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Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.
Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Fontaine B, et al. Among authors: ponsot g. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Crow YJ, et al. Among authors: ponsot g. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845398
Interferon gamma in acute and subacute encephalitis.
Lebon P, Boutin B, Dulac O, Ponsot G, Arthuis M. Lebon P, et al. Among authors: ponsot g. Br Med J (Clin Res Ed). 1988 Jan 2;296(6614):9-11. doi: 10.1136/bmj.296.6614.9. Br Med J (Clin Res Ed). 1988. PMID: 2827836 Free PMC article.
Soluble IL-2 receptors in acute and subacute encephalitis.
Boutin B, Matsuguchi L, Lebon P, Ponsot G, Arthuis M, Nelson DL. Boutin B, et al. Among authors: ponsot g. Ann Neurol. 1987 Nov;22(5):658-61. doi: 10.1002/ana.410220518. Ann Neurol. 1987. PMID: 3122647
170 results