Babcock M - Search Results

1

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Yobb TM, et al. Among authors: babcock m. Am J Hum Genet. 2005 May;76(5):865-76. doi: 10.1086/429841. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800846 Free PMC article.

2

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. Spiteri E, et al. Among authors: babcock m. Hum Mol Genet. 2003 Aug 1;12(15):1823-37. doi: 10.1093/hmg/ddg203. Hum Mol Genet. 2003. PMID: 12874103

3

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Babcock M, et al. Hum Mol Genet. 2007 Nov 1;16(21):2560-71. doi: 10.1093/hmg/ddm197. Epub 2007 Aug 3. Hum Mol Genet. 2007. PMID: 17675367

4

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. Babcock M, et al. Genome Res. 2007 Apr;17(4):451-60. doi: 10.1101/gr.5651507. Epub 2007 Feb 6. Genome Res. 2007. PMID: 17284672 Free PMC article.

5

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG. Rosenfeld JA, et al. Among authors: babcock m. Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20951845

6

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.

Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, Shaffer LG, Jurka J, Morrow BE. Babcock M, et al. Genome Res. 2003 Dec;13(12):2519-32. doi: 10.1101/gr.1549503. Genome Res. 2003. PMID: 14656960 Free PMC article.

7

Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.

Samanich J, Montagna C, Morrow BE, Babcock M. Samanich J, et al. Among authors: babcock m. J Pediatr Genet. 2012 Mar;1(1):47-53. doi: 10.3233/PGE-2012-009. J Pediatr Genet. 2012. PMID: 27625801 Free PMC article.

8

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.

Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R. Funke BH, et al. Among authors: babcock m. Genet Test. 2007 Spring;11(1):91-100. doi: 10.1089/gte.2006.0507. Genet Test. 2007. PMID: 17394398

9

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature.

Petti M, Samanich J, Pan Q, Huang CK, Reinmund J, Farooqi S, Morrow B, Babcock M. Petti M, et al. Among authors: babcock m. Am J Med Genet A. 2011 Apr;155A(4):825-32. doi: 10.1002/ajmg.a.33869. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416589 Review.

10

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. Rosenfeld JA, et al. Among authors: babcock m. Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5. Neurogenetics. 2012. PMID: 22218741

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