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Results by year

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

Year Number of Results
1964 2
1966 1
1970 1
1972 1
1974 2
1975 2
1976 2
1977 2
1978 4
1979 2
1980 4
1981 5
1982 2
1984 3
1985 1
1986 4
1987 4
1988 6
1989 3
1990 7
1991 5
1992 1
1993 3
1994 5
1995 1
1996 3
1998 4
1999 3
2000 15
2001 7
2002 3
2003 3
2004 2
2005 7
2006 9
2007 6
2008 5
2009 3
2010 3
2011 1
2012 2
2014 1
2016 1
2017 2
2019 1
2020 1
2024 0

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Article attribute

Article type

Publication date

PubMed (OMIM) for id: 3710

152 results

Results by year

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Page 1
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E. Rönkkö J, et al. Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. doi: 10.1002/acn3.51190. Epub 2020 Sep 19. Ann Clin Transl Neurol. 2020. PMID: 32949214 Free PMC article.
Diabetes relief in mice by glucose-sensing insulin-secreting human α-cells.
Furuyama K, Chera S, van Gurp L, Oropeza D, Ghila L, Damond N, Vethe H, Paulo JA, Joosten AM, Berney T, Bosco D, Dorrell C, Grompe M, Ræder H, Roep BO, Thorel F, Herrera PL. Furuyama K, et al. Nature. 2019 Mar;567(7746):43-48. doi: 10.1038/s41586-019-0942-8. Epub 2019 Feb 13. Nature. 2019. PMID: 30760930 Free PMC article.
BAP1 regulates IP3R3-mediated Ca2+ flux to mitochondria suppressing cell transformation.
Bononi A, Giorgi C, Patergnani S, Larson D, Verbruggen K, Tanji M, Pellegrini L, Signorato V, Olivetto F, Pastorino S, Nasu M, Napolitano A, Gaudino G, Morris P, Sakamoto G, Ferris LK, Danese A, Raimondi A, Tacchetti C, Kuchay S, Pass HI, Affar EB, Yang H, Pinton P, Carbone M. Bononi A, et al. Nature. 2017 Jun 22;546(7659):549-553. doi: 10.1038/nature22798. Epub 2017 Jun 14. Nature. 2017. PMID: 28614305 Free PMC article.
Case report: type 1 diabetes in monozygotic quadruplets.
Stechova K, Halbhuber Z, Hubackova M, Kayserova J, Petruzelkova L, Vcelakova J, Kolouskova S, Ulmannova T, Faresjö M, Neuwirth A, Spisek R, Sediva A, Filipp D, Sumnik Z. Stechova K, et al. Eur J Hum Genet. 2012 Apr;20(4):457-62. doi: 10.1038/ejhg.2011.212. Epub 2011 Nov 23. Eur J Hum Genet. 2012. PMID: 22108602 Free PMC article.
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Wellcome Trust Case Control Consortium; Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Ar… See abstract for full author list ➔ Wellcome Trust Case Control Consortium, et al. Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979. Nature. 2010. PMID: 20360734 Free PMC article.
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.
Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H. Wang K, et al. Hum Mol Genet. 2010 May 15;19(10):2059-67. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22. Hum Mol Genet. 2010. PMID: 20176734 Free PMC article.
152 results