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Journal Abstract Search

196 related items for PubMed ID: 19318026

  • 1. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
    Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R.
    Clin Biochem; 2009 Jun; 42(9):892-8. PubMed ID: 19318026
    [Abstract] [Full Text] [Related]

  • 2. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
    Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R.
    Eur J Med Genet; 2011 Jun; 54(6):e570-5. PubMed ID: 21846512
    [Abstract] [Full Text] [Related]

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  • 4. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
    Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson RB, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ.
    J Clin Pathol; 2005 May; 58(5):479-85. PubMed ID: 15858117
    [Abstract] [Full Text] [Related]

  • 5. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
    Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C.
    Basic Res Cardiol; 2009 Jan; 104(1):90-9. PubMed ID: 18795223
    [Abstract] [Full Text] [Related]

  • 6. High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
    Lo FS, Luo JD, Lee YJ, Shu SG, Kuo MT, Chiou CC.
    Clin Chim Acta; 2009 Nov; 409(1-2):75-7. PubMed ID: 19737548
    [Abstract] [Full Text] [Related]

  • 7. Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography.
    Taylor MR, Robinson ML, Mestroni L.
    J Biomol Screen; 2004 Oct; 9(7):625-8. PubMed ID: 15475483
    [Abstract] [Full Text] [Related]

  • 8. Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
    Millat G, Chanavat V, Créhalet H, Rousson R.
    Clin Chim Acta; 2011 Jan 14; 412(1-2):203-7. PubMed ID: 20851114
    [Abstract] [Full Text] [Related]

  • 9. High resolution melting for mutation scanning of TP53 exons 5-8.
    Krypuy M, Ahmed AA, Etemadmoghadam D, Hyland SJ, Australian Ovarian Cancer Study Group, DeFazio A, Fox SB, Brenton JD, Bowtell DD, Dobrovic A.
    BMC Cancer; 2007 Aug 31; 7():168. PubMed ID: 17764544
    [Abstract] [Full Text] [Related]

  • 10. NF1 gene analysis based on DHPLC.
    De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B.
    Hum Mutat; 2003 Feb 31; 21(2):171-2. PubMed ID: 12552569
    [Abstract] [Full Text] [Related]

  • 11. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
    van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP, Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands.
    Am Heart J; 2007 Dec 31; 154(6):1130-9. PubMed ID: 18035086
    [Abstract] [Full Text] [Related]

  • 12. Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
    Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B.
    Hum Mutat; 2002 Mar 31; 19(3):287-95. PubMed ID: 11857746
    [Abstract] [Full Text] [Related]

  • 13. Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System.
    Grievink H, Stowell KM.
    Anal Biochem; 2008 Mar 15; 374(2):396-404. PubMed ID: 18082125
    [Abstract] [Full Text] [Related]

  • 14. Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
    Laurie AD, George PM.
    Clin Biochem; 2009 Apr 15; 42(6):528-35. PubMed ID: 19118540
    [Abstract] [Full Text] [Related]

  • 15. Laminopathies in Russian families.
    Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK.
    Clin Genet; 2008 Aug 15; 74(2):127-33. PubMed ID: 18564364
    [Abstract] [Full Text] [Related]

  • 16. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.
    Crépin M, Pigny P, Escande F, Bauters CC, Calender A, Lefevre S, Buisine MP, Porchet N, Odou MF.
    J Mol Endocrinol; 2006 Apr 15; 36(2):369-76. PubMed ID: 16595707
    [Abstract] [Full Text] [Related]

  • 17. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
    Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.
    Clin Endocrinol (Oxf); 2008 Jul 15; 69(1):61-8. PubMed ID: 18031308
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
    Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R.
    Hum Mutat; 2000 Aug 15; 16(2):177. PubMed ID: 10923042
    [Abstract] [Full Text] [Related]

  • 19. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
    Posteraro P, Pascucci M, Colombi M, Barlati S, Giannetti A, Paradisi M, Mustonen A, Zambruno G, Castiglia D.
    Biochem Biophys Res Commun; 2005 Dec 23; 338(3):1391-401. PubMed ID: 16271705
    [Abstract] [Full Text] [Related]

  • 20. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.
    Chou LS, Lyon E, Wittwer CT.
    Am J Clin Pathol; 2005 Sep 23; 124(3):330-8. PubMed ID: 16191501
    [Abstract] [Full Text] [Related]

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