Heterozygote Detection
This graph shows the total number of publications written about "Heterozygote Detection" by people in the URMC Research Network by year, and whether "Heterozygote Detection" was a major or minor topic of these publication.
Below are the most recent publications written about "Heterozygote Detection" by people in Profiles.
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Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean WH, Cordell HJ. Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol. 2008 Apr; 121(4):940-46.e3.
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Rossi D, De Smet P, Lyfenko A, Galli L, Lorenzini S, Franci D, Petrioli F, Orrico A, Angelini C, Tegazzin V, Dirksen R, Sorrentino V. A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres. J Med Genet. 2007 Feb; 44(2):e67.
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Lagoe E, Labella S, Arnold G, Rowley PT. Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. Genet Test. 2005; 9(3):255-60.
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Watelet LF, Moss AJ, Zareba W, Oakes D, Ryan D. Detection of a group of risk factors in coronary disease using a new carriership analysis approach. Am J Cardiol. 2000 Dec 1; 86(11):1253-6, A6.
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Couderc JP, Zareba W, Burattini L, Moss AJ. Beat-to-Beat repolarization variability in LQTS patients with the SCN5A sodium channel gene mutation. Pacing Clin Electrophysiol. 1999 Nov; 22(11):1581-92.
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Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. Blood Cells Mol Dis. 1997 Aug; 23(2):314-20.
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Rowley PT, Loader S, Levenkron JC. Cystic fibrosis carrier population screening: a review. Genet Test. 1997; 1(1):53-9.
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Loader S, Caldwell P, Kozyra A, Levenkron JC, Boehm CD, Kazazian HH, Rowley PT. Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet. 1996 Jul; 59(1):234-47.
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Lai LP, Deng CL, Moss AJ, Kass RS, Liang CS. Polymorphism of the gene encoding a human minimal potassium ion channel (minK). Gene. 1994 Dec 30; 151(1-2):339-40.
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Prior TW, Papp AC, Snyder PJ, Sedra MS, Western LM, Bartolo C, Moxley RT, Mendell JR. Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. Am J Med Genet. 1994 Mar 1; 50(1):68-73.
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