Costa C - Search Results

1

Combined polymorphisms of tumour necrosis factor alpha and interleukin-10 genes in patients with alcoholic hepatitis.

Richardet JP, Scherman E, Costa C, Campillo B, Bories PN. Richardet JP, et al. Among authors: costa c. Eur J Gastroenterol Hepatol. 2006 Jun;18(6):673-9. doi: 10.1097/00042737-200606000-00015. Eur J Gastroenterol Hepatol. 2006. PMID: 16702858

2

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.

3

A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

Niel F, Legendre M, Bienvenu T, Bieth E, Lalau G, Sermet I, Bondeux D, Boukari R, Derelle J, Levy P, Ruszniewski P, Martin J, Costa C, Goossens M, Girodon E. Niel F, et al. Among authors: costa c. Hum Mutat. 2006 Jul;27(7):716-7. doi: 10.1002/humu.9431. Hum Mutat. 2006. PMID: 16786510

4

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

de Becdelièvre A, Costa C, LeFloch A, Legendre M, Jouannic JM, Vigneron J, Bresson JL, Gobin S, Martin J, Goossens M, Girodon E. de Becdelièvre A, et al. Among authors: costa c. Eur J Hum Genet. 2010 Oct;18(10):1166-9. doi: 10.1038/ejhg.2010.80. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512161 Free PMC article.

5

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

Ratbi I, Génin E, Legendre M, Le Floch A, Costa C, Cherkaoui-Deqqaqi S, Goossens M, Sefiani A, Girodon E. Ratbi I, et al. Among authors: costa c. J Cyst Fibros. 2008 Sep;7(5):440-3. doi: 10.1016/j.jcf.2007.12.006. Epub 2008 Feb 1. J Cyst Fibros. 2008. PMID: 18243066 Free article.

6

Defects in activation and transport of fatty acids.

Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP. Brivet M, et al. Among authors: costa c. J Inherit Metab Dis. 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301. J Inherit Metab Dis. 1999. PMID: 10407779 Review.

7

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

8

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

9

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

de Becdelièvre A, Costa C, Jouannic JM, LeFloch A, Giurgea I, Martin J, Médina R, Boissier B, Gameiro C, Muller F, Goossens M, Alberti C, Girodon E. de Becdelièvre A, et al. Among authors: costa c. Hum Genet. 2011 Apr;129(4):387-96. doi: 10.1007/s00439-010-0933-1. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184098

10

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Ratbi I, et al. Among authors: costa c. Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28. Hum Reprod. 2007. PMID: 17329263

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