Mutations in GDI1 are responsible for X-linked non-specific mental retardation von Toniolo, Daniela, D'Adamo, Patrizia, Menegon, Andrea, Lo Nigro, Cristiana, Grasso, Marina, Gulisano, Massimo, Tamanini, Filippo, Bienvenu, Thierry, Gedeon, Agi K, Oostra, Ben, Wu, Shih-Kwang, Tandon, Anurag, Valtorta, Flavia, Balch, William E, Chelly, Jamel

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Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda von Gécz, Jozef, Colley, Alison, Tiller, George E, Rogers, John, Gedeon, Ági K, Jamieson, Robyn, Sillence, David, Thompson, Elizabeth M, Mulley, John C

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda von Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

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Identification of the gene FMR2 , associated with FRAXE mental retardation von Gecz, Jozef, Gedeon, Agi K, Sutherland, Grant R, Mulley, John C

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy von Lower, Karen M, Lütcherath, Viggo, Gécz, Jozef, Frints, Suzanna G.M, Partington, Michael, Strømme, Petter, Scheffer, Ingrid E, Gedeon, Ági K, Lewis, Suzanne M.E, Turner, Gillian, Fryns, Jean-Pierre, Sutherland, Grant R, Wallace, Robyn H, Mangelsdorf, Marie E, Shaw, Marie A, Mulley, John C, Bruyere, Helene

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Fragile X syndrome without CCG amplification has an FMR1 deletion von Gedeon, A.K, Baker, E, Robinson, H, Partington, M.W, Gross, B, Manca, A, Korn, B, Poustka, A, Yu, S, Sutherland 1, G.R, Mulley, J.C

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A novel X-linked gene, G4.5. is responsible for Barth syndrome von Bione, S, D'Adamo, P, Maestrini, E, Gedeon, A K, Bolhuis, P A, Toniolo, D

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Genotype-phenotype relationships in fragile X syndrome : a family study von LOESCH, D. Z, HUGGINS, R, HAY, D. A, GEDEON, A. K, MULLEY, J. C, SUTHERLAND, G. R

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FRAXE and mental retardation von Mulley, J C, Yu, S, Loesch, D Z, Hay, D A, Donnelly, A, Gedeon, A K, Carbonell, P, López, I, Glover, G, Gabarrón, I

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X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome von Gedeon, A K, Wilson, M J, Colley, A C, Sillence, D O, Mulley, J C

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Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders : identification of a gene near FRAXE von GEDEON, A. K, KEINÄNEN, M, ADES, L. C, KÄÄRIÄINEN, H, GECZ, J, BAKER, E, SUTHERLAND, G. R, MULLEY, J. C

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A Linkage Map of Microsatellite Markers on the Human X Chromosome von Donnelly, A., Kozman, H., Gedeon, A.K., Webb, S., Lynch, M., Sutherland, G.R., Richards, R.I., Mulley, J.C.

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X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3 von Gedeon, Agi K., Nelson, John, Gécz, Jozef, Mulley, John C.

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Refined genetic localization for central core disease von MULLEY, J. C, KOZMAN, H. M, HAAN, E. A, PHILLIPS, H. A, GEDEON, A. K, MCCURE, J. A, ILES, D. E, GREGG, R. G, HOGAN, K, COUCH, F. J, MACLENNAN, D. H

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Experience with direct molecular diagnosis of fragile X von Mulley, J C, Yu, S, Gedeon, A K, Donnelly, A, Turner, G, Loesch, D, Chapman, C J, Gardner, R J, Richards, R I, Sutherland, G R

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A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda von Tiller, George E., Hannig, Vickie L., Dozier, Damon, Carrel, Laura, Trevarthen, Karrie C., Wilcox, William R., Mundlos, Stefan, Haines, Jonathan L., Gedeon, Agi K., Gecz, Jozef

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Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda von Gécz, Jozef, Hillman, Marie A., Gedeon, Agi K., Cox, Timothy C., Baker, Elizabeth, Mulley, John C.

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Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26 von GEDEON, A. K, RICHARDS, R. I, MULLEY, J. C

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Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers von Mulley, J C, Gedeon, A K, White, S J, Haan, E A, Richards, R I

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Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1 von Kozman, H.M., Gedeon, A.K., Whitmore, S., Suthers, G.K., Callen, D.F., Sutherland, G.R., Mulley, J.C.

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