Shaffer LG - Search Results

1

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Paciorkowski AR, et al. Among authors: shaffer lg. Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694734 Free PMC article.

2

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG. Ballif BC, et al. Among authors: shaffer lg. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

3

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.

Ballif BC, Gajecka M, Shaffer LG. Ballif BC, et al. Among authors: shaffer lg. Chromosome Res. 2004;12(2):133-41. doi: 10.1023/b:chro.0000013165.88969.10. Chromosome Res. 2004. PMID: 15053483

4

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Eur J Hum Genet. 2005 Feb;13(2):139-49. doi: 10.1038/sj.ejhg.5201302. Eur J Hum Genet. 2005. PMID: 15483646

5

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.

Gajecka M, Glotzbach CD, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Chromosome Res. 2006;14(3):277-82. doi: 10.1007/s10577-006-1044-7. Epub 2006 Apr 20. Chromosome Res. 2006. PMID: 16628498

6

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.

Gajecka M, Pavlicek A, Glotzbach CD, Ballif BC, Jarmuz M, Jurka J, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Hum Genet. 2006 Nov;120(4):519-26. doi: 10.1007/s00439-006-0222-1. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847692

7

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

Gajecka M, Glotzbach CD, Jarmuz M, Ballif BC, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Eur J Hum Genet. 2006 Dec;14(12):1255-62. doi: 10.1038/sj.ejhg.5201710. Epub 2006 Aug 30. Eur J Hum Genet. 2006. PMID: 16941016

8

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. doi: 10.1002/ajmg.c.30154. Am J Med Genet C Semin Med Genet. 2007. PMID: 17918734 Review.

9

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Dobyns WB, et al. Among authors: shaffer lg. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. Am J Med Genet A. 2008. PMID: 18536050 Free PMC article.

10

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).

Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG. Gajecka M, et al. Among authors: shaffer lg. Genome Res. 2008 Nov;18(11):1733-42. doi: 10.1101/gr.077453.108. Epub 2008 Sep 2. Genome Res. 2008. PMID: 18765821 Free PMC article.

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