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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. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Among authors: fontaine b. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Dürr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme JF, Penet C, Mas JL, Burgunder JM, Hazan J, Weissenbach J, Brice A, Fontaine B. Dürr A, et al. Among authors: fontaine b. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574
Diseases caused by voltage-gated ion channels.
Fontaine B, Plassart-Schiess E, Nicole S. Fontaine B, et al. Mol Aspects Med. 1997 Dec;18(6):415-63. doi: 10.1016/s0098-2997(97)00050-2. Mol Aspects Med. 1997. PMID: 9561513 Review.
479 results