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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: simons p. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. Hamel BC, et al. Among authors: simons p. J Med Genet. 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. J Med Genet. 1996. PMID: 8818951 Free PMC article.
Is cardiovascular disease in PCOS driven by MASLD?
Chen H, Simons PIHG, Brouwers MCGJ. Chen H, et al. Among authors: simons pihg. Trends Endocrinol Metab. 2024 Nov 7:S1043-2760(24)00273-X. doi: 10.1016/j.tem.2024.10.005. Online ahead of print. Trends Endocrinol Metab. 2024. PMID: 39510952
Fructose restriction has beneficial effects on adipose tissue distribution but not on serum adipokine levels: Post-hoc analysis of a double-blind randomized controlled trial.
van Oeteren MAJ, Simons N, Simons PIHG, van de Waarenburg MPH, Kooi ME, Feskens EJM, van der Ploeg EMCL, Van den Eynde MDG, Houben AJHM, Schalkwijk CG, Brouwers MCGJ. van Oeteren MAJ, et al. Among authors: simons pihg. Clin Obes. 2024 Oct 28:e12714. doi: 10.1111/cob.12714. Online ahead of print. Clin Obes. 2024. PMID: 39468417
Long-term restoration of bowel continuity after rectal cancer resection and the influence of surgical technique: A nationwide cross-sectional study.
Hazen SJA, van Geffen EGM, Sluckin TC, Beets GL, Belgers HJ, Borstlap WAA, Consten ECJ, Dekker JT, Hompes R, Tuynman JB, van Westreenen HL, de Wilt JHW, Tanis PJ, Kusters M; Dutch Snapshot Research Group. Hazen SJA, et al. Colorectal Dis. 2024 Jun;26(6):1153-1165. doi: 10.1111/codi.17015. Epub 2024 May 5. Colorectal Dis. 2024. PMID: 38706109
Prognostic significance of MRI-detected extramural venous invasion according to grade and response to neo-adjuvant treatment in locally advanced rectal cancer A national cohort study after radiologic training and reassessment.
Geffen EGMV, Nederend J, Sluckin TC, Hazen SJA, Horsthuis K, Beets-Tan RGH, Marijnen CAM, Tanis PJ, Kusters M; Dutch Snapshot Research Group. Geffen EGMV, et al. Eur J Surg Oncol. 2024 Jun;50(6):108307. doi: 10.1016/j.ejso.2024.108307. Epub 2024 Mar 29. Eur J Surg Oncol. 2024. PMID: 38581757 Free article.
Pulmonary Vein Isolation With or Without Left Atrial Appendage Ligation in Atrial Fibrillation: The aMAZE Randomized Clinical Trial.
Lakkireddy DR, Wilber DJ, Mittal S, Tschopp D, Ellis CR, Rasekh A, Hounshell T, Evonich R, Chandhok S, Berger RD, Horton R, Hoskins MH, Calkins H, Yakubov SJ, Simons P, Saville BR, Lee RJ; aMAZE Investigators. Lakkireddy DR, et al. Among authors: simons p. JAMA. 2024 Apr 2;331(13):1099-1108. doi: 10.1001/jama.2024.3026. JAMA. 2024. PMID: 38563835 Free PMC article. Clinical Trial.
311 results