Driscoll DA - Search Results

1

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.

Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA. Saitta SC, et al. Among authors: driscoll da. Am J Med Genet A. 2004 Jan 30;124A(3):313-7. doi: 10.1002/ajmg.a.20421. Am J Med Genet A. 2004. PMID: 14708107 Free PMC article.

2

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Am J Med Genet A. 2005 Apr 30;134(3):242-6. doi: 10.1002/ajmg.a.30069. Am J Med Genet A. 2005. PMID: 15754359 Free PMC article.

3

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Saitta SC, et al. Among authors: driscoll da. Hum Mol Genet. 2004 Feb 15;13(4):417-28. doi: 10.1093/hmg/ddh041. Epub 2003 Dec 17. Hum Mol Genet. 2004. PMID: 14681306 Free PMC article.

4

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.

Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J. Sundaram UT, et al. Among authors: driscoll da. Am J Med Genet A. 2007 Sep 1;143A(17):2016-8. doi: 10.1002/ajmg.a.31736. Am J Med Genet A. 2007. PMID: 17676598 Free PMC article.

5

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.

Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE. Goldmuntz E, et al. Among authors: driscoll da. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):125-9. doi: 10.1002/bdra.20501. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 18770859 Free PMC article.

6

Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.

Bingham PM, Zimmerman RA, McDonald-McGinn D, Driscoll D, Emanuel BS, Zackai E. Bingham PM, et al. Am J Med Genet. 1997 Sep 19;74(5):538-43. Am J Med Genet. 1997. PMID: 9342208

7

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425

8

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633

9

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Goldmuntz E, et al. J Med Genet. 1993 Oct;30(10):807-12. doi: 10.1136/jmg.30.10.807. J Med Genet. 1993. PMID: 7901419 Free PMC article.

10

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Driscoll DA, Budarf ML, Emanuel BS. Driscoll DA, et al. Am J Hum Genet. 1992 May;50(5):924-33. Am J Hum Genet. 1992. PMID: 1349199 Free PMC article.

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