1
2024 0

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Page 1
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
Recurrent 17q12 microduplications contribute to renal disease but not diabetes.
Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, Patel K, Wright C, Weedon MN. Cannon S, et al. J Med Genet. 2023 May;60(5):491-497. doi: 10.1136/jmg-2022-108615. Epub 2022 Sep 15. J Med Genet. 2023. PMID: 36109160 Free PMC article.
PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN. Patel KA, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):e2318-e2323. doi: 10.1210/clinem/dgac104. J Clin Endocrinol Metab. 2022. PMID: 35235652 Free PMC article.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, Johnson MB, Ellard S, Flanagan SE, Cizmecioglu F, Berberoglu M, Demir K, Catli G, Bas S, Akcay T, Demirbilek H, Weedon MN, Hattersley AT. Patel KA, et al. Diabetologia. 2022 Feb;65(2):336-342. doi: 10.1007/s00125-021-05597-y. Epub 2021 Oct 23. Diabetologia. 2022. PMID: 34686905 Free PMC article.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT. De Franco E, et al. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 Free PMC article.
Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).
Chung WK, Erion K, Florez JC, Hattersley AT, Hivert MF, Lee CG, McCarthy MI, Nolan JJ, Norris JM, Pearson ER, Philipson L, McElvaine AT, Cefalu WT, Rich SS, Franks PW. Chung WK, et al. Diabetologia. 2020 Sep;63(9):1671-1693. doi: 10.1007/s00125-020-05181-w. Diabetologia. 2020. PMID: 32556613 Free PMC article.
20 results