Martel C - Search Results

1

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.

Stasia MJ, Bordigoni P, Martel C, Morel F. Stasia MJ, et al. Among authors: martel c. Hum Genet. 2002 May;110(5):444-50. doi: 10.1007/s00439-002-0720-8. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073015

2

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

Stasia MJ, Lardy B, Maturana A, Rousseau P, Martel C, Bordigoni P, Demaurex N, Morel F. Stasia MJ, et al. Among authors: martel c. Biochim Biophys Acta. 2002 Apr 24;1586(3):316-30. doi: 10.1016/s0925-4439(01)00110-7. Biochim Biophys Acta. 2002. PMID: 11997083 Free article.

3

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.

Stasia MJ, Bordigoni P, Floret D, Brion JP, Bost-Bru C, Michel G, Gatel P, Durant-Vital D, Voelckel MA, Li XJ, Guillot M, Maquet E, Martel C, Morel F. Stasia MJ, et al. Among authors: martel c. Hum Genet. 2005 Jan;116(1-2):72-82. doi: 10.1007/s00439-004-1208-5. Epub 2004 Nov 6. Hum Genet. 2005. PMID: 15538631

4

A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils.

Defendi F, Decleva E, Martel C, Dri P, Stasia MJ. Defendi F, et al. Among authors: martel c. Biochim Biophys Acta. 2009 Mar;1792(3):201-10. doi: 10.1016/j.bbadis.2009.01.005. Biochim Biophys Acta. 2009. PMID: 19708127 Free article.

5

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.

Stasia MJ, van Leeuwen K, de Boer M, Martel C, Mollin M, Thuret I, Michel G, Hanson C, Augustine NH, Coutton C, Satre V, Wittwer CT, Hill H, Roos D. Stasia MJ, et al. Among authors: martel c. J Clin Immunol. 2012 Aug;32(4):653-62. doi: 10.1007/s10875-012-9667-2. Epub 2012 Mar 2. J Clin Immunol. 2012. PMID: 22382877

6

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D. Stasia MJ, et al. Among authors: martel c. Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340515 Free PMC article.

7

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. Martel C, et al. J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. J Clin Immunol. 2012. PMID: 22562447

8

The O2- generating oxidase of B lymphocytes: Epstein-Barr virus-immortalized B lymphocytes as a tool for the identification of defective components of the oxidase in chronic granulomatous disease.

Morel F, Cohen Tanugi Cholley L, Brandolin G, Dianoux AC, Martel C, Champelovier P, Seigneurin JM, Francois P, Bost M, Vignais PV. Morel F, et al. Among authors: martel c. Biochim Biophys Acta. 1993 Aug 4;1182(1):101-9. doi: 10.1016/0925-4439(93)90159-x. Biochim Biophys Acta. 1993. PMID: 8394141

9

Biochemical and immunochemical properties of B lymphocyte cytochrome b558.

Batot G, Paclet MH, Doussière J, Vergnaud S, Martel C, Vignais PV, Morel F. Batot G, et al. Among authors: martel c. Biochim Biophys Acta. 1998 Mar 5;1406(2):188-202. doi: 10.1016/s0925-4439(98)00004-0. Biochim Biophys Acta. 1998. PMID: 9573361 Free article.

10

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

Bakri FG, Martel C, Khuri-Bulos N, Mahafzah A, El-Khateeb MS, Al-Wahadneh AM, Hayajneh WA, Hamamy HA, Maquet E, Molin M, Stasia MJ. Bakri FG, et al. Among authors: martel c. J Clin Immunol. 2009 Mar;29(2):215-30. doi: 10.1007/s10875-008-9243-y. Epub 2008 Sep 5. J Clin Immunol. 2009. PMID: 18773283

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