Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda

Autor: Gécz, Jozef, Hillman, Marie A., Gedeon, Agi K., Cox, Timothy C., Baker, Elizabeth, Mulley, John C.

Publikováno v: In Genomics 15 October 2000 69(2):242-251

Identification of the gene FMR2, associated with FRAXE mental retardation.

Autor: Gecz, Jozef, Gedeon, Agi K., Sutherland, Grant R., Mulley, John C.

Publikováno v: Nature Genetics; May1996, Vol. 13 Issue 1, p105-108, 4p

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Agi K. Gedeon and John Nelson contributed equally to this work.

Autor: Gedeon, Agi K., Nelson, John

Publikováno v: American Journal of Medical Genetics. Part A; 1 August 2003, Vol. 120 Issue: 4 p509-517, 9p

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85

Autor: Gedeon, Agi K., Oley, Christine, Nelson, John, Turner, Gillian, Mulley, J.C.

Publikováno v: American Journal of Medical Genetics. Part A; 12 February 1999, Vol. 82 Issue: 4 p352-354, 3p

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Autor: Lower KM; Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia., Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J

Publikováno v: Nature genetics [Nat Genet] 2002 Dec; Vol. 32 (4), pp. 661-5. Date of Electronic Publication: 2002 Nov 04.