Below are the most recent publications written about "Founder Effect" by people in Profiles.
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Gruntman AM, Xue W, Flotte TR. Alpha-1 Antitrypsin Deficiency. Methods Mol Biol. 2024; 2750:1-7.
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Adalsteinsdottir B, Burke M, Maron BJ, Danielsen R, Lopez B, Diez J, Jarolim P, Seidman J, Seidman CE, Ho CY, Gunnarsson GT. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open Heart. 2020; 7(1):e001220.
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Lim ET, W?rtz P, Havulinna AS, Palta P, Tukiainen T, Rehnstr?m K, Esko T, M?gi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, H?m?l?inen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtim?ki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494.
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Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, Stefansson K, DePalma SR, Mazaika E, McDonough B, Danielsen R, Seidman JG, Seidman CE, Gunnarsson GT. Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation. Circulation. 2014 Sep 30; 130(14):1158-67.
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Pistis G, Okonkwo SU, Traglia M, Sala C, Shin SY, Masciullo C, Buetti I, Massacane R, Mangino M, Thein SL, Spector TD, Ganesh S, Pirastu N, Gasparini P, Soranzo N, Camaschella C, Hart D, Green MR, Toniolo D. Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. PLoS One. 2013; 8(7):e69206.
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Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortob?gyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH, Weale ME, Al-Chalabi A, Shaw CE. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013 Jan; 21(1):102-8.
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Smith BN, Evans C, Ali A, Ancliff PJ, Hayee B, Segal AW, Hall G, Kaya Z, Shakoori AR, Linch DC, Gale RE. Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. Br J Haematol. 2012 Jul; 158(1):146-9.
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Fogh I, Rijsdijk F, Andersen PM, Sham PC, Knight J, Neale B, McKenna-Yasek D, Silani V, Brown RH, Powell JF, Al-Chalabi A. Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality. Neurogenetics. 2007 Aug; 8(3):235-6.
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Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, Shakoori AR, Seidel-Renkert A, Farooq H, Narod S, Amin A, Hamann U. Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer. 2006 Dec 15; 119(12):2832-9.
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Seddon JM, Ellegren H. A temporal analysis shows major histocompatibility complex loci in the Scandinavian wolf population are consistent with neutral evolution. Proc Biol Sci. 2004 Nov 07; 271(1554):2283-91.