Driscoll D - Search Results

1

Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.

Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel J, Bell CJ, Emanuel BS. Budarf ML, et al. Among authors: driscoll d. Genomics. 1996 Jul 15;35(2):275-88. doi: 10.1006/geno.1996.0358. Genomics. 1996. PMID: 8661140 Free article.

2

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.

3

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.

McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E. McElhinney DB, et al. Pediatrics. 2003 Dec;112(6 Pt 1):e472. doi: 10.1542/peds.112.6.e472. Pediatrics. 2003. PMID: 14654648

4

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. Among authors: driscoll d. 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.

5

Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.

Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, et al. Emanuel BS, et al. Among authors: driscoll d. Prog Clin Biol Res. 1993;384:207-24. Prog Clin Biol Res. 1993. PMID: 8115404 Review. No abstract available.

6

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Budarf ML, et al. Among authors: driscoll da. Nat Genet. 1995 Jul;10(3):269-78. doi: 10.1038/ng0795-269. Nat Genet. 1995. PMID: 7670464

7

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.

8

PCR assay for screening patients at risk for 22q11.2 deletion.

Driscoll DA, Emanuel BS, Mitchell LE, Budarf ML. Driscoll DA, et al. Genet Test. 1997;1(2):109-13. doi: 10.1089/gte.1997.1.109. Genet Test. 1997. PMID: 10464634

9

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS. Kurahashi H, et al. Among authors: driscoll da. Am J Hum Genet. 2000 Sep;67(3):763-8. doi: 10.1086/303054. Epub 2000 Jul 20. Am J Hum Genet. 2000. PMID: 10903930 Free PMC article.

10

Chromosome 22q11 deletion in patients with truncus arteriosus.

McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E. McElhinney DB, et al. Among authors: driscoll da. Pediatr Cardiol. 2003 Nov-Dec;24(6):569-73. doi: 10.1007/s00246-003-0441-3. Epub 2003 Sep 4. Pediatr Cardiol. 2003. PMID: 12947506

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