Shaikh TH - Search Results

1

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: shaikh th. Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16. Am J Hum Genet. 2015. PMID: 25892112 Free PMC article.

2

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

3

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

Nimmakayalu MA, Gotter AL, Shaikh TH, Emanuel BS. Nimmakayalu MA, et al. Among authors: shaikh th. Hum Mol Genet. 2003 Nov 1;12(21):2817-25. doi: 10.1093/hmg/ddg301. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952865

4

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

Gotter AL, Shaikh TH, Budarf ML, Rhodes CH, Emanuel BS. Gotter AL, et al. Among authors: shaikh th. Hum Mol Genet. 2004 Jan 1;13(1):103-15. doi: 10.1093/hmg/ddh004. Epub 2003 Nov 12. Hum Mol Genet. 2004. PMID: 14613967 Free PMC article.

5

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.

6

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.

7

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Goldmuntz E, et al. Among authors: shaikh th. Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20. Congenit Heart Dis. 2011. PMID: 22010865 Free PMC article.

8

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. Kurahashi H, et al. Am J Hum Genet. 2003 Mar;72(3):733-8. doi: 10.1086/368062. Epub 2003 Jan 29. Am J Hum Genet. 2003. PMID: 12557125 Free PMC article.

9

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.

10

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS. Kurahashi H, et al. Among authors: shaikh th. Am J Hum Genet. 2000 Sep;67(3):763-8. doi: 10.1086/303054. Epub 2000 Jul 20. Am J Hum Genet. 2000. PMID: 10903930 Free PMC article.

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