Costa C - Search Results

1

Real-time PCR coupled with automated DNA extraction and detection of galactomannan antigen in serum by enzyme-linked immunosorbent assay for diagnosis of invasive aspergillosis.

Costa C, Costa JM, Desterke C, Botterel F, Cordonnier C, Bretagne S. Costa C, et al. Among authors: costa jm. J Clin Microbiol. 2002 Jun;40(6):2224-7. doi: 10.1128/JCM.40.6.2224-2227.2002. J Clin Microbiol. 2002. PMID: 12037092 Free PMC article.

2

Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations.

Costa C, Costa JM, Deleuze JF, Legrand A, Hadchouel M, Baussan C. Costa C, et al. Among authors: costa jm. Clin Chem. 1998 May;44(5):1041-3. Clin Chem. 1998. PMID: 9590379 No abstract available.

3

Quantitative real-time PCR assay for rapid identification of deletion carriers in hemophilia.

Costa C, Jouannic JM, Stieltjes N, Costa JM, Girodon E, Goossens M. Costa C, et al. Among authors: costa jm. Clin Chem. 2004 Jul;50(7):1269-70. doi: 10.1373/clinchem.2004.031609. Clin Chem. 2004. PMID: 15229165 No abstract available.

4

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

Costa C, Costa JM, Martin J, Boissier B, Goossens M, Girodon E. Costa C, et al. Among authors: costa jm. Clin Chem. 2008 Sep;54(9):1564-7. doi: 10.1373/clinchem.2008.103259. Clin Chem. 2008. PMID: 18755906 Free PMC article.

5

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M. Costa C, et al. Among authors: costa jm. Mol Genet Metab. 2003 Jan;78(1):68-73. doi: 10.1016/s1096-7192(02)00205-6. Mol Genet Metab. 2003. PMID: 12559850

6

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repessé Y, Slaoui M, Ferrandiz D, Gautier P, Costa C, Costa JM, Lavergne JM, Borel-Derlon A. Repessé Y, et al. Among authors: costa c, costa jm. J Thromb Haemost. 2007 Jul;5(7):1469-76. doi: 10.1111/j.1538-7836.2007.02591.x. Epub 2007 Apr 18. J Thromb Haemost. 2007. PMID: 17445092 Free article.

7

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

Costa C, Costa JM, Nuoffer JM, Slama A, Boutron A, Saudubray JM, Legrand A, Brivet M. Costa C, et al. Among authors: costa jm. J Inherit Metab Dis. 1999 May;22(3):267-70. doi: 10.1023/a:1005590223680. J Inherit Metab Dis. 1999. PMID: 10384384 No abstract available.

8

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.

Costa C, Pissard S, Girodon E, Huot D, Goossens M. Costa C, et al. Mol Diagn. 2003;7(1):45-8. doi: 10.1007/BF03260020. Mol Diagn. 2003. PMID: 14529320

9

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J. Gruber A, et al. Among authors: costa c. Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689. Clin Chem Lab Med. 2018. PMID: 29613853

10

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Costa C, Albuisson J, Le TH, Max-Audit I, Dinh KT, Tosi M, Goossens M, Pissard S. Costa C, et al. Haematologica. 2005 Jan;90(1):25-30. Haematologica. 2005. PMID: 15642665

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