Boyadjiev, S A; Chowdry, A B; Shapiro, R E et al. (2002) Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenet Genome Res 98:29-37
|
Rojas, K; Serrano de la Pena, L; Gallardo, T et al. (1999) Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. Genomics 62:177-83
|
Hastbacka, J; Kerrebrock, A; Mokkala, K et al. (1999) Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet 7:664-70
|
Bardien-Kruger, S; Greenberg, J; Tubb, B et al. (1999) Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. Eur J Hum Genet 7:332-8
|
Simmons, A D; Overhauser, J; Lovett, M (1997) Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. Genome Res 7:118-27
|
Touchman, J W; Bouffard, G G; Weintraub, L A et al. (1997) 2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries. Genome Res 7:281-92
|
Wise, C A; Clines, G A; Massa, H et al. (1997) Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res 7:10-6
|
Clines, G A; Ashley, J A; Shah, S et al. (1997) The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res 7:359-67
|
Stickens, D; Clines, G; Burbee, D et al. (1996) The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14:25-32
|
Guimera, J; Casas, C; Pucharcos, C et al. (1996) A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet 5:1305-10
|
Showing the most recent 10 out of 20 publications