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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.
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.
Nomenclature for human and animal fungal pathogens and diseases: a proposal for standardized terminology.
de Hoog S, Walsh TJ, Ahmed SA, Alastruey-Izquierdo A, Arendrup MC, Borman A, Chen S, Chowdhary A, Colgrove RC, Cornely OA, Denning DW, Dufresne PJ, Filkins L, Gangneux J-P, Gené J, Groll AH, Guillot J, Haase G, Halliday C, Hawksworth DL, Hay R, Hoenigl M, Hubka V, Jagielski T, Kandemir H, Kidd SE, Kus JV, Kwon-Chung J, Lockhart SR, Meis JF, Mendoza L, Meyer W, Nguyen MH, Song Y, Sorrell TC, Stielow JB, Vilela R, Vitale RG, Wengenack NL, White PL, Ostrosky-Zeichner L, Zhang SX; ISHAM/ECMM/FDLC Working Group Nomenclature of Clinical Fungi. de Hoog S, et al. Among authors: walsh tj. J Clin Microbiol. 2024 Nov 11:e0093724. doi: 10.1128/jcm.00937-24. Online ahead of print. J Clin Microbiol. 2024. PMID: 39526838
3,150 results