McDermid HE - Search Results

1

McDermid HE, Morrow BE. McDermid HE, et al. Am J Hum Genet. 2002 May;70(5):1077-88. doi: 10.1086/340363. Epub 2002 Mar 29. Am J Hum Genet. 2002. PMID: 11925570 Free PMC article. Review.

2

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Yobb TM, et al. Among authors: mcdermid he. Am J Hum Genet. 2005 May;76(5):865-76. doi: 10.1086/429841. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800846 Free PMC article.

3

Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11.

Bridgland L, Footz TK, Kardel MD, Riazi MA, McDermid HE. Bridgland L, et al. Among authors: mcdermid he. Hum Genet. 2003 Jan;112(1):57-61. doi: 10.1007/s00439-002-0827-y. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12483300

4

Molecular characterization of the marker chromosome associated with cat eye syndrome.

Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE. Mears AJ, et al. Among authors: mcdermid he. Am J Hum Genet. 1994 Jul;55(1):134-42. Am J Hum Genet. 1994. PMID: 7912885 Free PMC article.

5

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.

McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. McTaggart KE, et al. Among authors: mcdermid he. Cytogenet Cell Genet. 1998;81(3-4):222-8. doi: 10.1159/000015035. Cytogenet Cell Genet. 1998. PMID: 9730608

6

Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR. Mears AJ, et al. Among authors: mcdermid he. Am J Hum Genet. 1995 Sep;57(3):667-73. Am J Hum Genet. 1995. PMID: 7668296 Free PMC article.

7

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. Nesslinger NJ, et al. Among authors: mcdermid he. Am J Hum Genet. 1994 Mar;54(3):464-72. Am J Hum Genet. 1994. PMID: 7906921 Free PMC article.

8

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE. Wong AC, et al. Among authors: mcdermid he. Am J Hum Genet. 1997 Jan;60(1):113-20. Am J Hum Genet. 1997. PMID: 8981954 Free PMC article.

9

The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6.

Footz TK, Birren B, Minoshima S, Asakawa S, Shimizu N, Riazi MA, McDermid HE. Footz TK, et al. Among authors: mcdermid he. Genomics. 1998 Aug 1;51(3):472-5. doi: 10.1006/geno.1998.5392. Genomics. 1998. PMID: 9721221

10

Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.

Frizzley JK, Stephan MJ, Lamb AN, Jonas PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE. Frizzley JK, et al. Among authors: mcdermid he. J Med Genet. 1999 Mar;36(3):237-41. J Med Genet. 1999. PMID: 10204853 Free PMC article.

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