Zackai EH - Search Results

1

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ. Balasubramanian M, et al. Among authors: zackai eh. J Med Genet. 2011 May;48(5):290-8. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22. J Med Genet. 2011. PMID: 21343628 Free article.

2

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH. Ramos FJ, et al. Among authors: zackai eh. Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614. Am J Med Genet. 1992. PMID: 1481848

3

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Donnenfeld AE, et al. Among authors: zackai eh. Am J Med Genet. 1989 Apr;32(4):461-7. doi: 10.1002/ajmg.1320320405. Am J Med Genet. 1989. PMID: 2773986

4

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

Münke M, Emanuel BS, Zackai EH. Münke M, et al. Among authors: zackai eh. Am J Med Genet. 1988 Aug;30(4):929-38. doi: 10.1002/ajmg.1320300409. Am J Med Genet. 1988. PMID: 3055987 Review.

5

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.

Spinner NB, Zackai E, Cheng SD, Knoll JH. Spinner NB, et al. Am J Med Genet. 1995 May 22;57(1):61-5. doi: 10.1002/ajmg.1320570114. Am J Med Genet. 1995. PMID: 7645601

6

Duplication 3q syndrome: molecular delineation of the critical region.

Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. Aqua MS, et al. Among authors: zackai eh. Am J Med Genet. 1995 Jan 2;55(1):33-7. doi: 10.1002/ajmg.1320550111. Am J Med Genet. 1995. PMID: 7702094

7

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

Spinner NB, Grace KR, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E. Spinner NB, et al. Am J Med Genet. 1995 Mar 13;56(1):22-4. doi: 10.1002/ajmg.1320560107. Am J Med Genet. 1995. PMID: 7747780

8

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Among authors: zackai eh. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

9

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

10

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.

Spinner NB, Biegel JA, Sovinsky L, McDonald-McGinn D, Rehberg K, Parmiter AH, Zackai EH. Spinner NB, et al. Among authors: zackai eh. Am J Med Genet. 1993 Apr 1;46(1):95-7. doi: 10.1002/ajmg.1320460116. Am J Med Genet. 1993. PMID: 8494037 Review.

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