Goldmuntz E - Search Results

1

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium. Guo T, et al. Among authors: goldmuntz e. Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16. Hum Mutat. 2011. PMID: 21796729 Free PMC article.

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

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.

Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Goldmuntz E, Emanuel BS, Driscoll DA. Wilson TA, et al. Among authors: goldmuntz e. Am J Med Genet. 1993 Nov 15;47(7):1078-82. doi: 10.1002/ajmg.1320470729. Am J Med Genet. 1993. PMID: 8291527

5

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

6

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.

7

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.

8

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

9

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

10

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

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