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Browse Gene mutations topic

Analysis subtopic

 

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1-60 out of 60 article(s)
Title Author Type Date Words
Mutational analysis of the myocilin gene in primary open angle glaucoma and primary angle closure glaucoma in Indian population. Goyal, Amita; Kaur, Jasbir Abstract Jul 1, 2011 534
Eli Lilly & Co (Indianapolis IN) and Merck KGaA's (Darmstadt DEU) Erbitux helped a group of cancer patients previously thought to be immune to the treatment in a study that contradicts earlier assumptions of the way the drug works in those with a genetic mutation. Nov 1, 2010 349
The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis. Hamed, Mahmoud F. Abdel; Hussein, Hassan A.; Helmy, Nivine A.; Elsaie, Mohamed L. Clinical report Oct 1, 2010 2880
The development of antimicrobial resistance due to the antibiotic treatment of acne vulgaris: a review. Patel, Mital; Bowe, Whitney P.; Heughebaert, Carol; Shalita, Alan R. Report Jun 1, 2010 8778
Quantifying the effects of mutations on receptor binding specificity of influenza viruses. Hu, Wei Report Mar 1, 2010 7269
Covariation of mutation pairs expressed in HIV-1 protease and reverse transcriptase genes subjected to varying treatments. King, David; Cherry, Roger; Hu, Wei Report Mar 1, 2010 4560
BRCA1 gene mutation is linked to low oocyte reserves, study shows. Wendling, Patrice Dec 1, 2009 514
15th Congress of the European Cancer Organization and the 34th European Society for Medical Oncology multidisciplinary congress: GI update. Brown, Vanessa Clinical report Oct 1, 2009 1840
Development of methods to determine the pharmacodynamic effect of HDAC inhibitors on frataxin expression. Rusche, James Sep 22, 2009 354
Hypoglycemic and hypolipidemic effects of processed Aloe vera gel in a mouse model of non-insulin-dependent diabetes mellitus. Kim, Kwanghee; Kim, Hyunyul; Kwon, Jeunghak; Lee, Sungwon; Kong, Hyunseok; Im, Sun-A; Lee, Young-Hee Report Sep 1, 2009 4226
Frequency and evolution of azole resistance in Aspergillus fumigatus associated with treatment failure. Howard, Susan J.; Cerar, Dasa; Anderson, Michael J.; Albarrag, Ahmed; Fisher, Matthew C.; Pasqualott Report Jul 1, 2009 6354
Prediction of mutation position, mutated amino acid and timing in hemagglutinins from North America H1 influenza A virus. Yan, Shao-Min; Wu, Guang Report Apr 1, 2009 3847
Utility of oligonucleotide array--based comparative genomic hybridization for detection of target gene deletions. Wong, Lee-Jun C.; Dimmock, David; Geraghty, Michael T.; Quan, Richard; Lichter-Konecki, Uta; Wang, J Jul 1, 2008 3308
Combined heterozygote factor V Leiden mutation and anticardiolipin antibody positivity in a young patient with spontaneous deep vein thrombosis/Kombine heterozigot faktor V Leiden mutasyonu ve antikardiyolipin antikor pozitifligi olan genc bir hastada derin ven trombozu. Karadurmus, Nuri; Ozturk, Cengiz; Sonmez, Alper; Dogru, Teoman; Inal, Satilmis; Tasci, Canturk; Oztu Case study Feb 1, 2008 1269
Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction. Tsang, Jason C.H.; Charoenkwan, Pimlak; Chow, Katherine C.K.; Jin, Yongjie; Wanapirak, Chanane; Sang Dec 1, 2007 2487
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Lim, Kok Seong; Naviaux, Robert K.; Haas, Richard H. Jun 1, 2007 4736
Genetics and skin disease. Wood, E.J. May 1, 2007 772
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson, Marina L.; Warburton, Trent; Nelis, Eva; Brewer, Megan; Polly, Patsie; De Jonghe, Peter; Clinical report Feb 1, 2007 2248
Predicting Lynch syndrome propensity to cancer: two new models help sort out which patients need extensive genetic testing for the hereditary mutation. Moon, Mary Ann Nov 1, 2006 714
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. Piccioli, Patrizia; Serra, Martina; Gismondi, Viviana; Pedemonte, Simona; Loiacono, Fabrizio; Lastra Apr 1, 2006 3072
Origin of genetic information and evolution of biological species. Wahid, Pallacken Abdul Jun 22, 2005 11938
Certain measures may help prevent ovarian cancer in high-risk women. Finn, Robert Jun 15, 2005 654
Identification of subtypes of CYP2D gene rearrangements among carriers of CYP2D6 gene deletion and duplication. Ledesma, Maria C.; Agundez, Jose A.G. Jun 1, 2005 3320
Detecting the C282Y and H63D mutations of the HFE gene by Holliday junction-based allele-specific genotyping methods. Yang, Wendy; Yaoi, Takuro; Huang, Shurong; Yang, Qinghong; Hatcher, Sandra; Seet, Henrietta; Gregg, Jan 1, 2005 2071
Denaturing-HPLC-based assay for detection of ABL mutations in chronic myeloid leukemia patients resistant to imatinib. Soverini, Simona; Martinelli, Giovanni; Amabile, Marilina,; Poerio, Angela; Bianchini, Michele; Rost Jul 1, 2004 6541
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Bai, Ren-Kui; Wong, Lee-Jun C. Jun 1, 2004 3107
Colorectal ca founder mutation. Evans, Jeff Brief Article Mar 15, 2004 253
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Yen, Tina; Nightingale, Brian N.; Burns, Jennifer C.; Sullivan, David R.; Stewart, Peter M. Aug 1, 2003 7168
Detection of cystic fibrosis mutations by peptide mass signature genotyping. Malehorn, David E.; Telmer, Cheryl A.; McEwen, Sherri B.; An, Jiyan; Kinsey, Ashley D.; Retchless, A Aug 1, 2003 8530
Rapid detection of [beta]-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Shaji, Ramachandran V.; Edison, Eunice Sindhuvi; Poonkuzhali, Balasubramanian; Srivastava, Alok; Cha May 1, 2003 2785
Single-step assays to analyze CYP2D6 gene polymorphisms in Asians: allele frequencies and a novel *14B allele in mainland Chinese. Ji, Ling; Pan, Shixiu; Marti-Jaun, Jacqueline; Hanseler, Edgar; Rentsch, Katharina; Hersberger, Mart Jul 1, 2002 4808
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Krone, Nils; Braun, Andreas; Weinert, Stefanie; Peter, Michael; Roscher, Adelbert A.; Partsch, Carl- Jun 1, 2002 4987
Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the [alpha] and [beta] subunits of the epithelial sodium channel. Xue, Ming-Zhan; Bonny, Olivier; Morgenthaler, Stephan; Bochud, Murielle; Mooser, Vincent; Thilly, Wi May 1, 2002 5167
Diagnostic biochip array for fast and sensitive detection of K-ras mutations in stool. Prix, Lothar; Uciechowski, Peter; Bockmann, Beatrix; Giesing, Michael; Schuetz, Andreas J. Mar 1, 2002 4879
Trugene. Nov 1, 2001 91
Hepatotoxic Genetic Mutations. Kubetin, Sally Koch Sep 1, 2001 108
Stool DNA, Colon Ca. Kubetin, Sally Koch Jul 15, 2001 229
Capillary electrophoresis-based heteroduplex analysis with a universal heteroduplex generator for detection of point mutations associated with rifampin resistance in tuberculosis. Thomas, Gloria A.; Williams, Diana L.; Soper, Steven A. Jul 1, 2001 5642
Computerized Image Analysis of p53 and Proliferating Cell Nuclear Antigen Expression in Benign, Hyperplastic, and Malignant Endometrium. Elhafey, Ahmed S.; Papadimitriou, John C.; El-Hakim, Mohamed S.; El-Said, Ahmed I.; Ghannam, Bahaa B Jul 1, 2001 4700
Identification and Characterization of the SCA10 Mutation. Ashizawa, Tetsuo Jun 22, 2001 1267
Quantification of HER2/neu gene amplification by competitive PCR using fluorescent melting curve analysis. Lyon, Elaine; Millson, Alison; Lowery, Mary C.; Woods, Rachel; Wittwer, Carl T. May 1, 2001 5578
C677T and AI298C polymorphisms of the methylenetetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Hanson, Naomi Q.; Aras, Omer; Yang, Feng; Tsai, Michael Y. Apr 1, 2001 4323
Semiautomated DNA mutation analysis using a robotic workstation and molecular beacons. Smit, Maarten L.; Giesendorf, Belinda A.J.; Vet, Jacqueline A.M.; Trijbels, Frans J.M.; Blom, Henk J Apr 1, 2001 4436
High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Schaeffeler, Elke; Lang, Thomas; Zanger, Ulrich M.; Eichelbaum, Michel; Schwab, Matthias Mar 1, 2001 5176
Rapid single-tube genotyping of the factor V Leiden and prothrombin mutations by real-time PCR using dual-color detection. van den Bergh, Frank A.J.T.M.; van Oeveren-Dybicz, Arletta M.; Bon, Michelle A.M. Aug 1, 2000 2736
Flow cytometric assessment of LDL ligand function for detection of heterozygous familial defective apolipoprotein B-100. Raungaard, Bent; Heath, Finn; Hansen, Peter Steen; Brorholt-Petersen, Jens Uffe; Jensen, Henrik Kjae Feb 1, 2000 6896
Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from nonpathogenic polymorphisms. de la Hoya, Miguel; Diaz-Rubio, Eduardo; Caldes, Trinidad Nov 1, 1999 2371
Identification of germline mutations in hereditary nonpolyposis colorectal cancer using base excision sequence scanning analysis. Brieger, Angela; Trojan, Jorg; Raedle, Jochen; Roth, W. Kurt; Zeuzem, Stefan Sep 1, 1999 2259
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Chen, Tian-Jian; Boles, Richard G.; Wong, Lee-Jun C. Aug 1, 1999 3541
Type 2 diabetes: an overview. Lebovitz, Harold E. Clinical report Aug 1, 1999 5026
Genotyping method for point mutation detection in the intestinal fatty acid binding protein, using fluorescent probes. Galluzzi, Jennifer R.; Ordovas, Jose M. Jul 1, 1999 1302
Reference values and biological variation for tumor marker CA 19-9 in serum for different Lewis and secretor genotypes and evaluation of secretor and Lewis genotyping in a Caucasian population. Vestergaard, Else Marie; Hein, Hans Ole; Meyer, Harald; Grunnet, Niels; Jorgensen, Jan; Wolf, Hans; Jan 1, 1999 5599
K-ras gene mutations in the diagnosis of fine-needle aspirates of pancreatic masses: prospective study using two techniques with different detection limits. Mora, Josefina; Puig, Pere; Boadas, Jaume; Urgell, Eulalia; Montserrat, Enric; Lerma, Enrique; Gonza Clinical report Nov 1, 1998 4280
Genetic testing for Gilbert's syndrome: how useful is it in determining the cause of jaundice? Rudenski, Aram S.; Halsall, David J. Report Aug 1, 1998 3186
Identification and haplotype analysis of apolipoprotein B-100 [Arg.sub.3500] [right arrow] Trp mutation in hyperlipidemic Chinese. Tai, Der-Yan; Pan, Ju-Pin; Lee-Chen, Guey-Jen Aug 1, 1998 4663
Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR. Poropat, Renee A.; Nicholson, Garth A. Apr 1, 1998 4639
Methods for detection of point mutations: performance and quality assessment. Nollau, Peter; Wagener, Christoph Jul 1, 1997 11871
Rapid and large-scale method to detect K-ras gene mutations in tumor samples. Lopez-Crapez, Evelyne; Chypre, Camille; Saavedra, Jacqueline; Marchand, Joseph; Grenier, Jean Jun 1, 1997 4360
Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Siegelman, Mark; Mohabeer, Ajay; Fahey, Thomas J., III; Tomlinson, Gail; Mayambala, Chris; Jafari, S Mar 1, 1997 3453
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA I by PCR-mediated site-directed mutagenesis. Rohlfs, Elizabeth M.; Learning, William G.; Friedman, Kenneth J.; Couch, Fergus J.; Weber, Barbara L Jan 1, 1997 3649

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