Driscoll DA - Search Results

1

Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.

Driscoll DA. Driscoll DA. Methods Mol Med. 2006;126:43-55. doi: 10.1385/1-59745-088-X:43. Methods Mol Med. 2006. PMID: 16930005

2

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.

3

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA. Driscoll DA. Curr Opin Pediatr. 1994 Dec;6(6):702-6. doi: 10.1097/00008480-199412000-00016. Curr Opin Pediatr. 1994. PMID: 7849818 Review.

4

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Driscoll DA, et al. J Med Genet. 1993 Oct;30(10):813-7. doi: 10.1136/jmg.30.10.813. J Med Genet. 1993. PMID: 8230155 Free PMC article.

5

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Li M, et al. Among authors: driscoll da. Am J Med Genet. 1996 Oct 16;65(2):101-3. doi: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8911598

6

Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.

Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML. Gong W, et al. Among authors: driscoll da. Hum Mol Genet. 1997 Feb;6(2):267-76. doi: 10.1093/hmg/6.2.267. Hum Mol Genet. 1997. PMID: 9063747

7

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.

8

Prenatal diagnosis of the 22q11.2 deletion syndrome.

Driscoll DA. Driscoll DA. Genet Med. 2001 Jan-Feb;3(1):14-8. doi: 10.1097/00125817-200101000-00004. Genet Med. 2001. PMID: 11339370 Free article. Review.

9

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.

10

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. Among authors: driscoll da. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.

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