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Year Number of Results
1998 1
2000 1
2002 2
2003 2
2004 2
2005 1
2007 2
2008 2
2009 2
2011 2
2012 2
2013 1
2016 2
2017 3
2018 3
2019 4
2020 5
2021 2
2022 2
2023 3
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2025 1

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43 results

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Page 1
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Latt… See abstract for full author list ➔ Köttgen A, et al. Among authors: persico i. Nat Genet. 2013 Feb;45(2):145-54. doi: 10.1038/ng.2500. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263486 Free PMC article.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Leach IM, Ford I,… See abstract for full author list ➔ Pattaro C, et al. Among authors: persico i. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023. Nat Commun. 2016. PMID: 26831199 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
Ramírez MJ, Pujol R, Minguillón J, Bogliolo M, Persico I, Cavero D, de la Cal A, Río P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazán F, Antelo ML, Argilés B, Badell I, Baragaño M, Beléndez C, Bermúdez M, Bernués M, Buedo MI, Carrasco E, Català A, Costa D, Cuesta I, Fernandez-Delgado R, Fernández-Teijeiro A, Figuera Á, García M, Gondra A, González M, Muñiz SG, Hernández-Rodríguez I, Ibañez F, Kelleher NJ, Lendínez F, López M, López-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payán-Pernía S, Peláez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodríguez A, Rosell J, Saez R, Sánchez J, Sánchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdú-Amorós J, Verdugo V, Vidales I, Villarreal J, Díaz-de-Heredia C, Sevilla J, Bueren JA, Surrallés J. Ramírez MJ, et al. Among authors: persico i. Am J Hematol. 2025 Feb;100(2):272-284. doi: 10.1002/ajh.27520. Epub 2024 Nov 19. Am J Hematol. 2025. PMID: 39562502 Free PMC article.
43 results