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163 results

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Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: rosty c. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
[A voluminous inguinal hernia].
Rosty C, Hoang C, Sriha B, Totobenazara JL, Le Charpentier Y. Rosty C, et al. Ann Pathol. 1998 Apr;18(2):141-2. Ann Pathol. 1998. PMID: 9608869 French. No abstract available.
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.
Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, English DR, Walsh MD, Clendenning M, McKeone DM, Walters RJ, Roberts A, Pearson SA, Pavluk E, Hopper JL, Gattas MR, Goldblatt J, George J, Suthers GK, Phillips KD, Woodall S, Arnold J, Tucker K, Muir A, Field M, Greening S, Gallinger S, Perrier R, Baron JA, Potter JD, Haile R, Frankel W, de la Chapelle A, Macrae F, Rosty C, Walker NI, Parry S, Young JP. Buchanan DD, et al. Among authors: rosty c. PLoS One. 2010 Jul 16;5(7):e11636. doi: 10.1371/journal.pone.0011636. PLoS One. 2010. PMID: 20661287 Free PMC article.
Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).
Roberts A, Nancarrow D, Clendenning M, Buchanan DD, Jenkins MA, Duggan D, Taverna D, McKeone D, Walters R, Walsh MD, Young BW, Jass JR, Rosty C, Gattas M, Pelzer E, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Parry S, Woodall S, Arnold J, Tucker K, Muir A, Drini M, Macrae F, Newcomb P, Potter JD, Pavluk E, Lindblom A, Young JP. Roberts A, et al. Among authors: rosty c. Fam Cancer. 2011 Jun;10(2):245-54. doi: 10.1007/s10689-010-9408-8. Fam Cancer. 2011. PMID: 21165777 Free PMC article.
Mutation deep within an intron of MSH2 causes Lynch syndrome.
Clendenning M, Buchanan DD, Walsh MD, Nagler B, Rosty C, Thompson B, Spurdle AB, Hopper JL, Jenkins MA, Young JP. Clendenning M, et al. Among authors: rosty c. Fam Cancer. 2011 Jun;10(2):297-301. doi: 10.1007/s10689-011-9427-0. Fam Cancer. 2011. PMID: 21360204 Free PMC article.
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.
Walsh MD, Buchanan DD, Pearson SA, Clendenning M, Jenkins MA, Win AK, Walters RJ, Spring KJ, Nagler B, Pavluk E, Arnold ST, Goldblatt J, George J, Suthers GK, Phillips K, Hopper JL, Jass JR, Baron JA, Ahnen DJ, Thibodeau SN, Lindor N, Parry S, Walker NI, Rosty C, Young JP. Walsh MD, et al. Among authors: rosty c. Mod Pathol. 2012 May;25(5):722-30. doi: 10.1038/modpathol.2011.209. Epub 2012 Feb 10. Mod Pathol. 2012. PMID: 22322191 Free PMC article.
163 results