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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B. Fadista J, et al. Among authors: pakarinen m. Eur J Hum Genet. 2018 Apr;26(4):561-569. doi: 10.1038/s41431-017-0053-7. Epub 2018 Jan 29. Eur J Hum Genet. 2018. PMID: 29379196 Free PMC article.
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.
Virtanen VB, Pukkala E, Kivisaari R, Salo PP, Koivusalo A, Arola J, Miettinen PJ, Rintala RJ, Perola M, Pakarinen MP. Virtanen VB, et al. Among authors: pakarinen mp. Endocr Relat Cancer. 2013 Jul 12;20(4):595-602. doi: 10.1530/ERC-13-0082. Print 2013 Aug. Endocr Relat Cancer. 2013. PMID: 23744765
A Nordic multicenter survey of long-term bowel function after transanal endorectal pull-through in 200 patients with rectosigmoid Hirschsprung disease.
Bjørnland K, Pakarinen MP, Stenstrøm P, Stensrud KJ, Neuvonen M, Granström AL, Graneli C, Pripp AH, Arnbjörnsson E, Emblem R, Wester T, Rintala RJ; Nordic Pediatric Surgery Study Consortium. Bjørnland K, et al. Among authors: pakarinen mp. J Pediatr Surg. 2017 Sep;52(9):1458-1464. doi: 10.1016/j.jpedsurg.2017.01.001. Epub 2017 Jan 5. J Pediatr Surg. 2017. PMID: 28094015
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
Virtanen VB, Salo PP, Cao J, Löf-Granström A, Milani L, Metspalu A, Rintala RJ, Saarenpää-Heikkilä O, Paunio T, Wester T, Nordenskjöld A, Perola M, Pakarinen MP. Virtanen VB, et al. Among authors: pakarinen mp. Eur J Med Genet. 2019 Apr;62(4):229-234. doi: 10.1016/j.ejmg.2018.07.019. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031151
ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.
Kyrklund K, Sloots CEJ, de Blaauw I, Bjørnland K, Rolle U, Cavalieri D, Francalanci P, Fusaro F, Lemli A, Schwarzer N, Fascetti-Leon F, Thapar N, Johansen LS, Berrebi D, Hugot JP, Crétolle C, Brooks AS, Hofstra RM, Wester T, Pakarinen MP. Kyrklund K, et al. Among authors: pakarinen mp. Orphanet J Rare Dis. 2020 Jun 25;15(1):164. doi: 10.1186/s13023-020-01362-3. Orphanet J Rare Dis. 2020. PMID: 32586397 Free PMC article. Review.
Total colonic aganglionosis: multicentre study of surgical treatment and patient-reported outcomes up to adulthood.
Stenström P, Kyrklund K, Bräutigam M, Engstrand Lilja H, Juul Stensrud K, Löf Granström A, Qvist N, Söndergaard Johansson L, Arnbjörnsson E, Borg H, Wester T, Björnland K, Pakarinen MP. Stenström P, et al. Among authors: pakarinen mp. BJS Open. 2020 Oct;4(5):943-953. doi: 10.1002/bjs5.50317. Epub 2020 Jul 13. BJS Open. 2020. PMID: 32658386 Free PMC article.
343 results