McDermid H - Search Results

1

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Dawson AJ, et al. Among authors: mcdermid h. J Med Genet. 1996 Nov;33(11):952-6. doi: 10.1136/jmg.33.11.952. J Med Genet. 1996. PMID: 8950677 Free PMC article.

2

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.

3

Unusual dicentric chromosome 22 associated with a 22q13 deletion.

Babineau T, Wilson HL, Dawson AJ, Chodirker BN, Der Kaloustian VM, Demczuk S, McDermid HE. Babineau T, et al. Am J Med Genet A. 2006 Dec 15;140(24):2819-23. doi: 10.1002/ajmg.a.31500. Am J Med Genet A. 2006. PMID: 17103441 No abstract available.

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

The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.

Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M. Baud V, et al. Among authors: mcdermid he. Hum Mol Genet. 1994 Feb;3(2):335-9. doi: 10.1093/hmg/3.2.335. Hum Mol Genet. 1994. PMID: 8004105

6

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.

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

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Doheny KF, et al. Among authors: mcdermid he. J Med Genet. 1997 Aug;34(8):640-4. doi: 10.1136/jmg.34.8.640. J Med Genet. 1997. PMID: 9279755 Free PMC article.

9

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

10

22q13 deletion syndrome.

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Phelan MC, et al. Among authors: mcdermid h. Am J Med Genet. 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11391650

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