Shaikh TH - Search Results

1

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A. Izumi K, et al. Among authors: shaikh th. Am J Med Genet A. 2013 Dec;161A(12):3137-43. doi: 10.1002/ajmg.a.36149. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038875

2

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. 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

3

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Among authors: shaikh th. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19100872 Free PMC article.

4

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: shaikh th. 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.

5

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. Haldeman-Englert CR, et al. Among authors: shaikh th. Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176. Am J Med Genet A. 2010. PMID: 20034085 Free PMC article.

6

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.

Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA. Jackson EM, et al. Among authors: shaikh th. Am J Med Genet A. 2007 Aug 1;143A(15):1767-70. doi: 10.1002/ajmg.a.31843. Am J Med Genet A. 2007. PMID: 17603804

7

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Shaikh TH, et al. Am J Hum Genet. 1999 Dec;65(6):1595-607. doi: 10.1086/302666. Am J Hum Genet. 1999. PMID: 10577913 Free PMC article.

8

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.

Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. Yu HC, et al. Among authors: shaikh th. Am J Med Genet A. 2014 Apr;164A(4):950-7. doi: 10.1002/ajmg.a.36379. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458743 Free PMC article.

9

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. Sheridan MB, et al. Among authors: shaikh th. Am J Hum Genet. 2010 Aug 13;87(2):209-18. doi: 10.1016/j.ajhg.2010.07.002. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673865 Free PMC article.

10

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Shaikh TH, et al. Hum Mol Genet. 2000 Mar 1;9(4):489-501. doi: 10.1093/hmg/9.4.489. Hum Mol Genet. 2000. PMID: 10699172

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