Shaikh TH - Search Results

1

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Hu T, Kruszka P, Martinez AF, Ming JE, Shabason EK, Raam MS, Shaikh TH, Pineda-Alvarez DE, Muenke M. Hu T, et al. Among authors: shaikh th. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):175-186. doi: 10.1002/ajmg.c.31622. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182442 Free PMC article.

2

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

3

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Hannibal MC, et al. Among authors: shaikh th. Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671394 Free PMC article.

4

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH. Van Laarhoven PM, et al. Among authors: shaikh th. Hum Mol Genet. 2015 Aug 1;24(15):4443-53. doi: 10.1093/hmg/ddv180. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972376 Free PMC article.

5

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.

6

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.

7

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Mostovoy Y, et al. Among authors: shaikh th. Genetics. 2021 Feb 9;217(2):iyaa038. doi: 10.1093/genetics/iyaa038. Genetics. 2021. PMID: 33724415 Free PMC article.

8

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

9

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.

Shaikh TH. Shaikh TH. Genet Med. 2007 Sep;9(9):617-25. doi: 10.1097/gim.0b013e318148bb81. Genet Med. 2007. PMID: 17873650 Review.

10

Genome-wide copy number variations in a large cohort of bantu African children.

Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Yilmaz F, et al. Among authors: shaikh th. BMC Med Genomics. 2021 May 17;14(1):129. doi: 10.1186/s12920-021-00978-z. BMC Med Genomics. 2021. PMID: 34001112 Free PMC article.

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