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1.	Jakubowska, A, et al. (author) Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study 2012 In: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 106:12, s. 2016-2024 Journal article (peer-reviewed)
2.	Kamm, C, et al. (author) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group 2005 In: Brain. - : Oxford University Press (OUP). - 1460-2156 .- 0006-8950. ; 128:8, s. 1855-1860 Journal article (peer-reviewed)abstract The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.
3.	Ueda, H, et al. (author) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease 2003 In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 423:6939, s. 506-511 Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Chen, X. (1); Wang, X. (1); Davidson, R. (1); Cook, J. (1); Antoniou, A (1); Benitez, J. (1); show more...; Gregory, S. (1); Rosenquist, R. (1); Peterlongo, P (1); Sharma, M. (1); Schols, L (1); Herbst, K. (1); Hamann, U (1); Andrulis, IL (1); Glendon, G (1); Simard, J (1); Devilee, P (1); Seynaeve, C (1); Jakubowska, A (1); Lubinski, J (1); Chenevix-Trench, G (1); Easton, DF (1); Rosenquist, Richard (1); Borglum, AD (1); Nilsson, Christer (1); Liljegren, A (1); Szabo, C (1); Hulme, J (1); Tuomilehto, J. (1); Platte, R (1); Eccles, D (1); Evans, DG (1); van Asperen, CJ (1); Meindl, A (1); Fredericksen, Z (1); van den Ouweland, AM ... (1); Beesley, J (1); Couch, F (1); Cybulski, C (1); Karlsson, P (1); Gasser, T. (1); Metzker, ML (1); Healy, S. (1); Illig, T (1); Melin, Beatrice (1); Jacobs, C (1); Dahlman, I (1); Isaacs, C (1); Rookus, M (1); Peock, S (1); show less...

University: Lund University (2); Karolinska Institutet (2); Umeå University (1); Uppsala University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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