A novel X-linked gene, G4.5 . is responsible for Barth syndrome von Bione, Silvia, D'Adamo, Patrizia, Maestrini, Elena, Gedeon, Agi K, Bolhuis, Pieter A, Toniolo, Daniela

Volltext

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

Volltext

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

Volltext

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.

Volltext

Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome von de Vries, Bert B. A, Ross, Shelley, Gécz, Jozef, Grompe, Markus, Clayton-Smith, Jill, Stewart, Helen, Lampe, Anne K, Gedeon, Ági K, White, Susan M, Thomas, Paul, Mulley, John C, Lower, Karen M, Turner, Gillian, Mathews, Katherine D, Schelley, Susan, van Ravenswaay, Conny M. A, Kerr, Bronwyn A, Shaw, Marie A, Hoyme, H. Eugene, Delatycki, Martin B, Cox, Barbara

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome von Lower, K M, Turner, G, Kerr, BA, Mathews, K D, Shaw, MA, Gedeon, A K, Schelley, S, Hoyme, HE, White, S M, Delatycki, M B, Lampe, A K, Clayton-Smith, J, Stewart, H, Gecz, J

Volltext

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy von Mulley, JohnC, Staples, Alan, Donnelly, Andrew, Gedeon, AgiK, Hecht, BarbaraK, Nicholson, GarthA, Haan, EricA, Sutherland, GrantR

Volltext

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal toDXS85 von Gedeon, Agi K., Oley, Christine, Nelson, John, Turner, Gillian, Mulley, J.C.

Volltext

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85 von Gedeon, Agi K., Oley, Christine, Nelson, John, Turner, Gillian, Mulley, J.C.

Volltext

Letter to the editor: How many X-linked genes for non-specific mental retardation (MRX) are there? von Gedeon, Agi K., Donnelly, Andrew J., Mulley, John C., Kerr, Bronwyn, Turner, Gillian

Volltext

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22 von Donnelly, Andrew J., Choo, K. H. Andy, Kozman, Helen M., Gedeon, Agi K., Danks, David M., Mulley, John C.

Volltext

Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci von Gedeon, Agi K., Holman, Kathy, Richards, Robert I., Mulley, John C.

Volltext

Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14 von Mulley, John C., Gedeon, Agi K., Thorn, Kerry A., Bates, Lyndall J., Sutherland, Grant R., Opitz, John M., Reynolds, James F.

Volltext

Use of linkage data obtained in single families: Prenatal diagnosis of a new X-linked mental retardation syndrome von Mulley, John C., Gedeon, Agi K., Wilson, Sue, Haan, Eric A.

Volltext

X Chromosome Inactivation in Carriers of Barth Syndrome von Ørstavik, Karen Helene, Ørstavik, Ragnhild E., Naumova, Anna K., D'Adamo, Patrizia, Gedeon, Agi, Bolhuis, Pieter A., Barth, Peter G., Toniolo, Daniela

Volltext

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies von D'Adamo, Patrizia, Fassone, Lucia, Gedeon, Agi, Janssen, Emiel A.M., Bione, Silvia, Bolhuis, Pieter A., Barth, Peter G., Wilson, Meredith, Haan, Eric, Örstavik, Karen Helen, Patton, Michael A., Green, Andrew J., Zammarchi, Enrico, Donati, Maria Alice, Toniolo, Daniela

Volltext