Feldmann J - Search Results

1

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G. Neven B, et al. Among authors: feldmann j. Blood. 2004 Apr 1;103(7):2809-15. doi: 10.1182/blood-2003-07-2531. Epub 2003 Nov 20. Blood. 2004. PMID: 14630794 Free article.

2

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G. Feldmann J, et al. Am J Hum Genet. 2002 Jul;71(1):198-203. doi: 10.1086/341357. Epub 2002 May 24. Am J Hum Genet. 2002. PMID: 12032915 Free PMC article.

3

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G. Menasche G, et al. Among authors: feldmann j. Blood. 2003 Apr 1;101(7):2736-42. doi: 10.1182/blood-2002-09-2789. Epub 2002 Nov 21. Blood. 2003. PMID: 12446441 Free article.

4

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.

Feldmann J, Ménasché G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint Basile G. Feldmann J, et al. Blood. 2005 Apr 1;105(7):2658-63. doi: 10.1182/blood-2004-09-3590. Epub 2004 Dec 14. Blood. 2005. PMID: 15598808 Free article.

5

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.

6

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.

Ménasché G, Feldmann J, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: feldmann j. Immunol Rev. 2005 Feb;203:165-79. doi: 10.1111/j.0105-2896.2005.00224.x. Immunol Rev. 2005. PMID: 15661029 Review.

7

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G. Feldmann J, et al. Br J Haematol. 2002 Jun;117(4):965-72. doi: 10.1046/j.1365-2141.2002.03534.x. Br J Haematol. 2002. PMID: 12060139 Free article.

8

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: feldmann j. J Clin Invest. 2003 Aug;112(3):450-6. doi: 10.1172/JCI18264. J Clin Invest. 2003. PMID: 12897212 Free PMC article.

9

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

Dufourcq-Lagelouse R, Pastural E, Barrat FJ, Feldmann J, Le Deist F, Fischer A, De Saint Basile G. Dufourcq-Lagelouse R, et al. Among authors: feldmann j. Int J Mol Med. 1999 Aug;4(2):127-33. doi: 10.3892/ijmm.4.2.127. Int J Mol Med. 1999. PMID: 10402477 Review.

10

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.

Barrat FJ, Le Deist F, Benkerrou M, Bousso P, Feldmann J, Fischer A, de Saint Basile G. Barrat FJ, et al. Among authors: feldmann j. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8645-50. doi: 10.1073/pnas.96.15.8645. Proc Natl Acad Sci U S A. 1999. PMID: 10411929 Free PMC article.

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