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Items: 9

1.

Pillars article: Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999. 286: 1957-1959.

Stepp SE, Dufourcq-Lagelouse R, Kumar V.

J Immunol. 2015 Jun 1;194(11):5044-6. No abstract available.

2.

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V.

Science. 1999 Dec 3;286(5446):1957-9.

3.

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.

Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G.

Eur J Hum Genet. 1999 Sep;7(6):633-7.

4.

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.

Int J Mol Med. 1999 Aug;4(2):127-33. Review.

PMID:
10402477
5.

[Genetic defects in control of T cell activation evolving in a syndrome of lymphohistiocytic activation].

Dufourcq-Lagelouse R, Pastural E, Barrat FJ, Le Deist F, Fischer A, de Saint Basile G.

Arch Pediatr. 1999;6 Suppl 2:417s-419s. French. No abstract available.

PMID:
10370555
6.

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

Dufourcq-Lagelouse R, Jabado N, Le Deist F, St├ęphan JL, Souillet G, Bruin M, Vilmer E, Schneider M, Janka G, Fischer A, de Saint Basile G.

Am J Hum Genet. 1999 Jan;64(1):172-9.

7.

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF.

Hum Mol Genet. 1997 Jul;6(7):1091-8.

8.

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.

Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G.

Nat Genet. 1997 Jul;16(3):289-92. Erratum in: Nat Genet 1999 Nov;23(3):373.

PMID:
9207796
9.

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