Zackai EH - Search Results

1

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP. Murray B, et al. Among authors: zackai eh. Am J Med Genet A. 2013 Feb;161A(2):371-6. doi: 10.1002/ajmg.a.35733. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307527

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. Among authors: zackai eh. 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

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: zackai eh. Am J Med Genet. 1999 May 7;84(1):56-60. Am J Med Genet. 1999. PMID: 10213047

4

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: zackai eh. Am J Med Genet. 1999 Jul 16;85(2):127-33. Am J Med Genet. 1999. PMID: 10406665

5

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching.

McElhinney DB, Clark BJ 3rd, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, Zackai EH, Goldmuntz E. McElhinney DB, et al. Among authors: zackai eh. J Am Coll Cardiol. 2001 Jun 15;37(8):2114-9. doi: 10.1016/s0735-1097(01)01286-4. J Am Coll Cardiol. 2001. PMID: 11419896 Free article.

6

Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.

McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E. McElhinney DB, et al. Among authors: zackai eh. Pediatrics. 2001 Dec;108(6):E104. doi: 10.1542/peds.108.6.e104. Pediatrics. 2001. PMID: 11731631

7

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: zackai eh. 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

8

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome.

McElhinney DB, Straka M, Goldmuntz E, Zackai EH. McElhinney DB, et al. Among authors: zackai eh. Am J Med Genet. 2002 Dec 1;113(3):238-41. doi: 10.1002/ajmg.10803. Am J Med Genet. 2002. PMID: 12439890

9

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

Deardorff MA, Maisenbacher M, Zackai EH. Deardorff MA, et al. Among authors: zackai eh. Am J Med Genet A. 2004 Nov 1;130A(4):393-4. doi: 10.1002/ajmg.a.30032. Am J Med Genet A. 2004. PMID: 15455365

10

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. Among authors: zackai eh. 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.

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