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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: hofstra rm. 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.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
MacKenzie KC, Garritsen R, Chauhan RK, Sribudiani Y, de Graaf BM, Rugenbrink T, Brouwer R, van Ijcken WFJ, de Blaauw I, Brooks AS, Sloots CEJ, Meeuwsen CJHM, Wijnen RM, Newgreen DF, Burns AJ, Hofstra RMW, Alves MM, Brosens E. MacKenzie KC, et al. Among authors: hofstra rmw. Int J Mol Sci. 2021 Nov 16;22(22):12354. doi: 10.3390/ijms222212354. Int J Mol Sci. 2021. PMID: 34830235 Free PMC article.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: hofstra rmw. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: hofstra rm. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
Genetics of enteric neuropathies.
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Brosens E, et al. Among authors: hofstra rm. Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Dev Biol. 2016. PMID: 27426273 Free article. Review.
284 results