Costa C - Search Results

1

Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling.

Costa C, Frances AM, Letourneau S, Girodon-Boulandet E, Goossens M. Costa C, et al. J Thromb Haemost. 2009 Feb;7(2):367-9. doi: 10.1111/j.1538-7836.2008.03246.x. Epub 2008 Dec 1. J Thromb Haemost. 2009. PMID: 19054320 Free PMC article. No abstract available.

2

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.

3

Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge.

Costa C, Goossens M, Girodon E. Costa C, et al. Clin Chem. 2006 Aug;52(8):1621-2; author reply 1622. doi: 10.1373/clinchem.2005.065383. Clin Chem. 2006. PMID: 16873311 No abstract available.

4

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.

Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: costa c. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712

5

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

6

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

7

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.

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

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

4,572 results

Search Page

Filters