Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome

Autor: Sutherland, H. F., Wadey, R., Mckie, J. M., Taylor, C., Atif, U., Johnstone, K. A., Halford, S., Kim, U. -J, Goodship, J., Antonio Baldini, Scambler, P. J.

Publikováno v: Scopus-Elsevier

Most cases of DiGeorge syndrome (DGS) and related abnormalities are associated with deletions within 22q11. Shortest region of deletion overlap (SRO) mapping previously identified a critical region (the DGCR) of 500 kb, which was presumed to contain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c0c211a37fdccaf38ac5c96388ca607
http://hdl.handle.net/11588/462664

Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome.

Autor: Taylor Clelland CL; Department of Physiology and Biophysics, Box 1218, Mount Sinai Medical Center, One Gustave L.Levy Place, New York, New York 10029, USA. clelland@inka.mssm.edu, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2000 Aug; Vol. 11 (8), pp. 675-81.

Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Autor: Sutherland HF; Molecular Medicine Unit, Institute of Child Health, London., Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J, Baldini A, Scambler PJ

Publikováno v: American journal of human genetics [Am J Hum Genet] 1996 Jul; Vol. 59 (1), pp. 23-31.