Moshous D - 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. Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9. Cell. 2001. PMID: 11336668 Free article.

2

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: moshous d. 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.

3

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. Hum Mol Genet. 2000 Mar 1;9(4):583-8. doi: 10.1093/hmg/9.4.583. Hum Mol Genet. 2000. PMID: 10699181

4

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: moshous d. 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.

5

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: moshous d. Blood. 2001 May 1;97(9):2772-6. doi: 10.1182/blood.v97.9.2772. Blood. 2001. PMID: 11313270 Free article.

6

Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

Fernandes JF, Rocha V, Labopin M, Neven B, Moshous D, Gennery AR, Friedrich W, Porta F, Diaz de Heredia C, Wall D, Bertrand Y, Veys P, Slatter M, Schulz A, Chan KW, Grimley M, Ayas M, Gungor T, Ebell W, Bonfim C, Kalwak K, Taupin P, Blanche S, Gaspar HB, Landais P, Fischer A, Gluckman E, Cavazzana-Calvo M; Eurocord and Inborn Errors Working Party of European Group for Blood and Marrow Transplantation. Fernandes JF, et al. Among authors: moshous d. Blood. 2012 Mar 22;119(12):2949-55. doi: 10.1182/blood-2011-06-363572. Epub 2012 Feb 3. Blood. 2012. PMID: 22308292 Free article.

7

Severe chronic primary neutropenia in adults: report on a series of 108 patients.

Sicre de Fontbrune F, Moignet A, Beaupain B, Suarez F, Galicier L, Socié G, Varet B, Coppo P, Michel M, Pautas C, Oksenhendler E, Lengline E, Terriou L, Moreau P, Chantepie S, Casadevall N, Michot JM, Gardembas M, Michallet M, Croisille L, Audrain M, Bellanné-Chantelot C, Donadieu J, Lamy T; French Severe Chronic Neutropenia Registry. Sicre de Fontbrune F, et al. Blood. 2015 Oct 1;126(14):1643-50. doi: 10.1182/blood-2015-03-634493. Epub 2015 Aug 10. Blood. 2015. PMID: 26261239 Free article.

8

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group. Mahlaoui N, et al. J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. J Allergy Clin Immunol. 2019. PMID: 30639347 No abstract available.

9

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.

Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, Kauskot A, Repérant C, Feng M, Bordet JC, Castelle M, Morelle G, Brouzes C, Zarhrate M, Panikulam P, Lambert N, Picard C, Bodet D, Rouger-Gaudichon J, Revy P, de Villartay JP, Moshous D. Benavides-Nieto M, et al. Among authors: moshous d. J Clin Invest. 2024 Jul 11;134(17):e169994. doi: 10.1172/JCI169994. J Clin Invest. 2024. PMID: 39225097 Free PMC article.

10

The French national registry of primary immunodeficiency diseases.

CEREDIH: The French PID study group. CEREDIH: The French PID study group. Clin Immunol. 2010 May;135(2):264-72. doi: 10.1016/j.clim.2010.02.021. Clin Immunol. 2010. PMID: 20399414

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