Stasia MJ - Search Results

1

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J, Barlogis V, Catho G, Dumeril C, Fouyssac F, Monnier D, Gandemer V, Revest M, Brion JP, Bost-Bru C, Jeziorski E, Eitenschenck L, Jarrasse C, Drillon Haus S, Houachée-Chardin M, Hancart M, Michel G, Bertrand Y, Plantaz D, Kelecic J, Traberg R, Kainulainen L, Fauré J, Fieschi F, Stasia MJ. Mollin M, et al. Among authors: stasia mj. Clin Exp Immunol. 2021 Feb;203(2):247-266. doi: 10.1111/cei.13520. Epub 2020 Oct 12. Clin Exp Immunol. 2021. PMID: 32954498 Free PMC article.

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. 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

Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB.

Stasia MJ, Brion JP, Boutonnat J, Morel F. Stasia MJ, et al. J Infect Dis. 2003 Nov 15;188(10):1593-604. doi: 10.1086/379035. Epub 2003 Nov 4. J Infect Dis. 2003. PMID: 14624387

4

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Bionda C, Li XJ, van Bruggen R, Eppink M, Roos D, Morel F, Stasia MJ. Bionda C, et al. Among authors: stasia mj. Hum Genet. 2004 Oct;115(5):418-27. doi: 10.1007/s00439-004-1173-z. Epub 2004 Aug 24. Hum Genet. 2004. PMID: 15338276 Free article.

5

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. 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

6

Gene symbol: CYBB. Disease: X-linked chronic granulomatous disease.

Stasia MJ. Stasia MJ. Hum Genet. 2005 Feb;116(3):236. Hum Genet. 2005. PMID: 15818813 No abstract available.

7

Leu505 of Nox2 is crucial for optimal p67phox-dependent activation of the flavocytochrome b558 during phagocytic NADPH oxidase assembly.

Li XJ, Fieschi F, Paclet MH, Grunwald D, Campion Y, Gaudin P, Morel F, Stasia MJ. Li XJ, et al. Among authors: stasia mj. J Leukoc Biol. 2007 Jan;81(1):238-49. doi: 10.1189/jlb.0905541. Epub 2006 Oct 23. J Leukoc Biol. 2007. PMID: 17060362

8

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ, Li XJ. Stasia MJ, et al. Semin Immunopathol. 2008 Jul;30(3):209-35. doi: 10.1007/s00281-008-0121-8. Epub 2008 May 29. Semin Immunopathol. 2008. PMID: 18509647 Review.

9

[Chronic-granulomatous disease].

Stasia MJ, Cathebras P, Lutz MF, Durieu I. Stasia MJ, et al. Rev Med Interne. 2009 Mar;30(3):221-32. doi: 10.1016/j.revmed.2008.05.023. Epub 2008 Jul 21. Rev Med Interne. 2009. PMID: 18640747 Review. French.

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: stasia mj. 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

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

73 results

Search Page

Filters