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PreviewIssue DateTitleAuthor(s)
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
1999Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3Cleton-Jansen, A.M.; Moerland, E.; Pronk, J.; Van Berkel, C.; Apostolou, S.; Crawford, J.; Savoia, A.; Auerbach, A.; Callen, D.; Cornelisse, C.
1999Isolation and characterisation of a cDNA encoding a Zona Pellucida Protein (ZPB) from the marsupial Trichosurus vulpecula (Brushtail Possum)Haines, B.; Rathjen, P.; Hope, R.; Whyatt, L.; Holland, M.; Breed, W.
1999Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientGecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.M.; Sutherland, G.; Callen, D.
1999Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardationGecz, J.; Barnett, S.; Liu, J.; Hollway, G.; Donnelly, A.; Eyre, H.; Eshkevari, H.; Baltazar, R.; Grunn, A.; Nagaraja, R.; Gilliam, C.; Peltonen, L.; Sutherland, G.; Baron, M.; Mulley, J.
1999The PISSLRE Gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancerCrawford, J.; Ianzano, L.; Savino, M.; Whitmore, S.; Cleton-Jansen, A.M.; Settasatian, C.; d'Apolito, M.; Seshadri, R.; Pronk, J.; Auerbach, A.; Verlander, P.; Mathew, C.; Tipping, A.; Doggett, N.; Zelante, L.; Callen, D.; Savoia, A.