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Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: massey r. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Crow YJ, et al. Among authors: massey rf. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845398
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Robin NH, et al. Among authors: massey rf. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg.a.31443. Am J Med Genet A. 2006. PMID: 17036343
Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis.
Takele WW, Vesco KK, Josefson J, Redman LM, Hannah W, Bonham MP, Chen M, Chivers SC, Fawcett AJ, Grieger JA, Habibi N, Leung GKW, Liu K, Mekonnen EG, Pathirana M, Quinteros A, Taylor R, Ukke GG, Zhou SJ; ADA/EASD PMDI; Lim S. Takele WW, et al. Commun Med (Lond). 2024 Apr 20;4(1):75. doi: 10.1038/s43856-024-00491-1. Commun Med (Lond). 2024. PMID: 38643248 Free PMC article.
Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review.
Felton JL, Redondo MJ, Oram RA, Speake C, Long SA, Onengut-Gumuscu S, Rich SS, Monaco GSF, Harris-Kawano A, Perez D, Saeed Z, Hoag B, Jain R, Evans-Molina C, DiMeglio LA, Ismail HM, Dabelea D, Johnson RK, Urazbayeva M, Wentworth JM, Griffin KJ, Sims EK; ADA/EASD PMDI. Felton JL, et al. Commun Med (Lond). 2024 Apr 6;4(1):66. doi: 10.1038/s43856-024-00478-y. Commun Med (Lond). 2024. PMID: 38582818 Free PMC article.
Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis.
Ahmad A, Lim LL, Morieri ML, Tam CH, Cheng F, Chikowore T, Dudenhöffer-Pfeifer M, Fitipaldi H, Huang C, Kanbour S, Sarkar S, Koivula RW, Motala AA, Tye SC, Yu G, Zhang Y, Provenzano M, Sherifali D, de Souza RJ, Tobias DK; ADA/EASD PMDI; Gomez MF, Ma RCW, Mathioudakis N. Ahmad A, et al. Commun Med (Lond). 2024 Jan 22;4(1):11. doi: 10.1038/s43856-023-00429-z. Commun Med (Lond). 2024. PMID: 38253823 Free PMC article.
534 results