Ménasché G - Search Results

1

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Côte M, et al. Among authors: menasche g. J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. J Clin Invest. 2009. PMID: 19884660 Free PMC article.

2

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Ménasché G, et al. Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024. Nat Genet. 2000. PMID: 10835631

3

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.

Sanal O, Ersoy F, Tezcan I, Metin A, Yel L, Ménasché G, Gürgey A, Berkel I, de Saint Basile G. Sanal O, et al. Among authors: menasche g. J Clin Immunol. 2002 Jul;22(4):237-43. doi: 10.1023/a:1016045026204. J Clin Immunol. 2002. PMID: 12148598

4

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. 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.

5

Griscelli syndrome types 1 and 2.

Ménasché G, Fischer A, de Saint Basile G. Ménasché G, et al. Am J Hum Genet. 2002 Nov;71(5):1237-8; author reply 1238. doi: 10.1086/344140. Am J Hum Genet. 2002. PMID: 12452176 Free PMC article. No abstract available.

6

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. J Clin Invest. 2003 Aug;112(3):450-6. doi: 10.1172/JCI18264. J Clin Invest. 2003. PMID: 12897212 Free PMC article.

7

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Bizario JC, et al. Among authors: menasche g. J Clin Immunol. 2004 Jul;24(4):397-410. doi: 10.1023/B:JOCI.0000029119.83799.cb. J Clin Immunol. 2004. PMID: 15163896

8

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. Among authors: menasche g. 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.

9

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. Immunol Rev. 2005 Feb;203:165-79. doi: 10.1111/j.0105-2896.2005.00224.x. Immunol Rev. 2005. PMID: 15661029 Review.

10

[Defect in lytic granule exocytosis: several causes, a same effect].

Ménasché G, Ménager M, Le Deist F, Fischer A, de Saint Basile G. Ménasché G, et al. Med Sci (Paris). 2006 Aug-Sep;22(8-9):733-8. doi: 10.1051/medsci/20062289733. Med Sci (Paris). 2006. PMID: 16962048 Free article. Review. French.

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