Zackai EH - Search Results

1

Melorheostosis: segmental osteopoikilosis or a separate entity?

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP. Kadhim M, et al. Among authors: zackai eh. J Pediatr Orthop. 2015 Mar;35(2):e13-7. doi: 10.1097/BPO.0000000000000384. J Pediatr Orthop. 2015. PMID: 25575356

2

Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome.

Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, Belasco J, Morrissette JD, Dormans JP. Anbari KK, et al. Among authors: zackai eh. Clin Orthop Relat Res. 2000 Sep;(378):213-23. doi: 10.1097/00003086-200009000-00032. Clin Orthop Relat Res. 2000. PMID: 10986997

3

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

4

Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.

Erol B, Tracy MR, Dormans JP, Zackai EH, Maisenbacher MK, O'Brien ML, Turnpenny PD, Kusumi K. Erol B, et al. Among authors: zackai eh. J Pediatr Orthop. 2004 Nov-Dec;24(6):674-82. J Pediatr Orthop. 2004. PMID: 15502569

5

Molecular analysis of congenital scoliosis: a candidate gene approach.

Maisenbacher MK, Han JS, O'brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K. Maisenbacher MK, et al. Among authors: zackai eh. Hum Genet. 2005 Apr;116(5):416-9. doi: 10.1007/s00439-005-1253-8. Epub 2005 Feb 17. Hum Genet. 2005. PMID: 15717203

6

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Among authors: zackai eh. Am J Med Genet A. 2009 Aug;149A(8):1842-5. doi: 10.1002/ajmg.a.32980. Am J Med Genet A. 2009. PMID: 19610101 Free PMC article. No abstract available.

7

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. Conlin LK, et al. Among authors: zackai eh. Hum Mol Genet. 2010 Apr 1;19(7):1263-75. doi: 10.1093/hmg/ddq003. Epub 2010 Jan 6. Hum Mol Genet. 2010. PMID: 20053666 Free PMC article.

8

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.

Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. Crowley MA, et al. Among authors: zackai eh. Am J Med Genet A. 2010 May;152A(5):1326-7. doi: 10.1002/ajmg.a.33375. Am J Med Genet A. 2010. PMID: 20425846 No abstract available.

9

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Conlin LK, et al. Among authors: zackai eh. Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169773

10

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. Izumi K, et al. Among authors: zackai eh. Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225330

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