Shaikh TH - Search Results

1

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: shaikh th. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.

2

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG. Gajecka M, et al. Am J Med Genet A. 2010 Dec;152A(12):3074-83. doi: 10.1002/ajmg.a.33733. Am J Med Genet A. 2010. PMID: 21108392 Free PMC article.

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 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.

5

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: shaikh th. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.

6

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.

7

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

8

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

9

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH. Ming JE, et al. Among authors: shaikh th. Hum Mutat. 2006 May;27(5):467-73. doi: 10.1002/humu.20322. Hum Mutat. 2006. PMID: 16619270

10

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: shaikh th. Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3. Hum Mol Genet. 2009. PMID: 19193630 Free PMC article.

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