Fischer A - Search Results

1

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. Moshous D, et al. Among authors: fischer a. Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9. Cell. 2001. PMID: 11336668 Free article.

2

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts.

Nicolas N, Finnie NJ, Cavazzana-Calvo M, Papadopoulo D, Le Deist F, Fischer A, Jackson SP, de Villartay JP. Nicolas N, et al. Among authors: fischer a. Eur J Immunol. 1996 May;26(5):1118-22. doi: 10.1002/eji.1830260524. Eur J Immunol. 1996. PMID: 8647176

3

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.

Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F, Fischer A, de Villartay JP. Nicolas N, et al. Among authors: fischer a. J Exp Med. 1998 Aug 17;188(4):627-34. doi: 10.1084/jem.188.4.627. J Exp Med. 1998. PMID: 9705945 Free PMC article.

4

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.

Moshous D, Li L, Chasseval R, Philippe N, Jabado N, Cowan MJ, Fischer A, de Villartay JP. Moshous D, et al. Among authors: fischer a. Hum Mol Genet. 2000 Mar 1;9(4):583-8. doi: 10.1093/hmg/9.4.583. Hum Mol Genet. 2000. PMID: 10699181

5

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP. Corneo B, et al. Among authors: fischer a. J Biol Chem. 2000 Apr 28;275(17):12672-5. doi: 10.1074/jbc.275.17.12672. J Biol Chem. 2000. PMID: 10777560 Free article.

6

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP. Corneo B, et al. Among authors: fischer a. Blood. 2001 May 1;97(9):2772-6. doi: 10.1182/blood.v97.9.2772. Blood. 2001. PMID: 11313270 Free article.

7

Gene therapy of severe combined immunodeficiencies.

Cavazzana-Calvo M, Hacein-Bey S, Yates F, de Villartay JP, Le Deist F, Fischer A. Cavazzana-Calvo M, et al. Among authors: fischer a. J Gene Med. 2001 May-Jun;3(3):201-6. doi: 10.1002/1521-2254(200105/06)3:3<201::AID-JGM195>3.0.CO;2-Z. J Gene Med. 2001. PMID: 11437325 Review.

8

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, de Villartay JP. Rieux-Laucat F, et al. Among authors: fischer a. Science. 1995 Jun 2;268(5215):1347-9. doi: 10.1126/science.7539157. Science. 1995. PMID: 7539157

9

Around the V(D)J recombinase machinery.

de Villartay JP, Rieux-Laucat F, Fischer A. de Villartay JP, et al. Among authors: fischer a. Res Immunol. 1994 Feb;145(2):151-4; discussion 155-8. doi: 10.1016/s0923-2494(94)80030-8. Res Immunol. 1994. PMID: 8079049 Review. No abstract available.

10

Normal T cell receptor V beta usage in a primary immunodeficiency associated with HLA class II deficiency.

Rieux-Laucat F, Le Deist F, Selz F, Fischer A, de Villartay JP. Rieux-Laucat F, et al. Among authors: fischer a. Eur J Immunol. 1993 Apr;23(4):928-34. doi: 10.1002/eji.1830230425. Eur J Immunol. 1993. PMID: 8096185

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