DNA Mutational Analysis
This graph shows the total number of publications written about "DNA Mutational Analysis" by people in the URMC Research Network by year, and whether "DNA Mutational Analysis" was a major or minor topic of these publication.
Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Hou R, Manwaring LP, Moley JF, Whelan A. A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1. Endocr Pract. 2011 May-Jun; 17(3):e63-7.
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Couderc JP, Xia X, Peterson DR, McNitt S, Zhao H, Polonsky S, Moss AJ, Zareba W. T-wave morphology abnormalities in benign, potent, and arrhythmogenic I(kr) inhibition. Heart Rhythm. 2011 Jul; 8(7):1036-43.
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Deshpande V, Nduaguba A, Zimmerman SM, Kehoe SM, Macconaill LE, Lauwers GY, Ferrone C, Bardeesy N, Zhu AX, Hezel AF. Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma. BMC Cancer. 2011; 11:60.
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Gao PS, Rafaels NM, Mu D, Hand T, Murray T, Boguniewicz M, Hata T, Schneider L, Hanifin JM, Gallo RL, Gao L, Beaty TH, Beck LA, Leung DY, Barnes KC. Genetic variants in thymic stromal lymphopoietin are associated with atopic dermatitis and eczema herpeticum. J Allergy Clin Immunol. 2010 Jun; 125(6):1403-1407.e4.
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Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2010 Mar; 20(3):166-73.
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Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan; 42(1):72-6.
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Marder K, Zhao H, Eberly S, Tanner CM, Oakes D, Shoulson I. Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants. Neurology. 2009 Aug 4; 73(5):385-92.
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Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5.
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Ohta S, Uemura H, Matsui Y, Ishiguro H, Fujinami K, Kondo K, Miyamoto H, Yazawa T, Danenberg K, Danenberg PV, Tohnai I, Kubota Y. Alterations of p16 and p14ARF genes and their 9p21 locus in oral squamous cell carcinoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Jan; 107(1):81-91.
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Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, Pandya S. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. 2009 Apr; 24(4):425-30.
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