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The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: walsh t. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Among authors: walsh t. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
Olorofim for the treatment of invasive fungal diseases in patients with few or no therapeutic options: a single-arm, open-label, phase 2b study.
Maertens JA, Thompson GR 3rd, Spec A, Donovan FM, Hammond SP, Bruns AHW, Rahav G, Shoham S, Johnson R, Rijnders B, Schaenman J, Hoenigl M, Morrissey CO, Mehta SR, Heath CH, Koehler P, Paterson DL, Slavin MA, Fortún J, Nguyen MH, Patterson TF, Uspenskaya O, Van de Veerdonk FL, Verweij PE, Aoun M, Georgala A, Alexander BD, Chayakulkeeree M, Mehra V, Miceli MH, Sikka MK, Solé A, Walsh TJ, Aguado JM, Holland SM, Moussa M, Rautemaa-Richardson R, Bazaz R, Schwartz S, Walsh SR, Plate M, Yehudai-Ofir D, Brüggemann RJ, Cornely OA, Ostrosky-Zeichner L, Vazquez JA, White PL, Cornelissen K, Ross GG, Fitton L, Dane A, Zinzi D, Rex JH, Chen SC. Maertens JA, et al. Among authors: walsh tj. Lancet Infect Dis. 2025 Jun 17:S1473-3099(25)00224-5. doi: 10.1016/S1473-3099(25)00224-5. Online ahead of print. Lancet Infect Dis. 2025. PMID: 40541222
A Global Analysis of Cases of Mucormycosis Recorded in the European Confederation of Medical Mycology / International Society for Human and Animal Mycology (ECMM / ISHAM) Zygomyco.net Registry from 2009 to 2022.
Skiada A, Drogari-Apiranthitou M, Roilides E, Chander J, Khostelidi S, Klimko N, Hamal P, Chrenkova V, Kanj SS, Zein SE, Lagrou K, Lass-Flörl C, Barac A, Dolatabadi S, Zimmerli S, Matehkolaei AR, Iosifidis E, Petrikkos L, Kourti M, van Dijk K, Spiliopoulou A, Pavleas I, Christofidou M, Carlesse F, Noska A, Partridge D, Gkegkes ID, Cattaneo M, Hoenigl M, Mares M, Moroti R, Arsenijevic VA, Alastruey-Izquierdo A, Walsh TJ, Chakrabarti A, Petrikkos G; ECMM / ISHAM Study Group on Zygomycosis. Skiada A, et al. Among authors: walsh tj. Mycopathologia. 2025 Jun 10;190(4):53. doi: 10.1007/s11046-025-00954-6. Mycopathologia. 2025. PMID: 40493110
3,216 results