Goldmuntz E - Search Results

1

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web.

McElhinney DB, Jacobs I, McDonald-McGinn DM, Zackai EH, Goldmuntz E. McElhinney DB, et al. Among authors: goldmuntz e. Int J Pediatr Otorhinolaryngol. 2002 Oct 21;66(1):23-27. doi: 10.1016/s0165-5876(02)00184-2. Int J Pediatr Otorhinolaryngol. 2002. PMID: 12363418

2

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.

3

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: goldmuntz e. Prog Clin Biol Res. 1993;384:207-24. Prog Clin Biol Res. 1993. PMID: 8115404 Review. No abstract available.

4

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ 3rd, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. McDonald-McGinn DM, et al. Among authors: goldmuntz e. Pediatrics. 1997 May;99(5):E9. doi: 10.1542/peds.99.5.e9. Pediatrics. 1997. PMID: 9113966

5

Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.

Goldmuntz E, Emanuel BS. Goldmuntz E, et al. Circ Res. 1997 Apr;80(4):437-43. doi: 10.1161/01.res.80.4.437. Circ Res. 1997. PMID: 9118473 Review.

6

Frequency of 22q11 deletions in patients with conotruncal defects.

Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Goldmuntz E, et al. J Am Coll Cardiol. 1998 Aug;32(2):492-8. doi: 10.1016/s0735-1097(98)00259-9. J Am Coll Cardiol. 1998. PMID: 9708481 Free article.

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. Among authors: goldmuntz e. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425

8

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. Krantz ID, et al. Among authors: goldmuntz e. Am J Med Genet. 1999 May 7;84(1):56-60. Am J Med Genet. 1999. PMID: 10213047

9

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ 3rd, Driscoll DA, Jawad A, Emanuel BS, McDonald-McGinn DM, Batshaw ML, Zackai EH. Gerdes M, et al. Among authors: goldmuntz e. Am J Med Genet. 1999 Jul 16;85(2):127-33. Am J Med Genet. 1999. PMID: 10406665

10

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. Among authors: goldmuntz e. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633

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