Zackai EH - Search Results

1

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.

Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID. Katz OL, et al. Among authors: zackai eh. J Pediatr. 2022 Jul;246:251-265.e2. doi: 10.1016/j.jpeds.2022.03.023. Epub 2022 Mar 18. J Pediatr. 2022. PMID: 35314152 Review. No abstract available.

2

The role of cytologic NOR variants in the etiology of trisomy 21.

Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS. Spinner NB, et al. Among authors: zackai eh. Am J Hum Genet. 1989 May;44(5):631-8. Am J Hum Genet. 1989. PMID: 2523191 Free PMC article. Review.

3

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH. Bergoffen J, et al. Among authors: zackai eh. J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2. J Pediatr. 1993. PMID: 8463911

4

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

5

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Zand DJ, et al. Am J Med Genet A. 2003 Apr 30;118A(3):223-8. doi: 10.1002/ajmg.a.10026. Am J Med Genet A. 2003. PMID: 12673651

6

Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.

Clericuzio CL, Chen E, McNeil DE, O'Connor T, Zackai EH, Medne L, Tomlinson G, DeBaun M. Clericuzio CL, et al. Among authors: zackai eh. J Pediatr. 2003 Aug;143(2):270-2. doi: 10.1067/S0022-3476(03)00306-8. J Pediatr. 2003. PMID: 12970646

7

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.

Morrissette JJ, Laufer-Cahana A, Medne L, Russell KL, Venditti CP, Kline R, Zackai EH, Spinner NB. Morrissette JJ, et al. Among authors: zackai eh. Am J Med Genet A. 2003 Dec 15;123A(3):279-84. doi: 10.1002/ajmg.a.20293. Am J Med Genet A. 2003. PMID: 14608650

8

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: zackai eh. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279

9

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB. Morrissette JJ, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Aug 30;137(2):208-12. doi: 10.1002/ajmg.a.30845. Am J Med Genet A. 2005. PMID: 16082706

10

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.

DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DeBerardinis RJ, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Oct 1;138A(2):155-9. doi: 10.1002/ajmg.a.30913. Am J Med Genet A. 2005. PMID: 16114050

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